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Pcdh15av-3J
Spontaneous Allele Detail
Summary
Symbol: Pcdh15av-3J
Name: protocadherin 15; Ames waltzer 3 Jackson
MGI ID: MGI:1856394
Synonyms: av3J, Pcdh15av-3J
Gene: Pcdh15  Location: Chr10:72935174-74485569 bp, + strand  Genetic Position: Chr10, 37.43 cM
Alliance: Pcdh15av-3J page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Insertion
 
Mutation detailsAn insertion of a single A nucleotide after position 4521 in the coding region results in a frameshift and a premature stop codon. Any encoded protein is predicted to lack a cytoplasmic domain. (J:66738)
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 Mice Carrying this Mutation: 1 assay results
In Structures Affected by this Mutation: 5 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
These homozygotes, like Pcdh15av-J homozygotes, can swim, though with difficulty. They tend to circle while afloat (J:28688).
References
Original:  J:28688 Cook S, et al., Re-mutation to Ames waltzer. Mouse Genome. 1993;91:554
All:  34 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
12/10/2024
MGI 6.24
The Jackson Laboratory