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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
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Eiken Syndrome
Delayed epiphyseal ossification, Thin bony cortex, Abnormal bone ossification, Abnormal trabecula... ORPHA:79106
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Osteopetrosis, Autosomal Recessive 8
Anemia, Osteopetrosis, Splenomegaly, Thrombocytopenia OMIM:615085
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... OMIM:611490
Osteopetrosis, Autosomal Recessive 9
Anemia, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Osteopetrosis, Autosomal Dominant 2
Generalized osteosclerosis, Osteopetrosis OMIM:166600
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia OMIM:612840
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia, Osteopetros... OMIM:259710
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Thin bony cortex, Rickets, Sparse bone trabeculae OMIM:600081
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Thin ... OMIM:241530
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Osteopetrosis, Anemia, Di... OMIM:259730
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Anemia, Osteopetrosis, Splenomegaly OMIM:612301
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex OMIM:300009
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Thin bony cortex, Rickets, Sparse bone trabeculae OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Thin bony cortex, Rickets, Sparse bone trabeculae OMIM:277440
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Osteomalacia, Leukocytosis, Splenom... ORPHA:289157
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Anemia, Neutropenia, Leukemia, ... ORPHA:2909
Dent Disease
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex ORPHA:1652
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Anemia, Neutropenia, Leukemia ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, 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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