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Abcg5trac
Spontaneous Allele Detail
Summary
Symbol: Abcg5trac
Name: ATP binding cassette subfamily G member 5; thrombocytopenia and cardiomyopathy
MGI ID: MGI:2156990
Synonyms: cardiomyopathy, cmp, tac
Gene: Abcg5  Location: Chr17:84965662-84990439 bp, - strand  Genetic Position: Chr17, 55.02 cM
Alliance: Abcg5trac page
Mutation
origin
Strain of Origin:  A/J
Mutation
description
Allele Type:    Spontaneous (Null/knockout)
Mutation:    Single point mutation
 
Mutation detailsSequencing of the cDNA revealed a G-to-A mutation in exon 10 of the gene, which alters a tryptophan codon 462 (UGG) to a premature stop codon (UAG) (p.W462*). The premature stop codon is predicted to result the expression of a mutant protein that lacks the last 4 transmembrane domains. (J:157223)
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 structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Abcg5 Mutation:  31 strains or lines available
References
Original:  J:157223 Chase TH, et al., The mouse mutation 'thrombocytopenia and cardiomyopathy' (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia. Blood. 2010 Feb 11;115(6):1267-76
All:  2 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
01/24/2023
MGI 6.22
The Jackson Laboratory