Abcg5^trac
Spontaneous Allele Detail

Summary

• Symbol: Abcg5^trac
• 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: Abcg5^trac page

Mutation origin

• Strain of Origin: A/J

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: Sequencing 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

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: 2 strains available Cell Lines: 0 lines available
• Carrying any Abcg5 Mutation: 48 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)