Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
prolyl 3-hydroxylase family member 4 (non-enzymatic)
Synonyms:
1110036O03Rik,  Leprel4

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 P3h4 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 P3h4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Facial palsy, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Sclerosteosis
Craniofacial hyperostosis, Facial palsy, Abnormal cortical bone morphology, Increased bone minera... ORPHA:3152
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Osteolysis, Abnormal cortical bone morphology, Reduced bone mineral density,... ORPHA:970
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Osteogenesis Imperfecta, Type Viii
Osteopenia, Type 1 collagen overmodification, Decreased skull ossification OMIM:610915
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones OMIM:114000
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Thickened cortex of bones ORPHA:564003
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones, Corti... ORPHA:1310
Familial Expansile Osteolysis
Osteolysis, Thin bony cortex OMIM:174810
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Cranio-Osteoarthropathy
Eczema, Abnormal cortical bone morphology ORPHA:1525
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Camptodactyly of finger, Abnormal cortical bone morphology,... ORPHA:2635
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Generalized bone demineralization, Rickets, Rickets of the lower limbs, Thin bony cortex, Delayed... OMIM:600785
Eiken Syndrome
Abnormal trabecular bone morphology, Abnormal bone ossification, Thin bony cortex, Delayed epiphy... ORPHA:79106
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology ORPHA:166277
Ck Syndrome
Abnormal cortical bone morphology OMIM:300831
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Skeletal muscle atrophy ORPHA:1486
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Osteolysis invo... ORPHA:73
Proteus Syndrome
Facial hyperostosis, Calvarial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Grant Syndrome
Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Sparse bone trabeculae, Thin bony cortex, Delayed epiphyseal ossification OMIM:600081
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossificatio... OMIM:300554
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone... OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Sparse bone trabeculae, Thin bony cortex, Delayed epiphyseal ossification OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Rickets, Sparse bone trabeculae, Thin bony cortex, Delayed epiphyseal ossification OMIM:277440
Dent Disease 1
Rickets, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trabeculae OMIM:300009
Pachydermoperiostosis
Osteoporosis, Seborrheic dermatitis, Osteolysis, Eczematoid dermatitis, Abnormal cortical bone mo... ORPHA:2796
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Melnick-Needles Syndrome
Craniofacial hyperostosis, Osteolytic defects of the phalanges of the hand, Abnormal cortical bon... ORPHA:2484
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trabeculae ORPHA:289157
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Thin bony cortex OMIM:617952
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Increased bone m... ORPHA:289176
Fibrous Dysplasia Of Bone
Osteolysis, Patchy reduction of bone mineral density, Rickets, Fibrous dysplasia of the bones, Os... ORPHA:249
Rothmund-Thomson Syndrome
Skin rash, Abnormal trabecular bone morphology, Reduced bone mineral density, Calcinosis, Malar r... ORPHA:2909
Stüve-Wiedemann Syndrome
Osteoporosis, Camptodactyly of finger, Flexion contracture of finger, Flexion contracture, Abnorm... ORPHA:3206
Dent Disease
Rickets, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trabeculae ORPHA:1652
Oculodentodigital Dysplasia
Hyperostosis, Cranial hyperostosis, Camptodactyly of finger, Abnormal cortical bone morphology ORPHA:2710
Frank-Ter Haar Syndrome
Osteoporosis, Camptodactyly, Cortical irregularity, Osteopenia, Acne OMIM:249420
Lenz-Majewski Hyperostotic Dwarfism
Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral density, Cranial hyperos... ORPHA:2658
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology ORPHA:2769
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Calcinosis ORPHA:221008
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Thin bony cortex OMIM:613658
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Calcinosis ORPHA:221016
Weill-Marchesani Syndrome 1
Thin bony cortex OMIM:277600
Faciocardiomelic Syndrome
Osteopenia, Thin bony cortex OMIM:612731
Weill-Marchesani Syndrome 2
Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex OMIM:608328
Osteogenesis Imperfecta
Osteoporosis, Flexion contracture, Abnormal cortical bone morphology, Decreased skull ossificatio... ORPHA:666
Aspartylglucosaminuria
Macroglossia, Abnormal cortical bone morphology ORPHA:93

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 P3h4

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 P3h4.

No publications found that use IMPC mice or data for P3h4.

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MGI Allele Allele Type Produced
P3h4tm213161(L1L2_Bact_P) Targeting vectors
P3h4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
P3h4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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