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Allele : Ryr2<M1Btlr> ryanodine receptor 2, cardiac; mutation 1, Bruce Beutler

Primary Identifier  MGI:6268706 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Ryr2
Inheritance Mode  Semidominant Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU-induced G to A transition at base pair 11,643,895 (v38) on chromosome 13, or base pair 463,051 in the GenBank genomic region NC_000079 encoding Ryr2. The mutation corresponds to residue 11,340 in the mRNA sequence NM_023868 within exon 77 of 105 total exons. The mutation results in an arginine (R) to glutamine (Q) substitution at position 3,614 (R3614Q) in the Ryr2 protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • Arruda,
  • Arruda
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories