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Allele : Abcg5<trac> ATP binding cassette subfamily G member 5; thrombocytopenia and cardiomyopathy

Primary Identifier  MGI:2156990 Allele Type  Spontaneous
Attribute String  Null/knockout Gene  Abcg5
Inheritance Mode  Recessive Strain of Origin  A/J
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • cmp,
  • tac,
  • cardiomyopathy,
  • cardiomyopathy,
  • tac,
  • cmp
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

3 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele