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Pcdh15av-Jfb
Spontaneous Allele Detail
Summary
Symbol: Pcdh15av-Jfb
Name: protocadherin 15; Ames waltzer James F Battey
MGI ID: MGI:2448714
Synonyms: Pcdh15av-4J
Gene: Pcdh15  Location: Chr10:72935174-74485569 bp, + strand  Genetic Position: Chr10, 37.43 cM
Alliance: Pcdh15av-Jfb page
Mutation
origin
Strain of Origin:  B6.129X1-Grprtm1Jfb/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Insertion
 
Mutation detailsThe mutation was identified as an insertion of cytosine at nucleotide position 2099, which results in a frameshift and a premature stop codon. (J:81272)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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: 0 strains available      Cell Lines: 0 lines available
Carrying any Pcdh15 Mutation:  135 strains or lines available
References
Original:  J:81272 Gagnon LH, et al., A new allele of protocadherin 15 (Pcdh15) named Ames waltzer 4 Jackson. Mouse Mutant Resources Web Site, The Jackson Laboratory, Bar Harbor, Maine. MGI Direct Data Submission. 2003;
All:  4 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
11/12/2024
MGI 6.24
The Jackson Laboratory