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Gene: Plod3 MGI:1347008

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Gene Summary

Name:
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
Synonyms:
lysyl hydroxylase 3,  LH3

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Plod3tm1.1(KOMP)Wtsi HET   Early adult 7.19×10-05
abnormal pericardium morphology Plod3tm1.1(KOMP)Wtsi HOM E9.5 0.00
preweaning lethality, complete penetrance Plod3tm1.1(KOMP)Wtsi HOM   Early adult 0.00
embryonic growth retardation Plod3tm1.1(KOMP)Wtsi HOM E9.5 0.00
abnormal embryo size Plod3tm1.1(KOMP)Wtsi HOM E9.5 0.00
abnormal urinary bladder morphology Plod3tm1.1(KOMP)Wtsi HET Early adult 0.00
embryonic lethality prior to tooth bud stage Plod3tm1.1(KOMP)Wtsi HOM   E12.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

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OPT E9.5

Embryo reconstruction

8 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Morphology Embryo E9.5

Images

6 Images

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Human diseases caused by Plod3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Plod3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Bruising susceptibility, Intrauterine growth retardation, Dilatation of the cerebral artery, Arte... OMIM:612394

The table below shows human diseases predicted to be associated to Plod3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Aneurysm, Intracranial Berry, 12
Subarachnoid hemorrhage, Internal carotid artery dissection, Arterial fibromuscular dysplasia, Fu... OMIM:618734
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle, Vasculitis in the skin ORPHA:90000
Pemphigoid Gestationis
Intrauterine growth retardation, Skin vesicle ORPHA:63275
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Familial Cervical Artery Dissection
Subarachnoid hemorrhage, Stroke, Arterial fibromuscular dysplasia, Carotid artery tortuosity, Hyp... ORPHA:36382
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Afibrinogenemia, Congenital
Death in childhood, Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemor... OMIM:202400
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Milia, Hyperkeratotic papule, Localized skin lesion, Skin erosion, Erythematous papule, Skin vesi... ORPHA:79410
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Cerebral Cavernous Malformations 2
Telangiectasia, Stroke, Cerebral hemorrhage, Cerebral cavernous malformation OMIM:603284
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Dowling-Degos Disease
Palmar pits, Hyperkeratotic papule, Hypopigmented macule, Hypermelanotic macule, Hyperpigmented p... ORPHA:79145
Pruritic Urticarial Papules And Plaques Of Pregnancy
Palmoplantar erythema, Facial erythema, Striae distensae, Erythematous papule, Skin vesicle, Urti... ORPHA:64745
Darier Disease
Acrokeratosis, Plantar pits, Hypermelanotic macule, Macule, Skin vesicle ORPHA:218
Wells Syndrome
Vasculitis, Skin vesicle ORPHA:901
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Cardiomyopathy, Dilated, 2G
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... OMIM:619897
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Congestive heart failure, Intrauterine growth retardation, Neonatal death OMIM:301021
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... OMIM:616648
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Death in infancy, Bifid uvula, Hydrocephalus OMIM:258320
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Urinary bladder sphincter dysfunction, Abnormal auditory evoked... ORPHA:320401
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Glanzmann Thrombasthenia 1
Gingival bleeding, Bruising susceptibility, Subdural hemorrhage, Intracranial hemorrhage, Excessi... OMIM:273800
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Bruising susceptibility, Persistent bleeding after trauma, Intracranial hemorr... OMIM:613225
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Aplasia/Hypoplasia of the skin, Papule, Dermal atrophy, Skin vesicle ORPHA:257
Congenital Factor V Deficiency
Gingival bleeding, Prolonged bleeding after dental extraction, Hematochezia, Bruising susceptibil... ORPHA:326
Reversible Cerebral Vasoconstriction Syndrome
Subarachnoid hemorrhage, Cerebral hemorrhage, Subdural hemorrhage, Ischemic stroke, Vasospasm, Tr... ORPHA:284388
Pemphigus Foliaceus
Erythema, Skin erosion, Scaling skin, Serpiginous cutaneous lesion, Annular cutaneous lesion, Ski... ORPHA:79481
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Hypermelanotic macule, Arrhythmia, Intracranial... ORPHA:624
Dermatitis Herpetiformis
Erythema, Skin vesicle, Macule ORPHA:1656
Hennekam-Beemer Syndrome
Erythema, Hypotension, Arrhythmia, Short stature, Macule, Skin vesicle, Telangiectasia of the ski... ORPHA:2135
Pyoderma Gangrenosum
Atrophic scars, Papule, Skin vesicle, Skin ulcer ORPHA:48104
Familial Cerebral Saccular Aneurysm
Subarachnoid hemorrhage, Abnormal circle of Willis morphology, Aortic root aneurysm, Hypertension... ORPHA:231160
Immune Thrombocytopenia
Gingival bleeding, Bruising susceptibility, Cerebral hemorrhage, Purpura, Gastrointestinal hemorr... ORPHA:3002
Familial Benign Chronic Pemphigus
Erythema, Skin erosion, Skin vesicle ORPHA:2841
Snakebite Envenomation
Stroke, Gingival bleeding, Erythema, Localized skin lesion, Hypotension, Cardiogenic shock, Intra... ORPHA:449285
Familial Afibrinogenemia
Miscarriage, Gingival bleeding, Cerebral hemorrhage, Abnormal bleeding, Epistaxis ORPHA:98880
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Congenital Factor Xiii Deficiency
Gingival bleeding, Prolonged bleeding after dental extraction, Bruising susceptibility, Cerebral ... ORPHA:331
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Prolonged bleeding after dental extraction, Post-partum hemorrhage, I... ORPHA:325
Fetal And Neonatal Alloimmune Thrombocytopenia
Subarachnoid hemorrhage, Intracranial hemorrhage, Ecchymosis, Cephalohematoma, Purpura, Spontaneo... ORPHA:853
Acquired Purpura Fulminans
Prolonged prothrombin time, Intracranial hemorrhage, Macule, Pyoderma gangrenosum, Macular purpur... ORPHA:49566
Moderate Hemophilia A
Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemorrhage, Subdural hemo... ORPHA:169805
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Porphyria Variegata
Milia, Localized skin lesion, Skin erosion, Hypertension, Skin vesicle, Tachycardia ORPHA:79473
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay OMIM:614483
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin vesicle ORPHA:158681
Factor Vii Deficiency
Prolonged bleeding after dental extraction, Bruising susceptibility, Intracranial hemorrhage, Joi... OMIM:227500
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Lichen Planus Pemphigoides
Skin vesicle ORPHA:254478
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Dural Sinus Malformation
Subarachnoid hemorrhage, Stroke, Cerebral hemorrhage, Subdural hemorrhage, Hydrocephalus, Cerebel... ORPHA:97339
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Severe Hemophilia A
Epidural hemorrhage, Bruising susceptibility, Subdural hemorrhage, Persistent bleeding after trau... ORPHA:169802
Neurocutaneous Melanocytosis
Numerous congenital melanocytic nevi, Meningocele, Intracranial hemorrhage, Death in infancy, Mel... ORPHA:2481
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gingival bleeding, Bruising susceptibility, Post-partum hemorrhage, I... ORPHA:327
Sweet Syndrome
Small vessel vasculitis, Skin nodule, Pyoderma gangrenosum, Erythematous papule, Skin vesicle, Di... ORPHA:3243
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Miscarriage, Prolonged bleeding after dental extraction, Epidural hemorrhage, Persistent bleeding... ORPHA:465
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Nevus, Hydrocephalus ORPHA:398189
Autosomal Dominant Hyper-Ige Syndrome
Vascular dilatation, Papule, Skin vesicle, Skin ulcer ORPHA:2314
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Cerebral hemorrhage, Ischemic stroke, Intracranial hemorrhage, Hypertension, Transient is... ORPHA:136
Iga Pemphigus
Annular cutaneous lesion, Skin plaque, Skin erosion, Skin vesicle ORPHA:555905
Hemophilia A
Intracranial hemorrhage, Joint hemorrhage, Intraventricular hemorrhage, Spontaneous hematomas, Ga... ORPHA:98878
Sneddon Syndrome
Stroke, Cerebral hemorrhage, Ischemic stroke, Hypertension, Atrophic scars OMIM:182410
Anencephaly 2
Median cleft palate, Cleft maxillary alveolar ridge, Median cleft lip, Anencephaly OMIM:619452
Menkes Disease
Death in childhood, Intracranial hemorrhage, Intrauterine growth retardation, Short stature, Cuti... OMIM:309400
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Cerebral hemorrhage, Ischemic stroke, Hypertension, Short stature, Moyamoya phen... ORPHA:280679
Dyskeratosis Congenita
Hypopigmented skin patches, Hypermelanotic macule, Intrauterine growth retardation, Short stature... ORPHA:1775
Sneddon Syndrome
Intracranial hemorrhage, Arterial stenosis, Hypertension ORPHA:820
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gingival bleeding, Prolonged bleeding after dental extraction, Bruisi... ORPHA:35909
Factor X Deficiency
Prolonged prothrombin time, Gingival bleeding, Intracranial hemorrhage, Joint hemorrhage, Prolong... OMIM:227600
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Bruising susceptibility, Persistent bleeding after trauma, Intracranial hemorr... ORPHA:79
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy OMIM:617519
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Prolonged prothrombin time, Gingival bleeding, Antepartum hemorrhage, Pr... ORPHA:328
Fetal Gaucher Disease
Stillbirth, Intracranial hemorrhage, Death in infancy, Neonatal death ORPHA:85212
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Joint hemorrhage, Cephalohem... ORPHA:98879
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle OMIM:613102
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Cleft palate, Anencephaly, Ectopic anus, Non-midline cleft lip ORPHA:2476
Hereditary Hemorrhagic Telangiectasia
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Pulmonary arterial hypertension, Abnor... ORPHA:774
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Primary Angiitis Of The Central Nervous System
Stroke, Cerebral vasculitis, Intracranial hemorrhage, Transient ischemic attack ORPHA:140989
Methanol Poisoning
Inflammatory arteriopathy, Cerebral hemorrhage, Intracranial hemorrhage, Hypertension, Permanent ... ORPHA:31825
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
Cerebral Amyloid Angiopathy, App-Related
Subarachnoid hemorrhage, Stroke, Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cereb... OMIM:605714
Telangiectasia, Hereditary Hemorrhagic, Type 1
Lip telangiectasia, Venous varicosities of celiac and mesenteric vessels, Nasal mucosa telangiect... OMIM:187300
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Mitral regurgitation, Pulmonic stenosis, Hypotension, Bruising suscep... ORPHA:99147
Parkes Weber Syndrome
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, High-output congestive heart failure, ... ORPHA:90307
Telangiectasia, Hereditary Hemorrhagic, Type 4
Subarachnoid hemorrhage, Pulmonary arteriovenous malformation, Lip telangiectasia, Conjunctival t... OMIM:610655
Wyburn-Mason Syndrome
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology,... ORPHA:53719
Diprosopus
Cleft palate, Non-midline cleft lip, Anencephaly ORPHA:1681
Van Der Woude Syndrome 1
Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit OMIM:119300
Abcd Syndrome
Abnormal auditory evoked potentials, Total intestinal aganglionosis, Aganglionic megacolon, Heari... OMIM:600501
Telangiectasia, Hereditary Hemorrhagic, Type 2
Lip telangiectasia, Facial telangiectasia, Nasal mucosa telangiectasia, Transient ischemic attack... OMIM:600376
Hypophosphatasia, Infantile
Intracranial hemorrhage, Skin dimple over apex of long bone angulation, Death in infancy, Stillbi... OMIM:241500
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Hematochezia, Erythematous plaque, Diffuse alveolar hemorrhage, Cerebral hemo... ORPHA:464321
Non-Functioning Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... ORPHA:94080
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Facial erythema ORPHA:284227
Acquired Aneurysmal Subarachnoid Hemorrhage
Prolonged QTc interval, Cerebral hemorrhage, Hydrocephalus, Syncope, Ischemic stroke, Hypertensio... ORPHA:90065
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Leukocyte Adhesion Deficiency Type Ii
Umbilical hernia, Intrauterine growth retardation, Short stature, Skin vesicle ORPHA:99843
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Right aortic arch, Hypertension, Premature coronary artery atherosclerosis, ... OMIM:300845
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Bruising susceptibility, Cerebral hemorrhage, Joint hemorrhage, Ecchy... OMIM:277450
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Stroke, Vasculitis, Arteriosclerosis, Arterial fibromuscular dysplasia, ... ORPHA:494424
Dengue Fever
Gingival bleeding, Bruising susceptibility, Hypotension, Cerebral hemorrhage, Gastrointestinal he... ORPHA:99828
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Chikungunya
Raynaud phenomenon, Gingival bleeding, Erythema, Macule, Skin vesicle, Petechiae, Abnormal bleedi... ORPHA:324625
Joubert Syndrome 15
Exencephaly OMIM:614464
Pheochromocytoma--Islet Cell Tumor Syndrome
Cerebral hemorrhage, Cafe-au-lait spot, Congestive heart failure, Positive regitine blocking test... OMIM:171420
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Pallor, Bruising susceptibility ORPHA:3226
Pseudoxanthoma Elasticum, Forme Fruste
Arteriosclerosis, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Medial calc... OMIM:177850
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... OMIM:601596
Cleft Lip/Palate
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... ORPHA:199306
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Growth delay OMIM:614424
Schisis Association
Encephalocele, Anal atresia, Unilateral cleft lip, Spina bifida, Anencephaly, Cleft palate, Trach... ORPHA:63862
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, Transient i... ORPHA:91387
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Sacral dimple, Subdural hemorrhage OMIM:618291
Erythrocytosis, Familial, 2
Stroke, Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Varicose veins OMIM:263400
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Van Der Woude Syndrome 2
Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip OMIM:606713
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
Familial Hyperaldosteronism Type I
Epistaxis, Hypertension, Intracranial hemorrhage ORPHA:403
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Aortic aneurysm, Intracranial hemorrhage, Short stature, Telangiectas... ORPHA:109
Erythrocytosis, Familial, 1
Myocardial infarction, Hypertension, Cerebral hemorrhage OMIM:133100
Autoerythrocyte Sensitization Syndrome
Bruising susceptibility, Intracranial hemorrhage, Joint hemorrhage, Ecchymosis, Gastrointestinal ... ORPHA:324636
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in childhood, Prolonged prothrombin time, Death in adolescence, Intrauterine growth retarda... OMIM:619055
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft palate, Hypodontia, Lip pit, Cleft upper lip, Lower lip... ORPHA:888
Familial Hyperaldosteronism Type Ii
Epistaxis, Hypertension, Intracranial hemorrhage ORPHA:404
Mirage Syndrome
Hydrocephalus, Intracranial hemorrhage, Intrauterine growth retardation, Short stature, Petechiae... OMIM:617053
Aspergillosis
Stroke, Intracranial hemorrhage, Localized skin lesion ORPHA:1163
Abeta Amyloidosis, Dutch Type
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100006
Acys Amyloidosis
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100008
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Death in infancy, Subdural hemorrhage OMIM:615368
Familial Hyperaldosteronism Type Iii
Epistaxis, Hypertension, Intracranial hemorrhage, Prolonged QT interval ORPHA:251274
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal cochlea morphology, Prelingual sensorineural hearin... ORPHA:52368
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Propionic Acidemia
Cardiomyopathy, Short stature, Cerebellar hemorrhage OMIM:606054
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Pheochromocytoma
Cerebral hemorrhage, Renal artery stenosis, Cafe-au-lait spot, Congestive heart failure, Positive... OMIM:171300
Menkes Disease
Venous insufficiency, Umbilical hernia, Dry skin, Intracranial hemorrhage, Abnormal carotid arter... ORPHA:565
Wiskott-Aldrich Syndrome
Vasculitis, Gingival bleeding, Recurrent intrapulmonary hemorrhage, Hematochezia, Bruising suscep... ORPHA:906
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Intracranial hemorrhage, Hypertension, Second degree atrioventri... ORPHA:369929
Stormorken Syndrome
Subarachnoid hemorrhage, Bruising susceptibility, Short stature, Abnormal bleeding, Epistaxis, St... OMIM:185070
Cerebral Visual Impairment
Ischemic stroke, Intracranial hemorrhage, Hydrocephalus ORPHA:447788
Pseudo-Torch Syndrome 2
Bradycardia, Petechiae, Patent ductus arteriosus, Cerebral hemorrhage OMIM:617397
Tarp Syndrome
Tetralogy of Fallot, Subdural hemorrhage, Intrauterine growth retardation, Neonatal death OMIM:311900
Pseudo-Torch Syndrome 3
Hypertension, Death in infancy, Cerebral hemorrhage OMIM:618886
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Palpitations, Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:231625
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Cerebral vasculitis, Growth delay OMIM:243700
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... ORPHA:276621
Meckel Syndrome, Type 5
Cleft palate, Occipital encephalocele, Cleft upper lip, Anencephaly OMIM:611561
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopath... ORPHA:99901
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis, Oral mucosal blisters, Neonatal death OMIM:619817
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage, Short stature, Sacral dimple OMIM:618480
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic atherosclerotic lesion, Mitral regurgitation, Aortic root aneurysm, Intracranial hemorrhag... ORPHA:363618
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Hydrocephalus, Cleft palate, Cleft soft palate ORPHA:2736
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Bruising susceptibility, Abnormal lymphatic vessel morphology, Ecchymosis, S... ORPHA:464329
Hemorrhagic Fever-Renal Syndrome
Hypotension, Palpitations, Intracranial hemorrhage, Hypertension, Capillary leak, Internal hemorr... ORPHA:340
Chronic Graft Versus Host Disease
Erythema, Skin vesicle, Skin ulcer, Intermittent generalized erythematous papular rash ORPHA:99921
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... ORPHA:29072
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Bruising susceptibility, Subdural hemorrhage, Aortic aneurysm... ORPHA:536545
Cocaine Intoxication
Subarachnoid hemorrhage, Prolonged QRS complex, Diffuse alveolar hemorrhage, Hypotension, Tachyca... ORPHA:90068
Crimean-Congo Hemorrhagic Fever
Myocarditis, Gingival bleeding, Bundle branch block, Bradycardia, Epistaxis, Pulmonary arterial h... ORPHA:99827
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
Idiopathic Hypereosinophilic Syndrome
Raynaud phenomenon, Intracranial hemorrhage, Pulmonary embolism, Skin nodule, Transient ischemic ... ORPHA:3260
Adult Krabbe Disease
EEG abnormality, Urinary incontinence, Prolonged brainstem auditory evoked potentials ORPHA:206448
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stroke, Pulmonary arterial hypertension, Subdural hemorrhage, Hydrocephalus, Pulmonary embolism, ... ORPHA:79282
Riddle Syndrome
Erythema, Scaling skin, Short stature, Telangiectasia, Intraventricular hemorrhage, Conjunctival ... ORPHA:420741
Hutchinson-Gilford Progeria Syndrome
Stroke, Intracranial hemorrhage, Transient ischemic attack, Angina pectoris, Delayed menarche, My... ORPHA:740
Classic Homocystinuria
Arteriovenous malformation, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Gastrointe... ORPHA:394
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Intrauterine growth retardation, Growth delay ORPHA:79284
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Adult-Onset Autosomal Dominant Leukodystrophy
Urinary retention, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, U... ORPHA:99027
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly, Long philtrum ORPHA:2211
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Arrhythmia, Antenatal intracerebral hemorrhage, Death in infancy, Dilated cardiomyopathy OMIM:608836
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Intracranial hemorrhage, Short stature, Interrupted aortic arch, Patent ductus art... ORPHA:163979
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Urinary incontinence, Decreased nerve conduction velocity, O... ORPHA:101085
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Short stature, Intracranial hemorrhage, Hypertension ORPHA:90795
Hydranencephaly
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Intrauterine gro... ORPHA:2177
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Sacral dimple, Hydrocephalus OMIM:613603
Arachnoid Cyst
Subarachnoid hemorrhage, Holoprosencephaly, Hydrocephalus, Encephalocele ORPHA:2356
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Short stature OMIM:616430
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... ORPHA:206436
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Intrauterine growth retardation, Short stature, Subdural hemorrhage OMIM:619714
Glycogen Storage Disease Ii
Subarachnoid hemorrhage, Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia,... OMIM:232300
Cockayne Syndrome Type 1
Proteinuria, Absent brainstem auditory responses, Renal insufficiency, Hearing impairment, Abnorm... ORPHA:90321
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
Loeys-Dietz Syndrome 3
Arterial tortuosity, Striae distensae, Tortuous cerebral arteries, Atrial fibrillation, Subarachn... OMIM:613795
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Striae distensae ORPHA:199244
Osteogenesis Imperfecta
Aortic root aneurysm, Bruising susceptibility, Aortic aneurysm, Cerebral hemorrhage, Rhizomelia, ... ORPHA:666
Cockayne Syndrome Type 3
Stroke, Vascular calcification, Mild postnatal growth retardation, Aortic root aneurysm, Subdural... ORPHA:90324
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Hellp Syndrome
Prolonged prothrombin time, Internal hemorrhage, Hypotension, Cerebral hemorrhage ORPHA:244242
Trisomy 10P
Low-set ears, Low voltage EEG, EEG with focal spikes, Posteriorly rotated ears, Multiple renal cy... ORPHA:171929
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Short-segment aganglionic megacolon, Absent brainstem audit... OMIM:609136
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Koolen-De Vries Syndrome Due To A Point Mutation
Pulmonic stenosis, Spina bifida, Aortic aneurysm, Hydrocephalus, Cardiomyopathy, Sacral dimple, C... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pulmonic stenosis, Spina bifida, Aortic aneurysm, Hydrocephalus, Cardiomyopathy, Sacral dimple, C... ORPHA:363958
Dpagt1-Cdg
Intracranial hemorrhage, Skin dimple, Prolonged QT interval, Stroke-like episode ORPHA:86309
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Short stature OMIM:616507
Superficial Siderosis
Subarachnoid hemorrhage, Arteriovenous malformation, Persistent bleeding after trauma, Internal h... ORPHA:247245
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses ORPHA:79330
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Optic di... ORPHA:909
Cockayne Syndrome B
Proteinuria, Micropenis, Abnormal pinna morphology, Renal insufficiency, Decreased nerve conducti... OMIM:133540
Cockayne Syndrome A
Proteinuria, Micropenis, Abnormal pinna morphology, Renal insufficiency, Decreased nerve conducti... OMIM:216400
Acute Liver Failure
Prolonged prothrombin time, Hypotension, Bruising susceptibility, Intracranial hemorrhage, Gastro... ORPHA:90062
Viss Syndrome
Pulmonary arterial hypertension, Epidural hemorrhage, Aortic root aneurysm, Left aortic arch with... OMIM:619472
Meningioma
Syncope, Cerebral hemorrhage, Hydrocephalus ORPHA:2495
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Hydrocephalus, Ischemic stroke, Retinal arteriolar tortuosity, Dilation of V... OMIM:175780
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Branchial fistula, Intrauterine growth retardation, Short stature, Growt... OMIM:613406
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Preauricular skin tag, Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Acute Transverse Myelitis
Subarachnoid hemorrhage, Hypertension, Orthostatic hypotension ORPHA:139417
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Pmm2-Cdg
Angina pectoris, Intracranial hemorrhage, Pericarditis, Hypertrophic cardiomyopathy ORPHA:79318
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Bruising susceptibility, Intrauterine growth retardation, Dilatation of the cerebral artery, Arte... OMIM:612394

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Plod3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Plod3.

No publications found that use IMPC mice or data for Plod3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Plod3tm1.1(KOMP)Wtsi Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Plod3tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Plod3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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