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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
Dry skin, Facial erythema, Pallor 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
Short stature, Growth delay, Pallor, Syndactyly 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
Pallor, Polydactyly 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
Pallor, Talipes equinovarus, Adducted thumb, Congenital finger flexion contractures, Tapered finger ORPHA:536516
Fanconi Anemia, Complementation Group I
Absent thumb, Short thumb, Short 1st metacarpal, Intrauterine growth retardation, Pallor, Hypopla... OMIM:609053
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Growth delay, Pallor 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
Purpura, Petechiae, Pallor, Ecchymosis ORPHA:824
Irida Syndrome
Pallor ORPHA:209981
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor 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
Short stature, Intrauterine growth retardation, Pallor OMIM:301310
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Growth delay, Pallor ORPHA:300298
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Pallor OMIM:617675
Senior-Loken Syndrome 8
Pallor, Polydactyly OMIM:616307
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Dominant Beta-Thalassemia
Skin ulcer, Genu valgum, Pallor, Bowing of the long bones, Delayed puberty, Growth delay 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, Skin ulcer, Pallor ORPHA:822
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Beta-Thalassemia Major
Skin ulcer, Genu valgum, Pallor, Bowing of the long bones, Delayed puberty, Growth delay ORPHA:231214
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Sepsis In Premature Infants
Purpura, Petechiae, Pallor ORPHA:90051
Letterer-Siwe Disease
Pallor OMIM:246400
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
Absent thumb, Short thumb, Intrauterine growth retardation, Anemic pallor, Absent radius, Short s... OMIM:227645
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Fumarase Deficiency
Pallor, Mitochondrial swelling 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
Anemic pallor, Growth delay ORPHA:329971
Aregenerative Anemia
Pallor ORPHA:101096
Diamond-Blackfan Anemia 1
Absent thumb, Short thumb, Intrauterine growth retardation, Pallor, Partial duplication of thumb ... OMIM:105650
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Prolactinoma
Delayed puberty, Pallor ORPHA:2965
Panhypophysitis
Pallor ORPHA:95513
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Anemic pallor, Absent radius, Short stature, Complete duplication of t... OMIM:600901
Incontinentia Pigmenti
Short stature, Erythema, Pallor OMIM:308300
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Anemic pallor, Absent radius, Short stature, Complete duplication of t... OMIM:227650
Pituitary Apoplexy
Pallor ORPHA:95613
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
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, Clinodactyly, Pallor ORPHA:1199
Degcags Syndrome
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Intrauterine growth retardation, Genu val... OMIM:619488
Fanconi Anemia, Complementation Group D2
Absent thumb, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb phalanx, Anemi... OMIM:227646
Diamond-Blackfan Anemia
Absent thumb, Short thumb, Pallor, Partial duplication of thumb phalanx, Triphalangeal thumb, Sho... ORPHA:124
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Idiopathic Hypereosinophilic Syndrome
Pallor, Clubbing, Swelling of proximal interphalangeal joints ORPHA:3260
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Pallor, Growth delay, Abnormal metaphysis morphology 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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