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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

Order Alleles

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
Optic Atrophy 1
Pallor OMIM:165500
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema 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, Syndactyly, Short stature, Pallor OMIM:615631
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
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
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
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Retinitis Pigmentosa 51
Polydactyly, Pallor OMIM:613464
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Myopathic Ehlers-Danlos Syndrome
Tapered finger, Pallor, Talipes equinovarus, Congenital finger flexion contractures, Adducted thumb ORPHA:536516
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Azoospermia, Pallor OMIM:615234
Fanconi Anemia, Complementation Group I
Short stature, Absent thumb, Short thumb, Hypoplasia of the radius, Pallor, Intrauterine growth r... OMIM:609053
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Dravet Syndrome
Pallor, Tibial torsion ORPHA:33069
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Myelofibrosis
Pallor, Purpura OMIM:254450
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Growth delay, Pallor, Delayed puberty OMIM:600462
Irida Syndrome
Pallor ORPHA:209981
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Cold Agglutinin Disease
Pallor ORPHA:56425
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Retinitis Pigmentosa 75
Pallor OMIM:617023
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor ORPHA:98870
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Azoospermia, Pallor ORPHA:300298
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Pallor OMIM:617675
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Senior-Loken Syndrome 8
Polydactyly, Pallor OMIM:616307
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Elliptocytosis 1
Pallor OMIM:611804
Tay-Sachs Disease
Pallor OMIM:272800
Dominant Beta-Thalassemia
Bowing of the long bones, Skin ulcer, Genu valgum, Growth delay, Pallor, Delayed puberty ORPHA:231226
American Trypanosomiasis
Pallor ORPHA:3386
Hereditary Spherocytosis
Growth delay, Pallor, Skin ulcer ORPHA:822
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Beta-Thalassemia Major
Bowing of the long bones, Skin ulcer, Genu valgum, Growth delay, Pallor, Delayed puberty ORPHA:231214
Childhood Absence Epilepsy
Pallor ORPHA:64280
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Letterer-Siwe Disease
Pallor OMIM:246400
Fanconi Anemia, Complementation Group C
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Intrauter... OMIM:227645
Sepsis In Premature Infants
Pallor, Petechiae, Purpura ORPHA:90051
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Non-Functioning Pituitary Adenoma
Macroorchidism, Macroorchidism, postpubertal, Pallor ORPHA:91349
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Fanconi Anemia, Complementation Group E
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Complete ... OMIM:600901
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Fumarase Deficiency
Mitochondrial swelling, Pallor OMIM:606812
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Fanconi Anemia, Complementation Group A
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Complete ... OMIM:227650
Prolactinoma
Pallor, Delayed puberty ORPHA:2965
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor ORPHA:329971
Diamond-Blackfan Anemia 1
Short stature, Absent thumb, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of the... OMIM:105650
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Adenohypophysitis
Pallor ORPHA:95512
Aregenerative Anemia
Pallor ORPHA:101096
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Incontinentia Pigmenti
Erythema, Short stature, Pallor OMIM:308300
Panhypophysitis
Pallor ORPHA:95513
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Fanconi Anemia, Complementation Group D2
Anemic pallor, Short stature, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb... OMIM:227646
Degcags Syndrome
Syndactyly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Cryptorchidism, Genu valgum, ... OMIM:619488
Esophageal Atresia
Growth delay, Clinodactyly, Pallor ORPHA:1199
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Diamond-Blackfan Anemia
Short stature, Absent thumb, Short thumb, Partial duplication of thumb phalanx, Growth delay, Pal... ORPHA:124
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Idiopathic Hypereosinophilic Syndrome
Swelling of proximal interphalangeal joints, Clubbing, Pallor ORPHA:3260
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Abnormal metaphysis morphology, Pallor, Bowing of the long bones ORPHA:667
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Tsh-Secreting Pituitary Adenoma
Pallor, Delayed puberty 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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