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Gene: Pcdh7 MGI:1860487

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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:
protocadherin 7
Synonyms:
BH-protocadherin

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 Pcdh7 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 Pcdh7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis OMIM:607634
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab... OMIM:600785
Eiken Syndrome
Abnormal trabecular bone morphology, Thin bony cortex, Abnormal bone ossification, Delayed epiphy... ORPHA:79106
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Osteopetrosis, Splenomegaly OMIM:615085
Osteopetrosis, Autosomal Recessive 4
Anemia, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, Osteopetrosis, Splenom... OMIM:611490
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Generalized osteosclerosis OMIM:166600
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Splenomegaly OMIM:612840
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Hepatosplenomegaly, Decreased osteoclast count, Diaphyseal sclerosis, Extra... OMIM:259710
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Thin bony cortex, Sparse bone trabeculae, Delayed epiphyseal ossification OMIM:600081
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Osteomalacia, Sparse bone trabeculae, Rickets, Hypophosphatemic rickets, Delaye... OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Sparse bone trabeculae, Rickets, Hypophosphatemic rickets, Delayed epiphyseal o... OMIM:241530
Osteopetrosis, Autosomal Recessive 3
Anemia, Osteopetrosis, Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Cr... OMIM:259730
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Anemia, Osteopetrosis, Splenomegaly OMIM:612301
Dent Disease 1
Thin bony cortex, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossification OMIM:300009
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Thin bony cortex, Sparse bone trabeculae, Delayed epiphyseal ossification OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Rickets, Thin bony cortex, Sparse bone trabeculae, Delayed epiphyseal ossification OMIM:277440
Autosomal Recessive Hypophosphatemic Rickets
Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the... ORPHA:289176
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossification ORPHA:289157
Rothmund-Thomson Syndrome
Anemia, Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Neutropenia, Leukemia, ... ORPHA:2909
Rothmund-Thomson Syndrome Type 1
Anemia, Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Neutropenia, Leukemia ORPHA:221008
Dent Disease
Thin bony cortex, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossification ORPHA:1652
Rothmund-Thomson Syndrome Type 2
Anemia, Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Neutropenia, Leukemia ORPHA:221016

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 Pcdh7

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 Pcdh7.

No publications found that use IMPC mice or data for Pcdh7.

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MGI Allele Allele Type Produced
Pcdh7tm413376(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pcdh7em1(IMPC)Wtsi Exon Deletion Mice

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