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Gene: P3h4 MGI:1913430

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

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 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
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Facial palsy ORPHA:3416
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Clavicular sclerosis, Abnorm... ORPHA:2790
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Fac... ORPHA:3152
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal ... ORPHA:970
Osteogenesis Imperfecta, Type Viii
Osteopenia, Type 1 collagen overmodification, Decreased calvarial ossification, Decreased skull o... OMIM:610915
Osteochondrosis Of The Metatarsal Bone
Thickened cortex of bones, Sclerosis of foot bone ORPHA:564003
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Caffey Disease
Calvarial hyperostosis, Subperiosteal bone formation, Cortical irregularity, Periosteal thickenin... OMIM:114000
Familial Expansile Osteolysis
Osteolysis, Thin bony cortex OMIM:174810
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Cranio-Osteoarthropathy
Abnormal cortical bone morphology, Eczema ORPHA:1525
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Abnormal cortical bone morphology, Camptodactyly of finger,... ORPHA:2635
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Proteus Syndrome
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Pyle Disease
Thin bony cortex, Reduced bone mineral density OMIM:265900
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Thin bony cortex, Abnormal ... ORPHA:79106
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology ORPHA:166277
Ck Syndrome
Abnormal cortical bone morphology OMIM:300831
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Abnormal cortical bone morphology ORPHA:1486
Gorham-Stout Disease
Osteopenia, Torticollis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis in... ORPHA:73
Grant Syndrome
Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Osteogenesis Imperfecta, Type Xxii
Thin bony cortex, Reduced bone mineral density OMIM:619795
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:600081
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic ... OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic rickets, Thin ... OMIM:241530
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Pachydermoperiostosis
Acne, Seborrheic dermatitis, Osteoporosis, Osteolysis, Abnormal cortical bone morphology, Eczemat... ORPHA:2796
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:264700
Dent Disease 1
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:300009
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:277440
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Melnick-Needles Syndrome
Craniofacial hyperostosis, Abnormal cortical bone morphology, Osteolytic defects of the phalanges... ORPHA:2484
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Generalized osteoporosis OMIM:617952
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex ORPHA:289157
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... OMIM:259600
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... ORPHA:249
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Skin rash, Reduced bone mineral dens... ORPHA:2909
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Camptodactyly of finger, Flexion contracture, Osteopor... ORPHA:3206
Dent Disease
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex ORPHA:1652
Oculodentodigital Dysplasia
Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger ORPHA:2710
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Decreased muscle mass, Osteoporosis, Thin bony cortex OMIM:309583
Gm1-Gangliosidosis, Type Ii
Thin bony cortex OMIM:230600
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Facial palsy, Cranial hyperostosis, Osteopetrosis, Facial hyperos... ORPHA:2658
Osteogenesis Imperfecta, Type X
Osteopenia, Decreased calvarial ossification, Thin bony cortex OMIM:613848
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology ORPHA:2769
Frank-Ter Haar Syndrome
Osteopenia, Acne, Osteoporosis, Camptodactyly, Cortical irregularity OMIM:249420
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Calcinosis ORPHA:221008
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
Spondyloocular Syndrome
Osteopenia, Thin bony cortex OMIM:605822
Weill-Marchesani Syndrome 2
Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex OMIM:608328
Osteogenesis Imperfecta
Osteopenia, Flexion contracture, Osteoporosis, Decreased skull ossification, Abnormal cortical bo... ORPHA:666
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Thin bony cortex, Reduced bone mineral density OMIM:613658
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Thin bony cortex OMIM:619727
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.

Order Mouse and ES Cells

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

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