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Gene: P4ha1 MGI:97463

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide
Synonyms:
P4ha

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by P4ha1 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 P4ha1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Breath-Holding Spells
Pallor OMIM:607578
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Pallor, Syndactyly, Short stature OMIM:615631
Optic Atrophy 1
Pallor OMIM:165500
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Pallor OMIM:613561
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Hemoglobin D Disease
Pallor ORPHA:90039
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor ORPHA:49827
Retinitis Pigmentosa 51
Polydactyly, Pallor OMIM:613464
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Myopathic Ehlers-Danlos Syndrome
Congenital finger flexion contractures, Adducted thumb, Pallor, Tapered finger, Talipes equinovarus ORPHA:536516
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Short stature, Absent thumb, Short thumb, Intrauterine growth retardati... OMIM:609053
Evans Syndrome
Petechiae, Pallor ORPHA:1959
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor, Azoospermia OMIM:615234
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Dravet Syndrome
Pallor, Tibial torsion ORPHA:33069
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Pallor, Growth delay OMIM:600462
Primary Myelofibrosis
Petechiae, Purpura, Ecchymosis, Pallor ORPHA:824
Irida Syndrome
Pallor ORPHA:209981
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Cold Agglutinin Disease
Pallor ORPHA:56425
Myelofibrosis
Purpura, Pallor OMIM:254450
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Retinitis Pigmentosa 75
Pallor OMIM:617023
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor ORPHA:98870
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Intrauterine growth retardation, Pallor, Short stature OMIM:301310
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor, Azoospermia ORPHA:300298
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Myopathy, Mitochondrial, And Ataxia
Short stature, Pallor, Growth delay OMIM:617675
Senior-Loken Syndrome 8
Polydactyly, Pallor OMIM:616307
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Dominant Beta-Thalassemia
Delayed puberty, Skin ulcer, Genu valgum, Bowing of the long bones, Growth delay, Pallor ORPHA:231226
American Trypanosomiasis
Pallor ORPHA:3386
Tay-Sachs Disease
Pallor OMIM:272800
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Elliptocytosis 1
Pallor OMIM:611804
Hereditary Spherocytosis
Growth delay, Pallor, Skin ulcer ORPHA:822
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Beta-Thalassemia Major
Delayed puberty, Skin ulcer, Genu valgum, Bowing of the long bones, Growth delay, Pallor ORPHA:231214
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Letterer-Siwe Disease
Pallor OMIM:246400
Sepsis In Premature Infants
Petechiae, Purpura, Pallor ORPHA:90051
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Fanconi Anemia, Complementation Group C
Anemic pallor, Short stature, Complete duplication of thumb phalanx, Absent thumb, Short thumb, A... OMIM:227645
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Fumarase Deficiency
Mitochondrial swelling, Pallor OMIM:606812
Waldenström Macroglobulinemia
Purpura, Pallor ORPHA:33226
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Adenohypophysitis
Pallor ORPHA:95512
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor ORPHA:329971
Aregenerative Anemia
Pallor ORPHA:101096
Diamond-Blackfan Anemia 1
Hypoplasia of the radius, Triphalangeal thumb, Spina bifida occulta, Short stature, Partial dupli... OMIM:105650
Prolactinoma
Delayed puberty, Pallor ORPHA:2965
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Panhypophysitis
Pallor ORPHA:95513
Fanconi Anemia, Complementation Group E
Anemic pallor, Short stature, Complete duplication of thumb phalanx, Absent thumb, Short thumb, A... OMIM:600901
Incontinentia Pigmenti
Short stature, Pallor, Erythema OMIM:308300
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Fanconi Anemia, Complementation Group A
Anemic pallor, Short stature, Complete duplication of thumb phalanx, Absent thumb, Short thumb, A... OMIM:227650
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pallor OMIM:277400
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Esophageal Atresia
Growth delay, Pallor, Clinodactyly ORPHA:1199
Degcags Syndrome
Polydactyly, Genu valgum, Syndactyly, Short thumb, Preaxial hand polydactyly, Toe syndactyly, Pal... OMIM:619488
Fanconi Anemia, Complementation Group D2
Anemic pallor, Aplasia of the 1st metacarpal, Short stature, Complete duplication of thumb phalan... OMIM:227646
Diamond-Blackfan Anemia
Triphalangeal thumb, Short stature, Growth delay, Partial duplication of thumb phalanx, Absent th... ORPHA:124
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema OMIM:557000
Idiopathic Hypereosinophilic Syndrome
Swelling of proximal interphalangeal joints, Pallor, Clubbing ORPHA:3260
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Pallor, Bowing of the long bones, Growth delay ORPHA:667
Neuroblastoma
Anemic pallor ORPHA:635
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Pallor ORPHA:91347
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Von Hippel-Lindau Disease
Pallor ORPHA:892
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Goodpasture Syndrome
Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125

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 P4ha1

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 P4ha1.

No publications found that use IMPC mice or data for P4ha1.

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MGI Allele Allele Type Produced
P4ha1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
P4ha1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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