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Trpv5m1Btlr
Chemically induced Allele Detail
Summary
Symbol: Trpv5m1Btlr
Name: transient receptor potential cation channel, subfamily V, member 5; mutation 1, Bruce Beutler
MGI ID: MGI:5304494
Synonyms: gingame
Gene: Trpv5  Location: Chr6:41629107-41657703 bp, - strand  Genetic Position: Chr6, 19.83 cM
Alliance: Trpv5m1Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThe gingame phenotype was identified among ENU-mutagenized G3 mice in a screen for mutants with susceptibility to dextran sulfate sodium (DSS)-induced colitis. ENU-induced A to T transition at position 416037032 bp in the Genbank genomic region NC_000072.5 on Chr6:41602769-41630722 bp, - strand. The mutation corresponds to nucleotide 1031 in exon 8 of 15 total exons. The mutation results in a valine to glutamic acid substitution at amino acid 306. (J:192586)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 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 Trpv5 Mutation:  49 strains or lines available
References
Original:  J:192586 Tomisato W, et al., Mutagenetix entry for gingame. MGI Direct Data Submission. 2013;(Feb 20)
All:  1 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