About   Help   FAQ
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
Loading...
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:  135 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory