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| Nomenclature |
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Symbol:
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Abcg5trac
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Name:
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ATP-binding cassette, sub-family G (WHITE), member 5;
thrombocytopenia and cardiomyopathy
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MGI ID: |
MGI:2156990 |
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Synonyms: |
cardiomyopathy, cmp, tac |
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Gene:
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Abcg5
Location:
Chr17:84658234-84683011 bp, - strand
Genetic Position: Chr17,
55.02 cM
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: Sequencing of the cDNA revealed a G-to-A mutation in exon 10 of the gene, which alters a tryptophan codon (UGG) to a premature stop codon (UAG). The premature stop codon is predicted to result the expression of a mutant protein that lacks the last 4 transmembrane domains. (J:157223)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
