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Allele : Ryr2<m3Btlr> ryanodine receptor 2, cardiac; mutation 3, Bruce Beutler

Primary Identifier  MGI:6268714 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Ryr2
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU-induced A to T transversion at base pair 11,555,448 (v38) on chromosome 13, or base pair 551,498 in the GenBank genomic region NC_000079. The mutation corresponds to residue 15,287 in the mRNA sequence NM_023868 within exon 104 of 105 total exons. The mutation results in a threonine to serine substitution at position 4,930 (T4930S) in the RYR2 protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • arruda3,
  • arruda3
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele