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Gene: Timp4 MGI:109125

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Gene Summary

Name:
tissue inhibitor of metalloproteinase 4
Synonyms:
TIMP-4

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
small heart Timp4em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Timp4em1(IMPC)Mbp HOM Early adult 0.00
increased startle reflex Timp4em1(IMPC)Mbp HOM   Early adult 5.61×10-05
increased freezing behavior Timp4em1(IMPC)Mbp HOM Early adult 2.39×10-07
small spleen Timp4em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Timp4em1(IMPC)Mbp HOM Early adult 0.00
absent optic nerve Timp4em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Timp4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Timp4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric... OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... OMIM:265400
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... ORPHA:3092
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Microphthalmia, Optic nerve hypoplasia OMIM:206900
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris ORPHA:140905
Optic Atrophy 11
Optic atrophy, Cherry red spot of the macula, Stereotypical body rocking, Facial diplegia, Spleno... OMIM:617302
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Pulmonic stenosis, Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the optic nerve, Op... ORPHA:137634
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Cognitive Impairment With Or Without Cerebellar Ataxia
Severe temper tantrums, Attention deficit hyperactivity disorder, Optic nerve hypoplasia OMIM:614306
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Resting tremor, Tremor, Irritability, Aggressive behavior, Hypera... ORPHA:3077
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Microphthalmia, Isolated 8
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... OMIM:615113
Hepatic Lipase Deficiency
Angina pectoris OMIM:614025
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Left ventricula... OMIM:301500
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Congestive heart failure OMIM:176670
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Atrial septal defect, Abnormal retinal morphology, Hypoplastic spleen, Dysp... ORPHA:89844
Chromosome 19P13.13 Deletion Syndrome
Self-injurious behavior, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Abnormal heart valve morphology, Transient ischemic attac... ORPHA:464343
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Optic nerve hypoplasia OMIM:620502
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defe... OMIM:620609
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Fish-Eye Disease
Angina pectoris ORPHA:79292
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic disc hypoplasia, Attention deficit hyperactivity disorder, Repetitive compul... ORPHA:401777
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Hyperlysinemia, Type I
Anemia, Hyperactivity, Optic nerve hypoplasia OMIM:238700
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia ORPHA:65288
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Optic nerve hypoplasia ORPHA:228384
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Inappropriate laughter, Obsessive-compulsive trait, Self-mutilation, Low frustration tolerance, H... ORPHA:363686
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cherry red spot of the macula, Exaggerate... ORPHA:309246
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia ORPHA:496790
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Mitral valve prolapse, Angina pectoris, Cerebral hemorrhage, Retinal... OMIM:177850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy, Exaggerated startle response, ... OMIM:609541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Microphthalmia OMIM:615181
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Exaggerated startle response, Irritability OMIM:617864
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropat... ORPHA:320406
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Mitral valve prolapse, Angina pectoris, ... ORPHA:758
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Chorioretinal coloboma, Optic nerve hypoplasia ORPHA:163937
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Situs inversus totalis, Microphthalmia OMIM:614833
Nabais Sa-De Vries Syndrome, Type 1
Self-injurious behavior, Prolonged neonatal jaundice, Optic nerve hypoplasia OMIM:618828
Cardiofaciocutaneous Syndrome 4
Ventricular septal hypertrophy, Pulmonic stenosis, Abnormal aortic valve morphology, Optic nerve ... OMIM:615280
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Patent foramen ovale, Ventricular septal defect, Atrial septal defec... OMIM:609053
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Bacterial endo... ORPHA:97214
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cardiomyopathy, Retinal detachment, Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Dysphagia, Optic nerve hypoplasia ORPHA:572013
Cerebral Visual Impairment
Optic atrophy, Attention deficit hyperactivity disorder, Retinopathy of prematurity, Optic disc p... ORPHA:447788
Squalene Synthase Deficiency
Bicuspid aortic valve, Optic nerve hypoplasia, Irritability OMIM:618156
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly, Mitral valve prolapse, Cherry red spot of the m... ORPHA:309155
White-Sutton Syndrome
Self-injurious behavior, Overfriendliness, Irritability, Patent foramen ovale, Aggressive behavio... OMIM:616364
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... OMIM:616881
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Atrial septal defect, Optic nerve hypoplasia OMIM:615879
Apolipoprotein A-I Deficiency
Angina pectoris ORPHA:425
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Intention tremor, Optic nerve hypoplasia OMIM:618381
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect, Optic nerve hypoplasia OMIM:615583
Primary Triglyceride Deposit Cardiomyovasculopathy
Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Palpitations, Angina... ORPHA:565612
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar... ORPHA:93672
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Ventricular septal defect, Double outlet right ventricle, Thrombocytopenia, Hepatomeg... OMIM:301056
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Tongue thrusti... OMIM:608643
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Restless legs, Absent brainstem au... ORPHA:101085
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Multilobulated spleen, Bilateral microphthalmos, Tetralogy of Fallot, An... OMIM:601186
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620157
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Ventricular septal defect, Thrombocyto... ORPHA:261250
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia OMIM:618736
Phace Association
Optic atrophy, Ventricular septal defect, Increased retinal vascularity, Horner syndrome, Microph... OMIM:606519
Spastic Paraplegia 54, Autosomal Recessive
Dysphagia, Optic nerve hypoplasia OMIM:615033
D-Glyceric Aciduria
Opisthotonus, Tongue thrusting, Optic nerve hypoplasia OMIM:220120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Dilated cardiomyopathy, Retinal detachment, Atrial septal defect, Transposition of... OMIM:253800
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Sandhoff Disease
Cherry red spot of the macula, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Exagger... OMIM:268800
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Microcephaly 20, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Gracile Bone Dysplasia
Asplenia, Aniridia, Hypoplastic spleen, Microphthalmia OMIM:602361
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Emotional lability, Torticollis, Abnormal autonomic nervous system physiology, Dystonia, Motor st... ORPHA:300570
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Fg Syndrome Type 1
Mitral valve prolapse, Attention deficit hyperactivity disorder, Atrial septal defect, Compulsive... ORPHA:93932
Hurler Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Endocardial fibroelastosis, Angina pectoris, Hyp... ORPHA:93473
Stiff-Person Syndrome
Anemia, Opisthotonus, Depression, Exaggerated startle response OMIM:184850
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Polydipsia, Optic nerve hypoplasia ORPHA:3157
Rhizomelic Chondrodysplasia Punctata, Type 2
Tetralogy of Fallot, Optic nerve hypoplasia OMIM:222765
Asparagine Synthetase Deficiency
Tremor, Optic nerve hypoplasia, Exaggerated startle response, Irritability OMIM:615574
Trichothiodystrophy 5, Nonphotosensitive
Retinal dystrophy, Optic nerve hypoplasia OMIM:300953
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Tetralogy of Fallot, Atrioventricular canal defect, Exocrine pancreatic insuffi... ORPHA:508498
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Retinal dystrophy, Microphthalmia OMIM:610125
Chromosome 2P16.1-P15 Deletion Syndrome
Attention deficit hyperactivity disorder, Optic nerve hypoplasia OMIM:612513
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Attention deficit hyperactivity disorder, Facial palsy, Dysphagia, Optic nerve hyp... ORPHA:261349
Multiple Mitochondrial Dysfunctions Syndrome 7
Partial atrioventricular canal defect, Agitation, Irritability, Hyperactivity, Thrombocytopenia, ... OMIM:620423
19P13.13 Microdeletion Syndrome
Optic atrophy, Attention deficit hyperactivity disorder, Optic nerve hypoplasia ORPHA:357001
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Atrial septal defect, Patent foramen ovale, Exaggerated startle response OMIM:620327
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Abnormal erythrocyte enzyme concentration or activity... ORPHA:100924
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response OMIM:620114
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Attention deficit hyperactivity disorder, Dysphagia, Intention tremor, Optic nerve hypoplasia OMIM:620029
Brachytelephalangic Chondrodysplasia Punctata
Atrial septal defect, Ventricular septal defect, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto... ORPHA:900
Cerebrotendinous Xanthomatosis
Angina pectoris, Myocardial infarction OMIM:213700
Tay-Sachs Disease
Optic atrophy, Depression, Cherry red spot of the macula, Laryngeal dystonia, Tremor, Dysphagia, ... ORPHA:845
Aniridia 1
Chorioretinal hypopigmentation, Retinal vascular tortuosity, Hypoplasia of the iris, Aniridia, Hy... OMIM:106210
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Pearson Syndrome
Bone marrow hypocellularity, Pigmentary retinopathy, Cardiomyopathy, Abnormal heart morphology, E... ORPHA:699
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia, Secundum atrial septal defect, Pancreatic hypoplasia, Anemia, Pancreatic ... OMIM:609069
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... OMIM:301043
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Retinal vascular tortuosity, Microphthalmia OMIM:243605
Gaisböck Syndrome
Elevated diastolic blood pressure, Angina pectoris, Hypertension, Myocardial infarction, Hypovolemia ORPHA:90041
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Agitation, Exaggerated startle response OMIM:618056
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ... ORPHA:221139
Rabin-Pappas Syndrome
Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620155
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Aortic valve calcification,... ORPHA:740
Hydranencephaly
Dilatation of the ventricular cavity, Opisthotonus, Chorioretinal atrophy, Optic nerve hypoplasia ORPHA:2177
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Emotional lability, Hair-pulling, Ventricular septal ... OMIM:620330
Phace Syndrome
Retinal vascular malformation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cardiac s... ORPHA:42775
Dysbetalipoproteinemia
Angina pectoris ORPHA:412
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Angina pectoris, Intracranial hemorrhage ORPHA:109
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Optic nerve hypoplasia, Retinal coloboma OMIM:300749
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Dysphagia, Exaggerated startle response OMIM:617301
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypertrophic cardiomyopathy, Patent foramen ovale, Ventricular septal defect, Atrial septal defec... OMIM:617506
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia, Retinal dysplasia, O... OMIM:614643
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hyperactivity, Exaggerated startle response OMIM:617281
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal optic nerve morphology, Abnormal heart morphology, Bruxism, Ventricular septal defect, B... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal optic nerve morphology, Abnormal heart morphology, Bruxism, Ventricular septal defect, B... ORPHA:352665
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Retinal coloboma, Abnormal heart morphology, Atrioventricular canal def... ORPHA:508488
Mirage Syndrome
Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen OMIM:617053
Homozygous Familial Hypercholesterolemia
Supravalvular aortic stenosis, Mitral regurgitation, Hypertension, Angina pectoris, Myocardial st... ORPHA:391665
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Bilateral microphthalmos, Attenuation of retinal blood vessels, Optic di... ORPHA:468631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal atrophy, Retinal detachment, Microphthalmia, Retinal dysplasia, Optic nerv... OMIM:236670
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Cherry red spot of the macula ORPHA:79255
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Optic disc coloboma, Abnormal heart valve morphology, Atrial septal defect... ORPHA:536471
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Marshall-Smith Syndrome
Dysplastic aortic valve, Ventricular septal defect, Atrial septal defect, Optic nerve hypoplasia OMIM:602535
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Impaired oropharyngeal swallow response, Exaggerated startle response ORPHA:521426
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Optic nerve hypoplasia ORPHA:45358
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Dysphagia, Exaggerated startle response OMIM:617527
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Aortopulmonary window, Ventricular septal defect, Optic nerve hypoplasia OMIM:620025
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Head-banging, Secundum atrial septal defect, Attention deficit hyperactivity disorder, Dysphagia,... OMIM:620455
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Exaggerated startle response OMIM:620451
Proboscis Lateralis
Optic disc coloboma, Chorioretinal coloboma, Anophthalmia, Ventricular septal defect, Microphthal... ORPHA:141099
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Leukocytosis, Hepatic steatosis, Retinal dystrophy, Optic nerve hypoplasia OMIM:619321
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Optic nerve hypoplasia ORPHA:457284
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Aortic valve stenosis, Abnormal fear-induced behavior, Abnormal heart mo... ORPHA:353281
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Stereotypical hand wr... ORPHA:438213
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Abnormal heart morphology, Absent gallbladder, Atrial septal defect, Dysphagia, Op... ORPHA:500150
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Optic nerve hypoplasia ORPHA:495875
Baller-Gerold Syndrome
Abnormal heart morphology, Optic atrophy, Anomalous splenoportal venous system, Optic nerve hypop... OMIM:218600
Rhombencephalosynapsis
Aganglionic megacolon, Septo-optic dysplasia ORPHA:59315
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Prolonged neonatal jaundice, Optic nerve hypoplasia ORPHA:226307
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Exaggerated startle response, Irritability OMIM:618367
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia ORPHA:95496
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Aortic valve stenosis, Abnormal fear-induced behavior, Abnormal heart mo... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Aortic valve stenosis, Abnormal fear-induced behavior, Abnormal heart mo... ORPHA:353277
Chilton-Okur-Chung Neurodevelopmental Syndrome
Self-injurious behavior, Patent foramen ovale, Aggressive behavior, Attention deficit hyperactivi... OMIM:619841
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:95494
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Attention deficit hyperactivity disorder, Dysphagia, Atrial septal def... OMIM:619522
Pmm2-Cdg
Hypertrophic cardiomyopathy, Angina pectoris, Pericardial effusion, Intracranial hemorrhage, Peri... ORPHA:79318

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 Timp4

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 Timp4.

No publications found that use IMPC mice or data for Timp4.

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
Timp4tm197186(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Timp4em1(IMPC)Mbp Exon Deletion Mice, Tissue

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