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Allele : Ryr2<m2Btlr> ryanodine receptor 2, cardiac; mutation 2, Bruce Beutler

Primary Identifier  MGI:6268710 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 C to A transversion at base pair 11,879,496 (v38) on chromosome 13, or base pair 227,450 in the GenBank genomic region NC_000079. The mutation corresponds to residue 1,054 in the mRNA sequence NM_023868 within exon 8 of 105 total exons. The mutation results in a serine to arginine substitution at position 185 (S185R) in the RYR2 protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • arruda2,
  • arruda2
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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