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Pcdh15av-J
Spontaneous Allele Detail
Summary
Symbol: Pcdh15av-J
Name: protocadherin 15; Ames waltzer Jackson
MGI ID: MGI:1855958
Synonyms: avJ
Gene: Pcdh15  Location: Chr10:72935174-74485569 bp, + strand  Genetic Position: Chr10, 37.43 cM
Alliance: Pcdh15av-J page
Mutation
origin
Strain of Origin:  C57BLKS/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsThe mutation is a 834 bp deletion that is predicted to delete 278 amino acids from the extracellular domain of the encoded protein. (J:66738)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pcdh15 Mutation:  132 strains or lines available
Notes
Several remutations to Pcdh15 have occurred in stocks at The Jackson Laboratory. All show the characteristic head-tossing, circling, and deafness (J:28688).
References
Original:  J:28688 Cook S, et al., Re-mutation to Ames waltzer. Mouse Genome. 1993;91:554
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory