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Allele : Ryr2<tm1Maya> ryanodine receptor 2, cardiac; targeted mutation 1, Masafumi Yano

Primary Identifier  MGI:4443127 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Ryr2
Transmission  Germline Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 49 was replaced with one in which nucleotide substitutions result in the amino acid substitution of arginine with serine at position 2473 in the encoded peptide (p.R2473S), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia (CPVT) patients. A floxed neomycin resistance gene cassette was inserted into intron 48.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • RyR2<R2474S-neo>,
  • RyR2<R2474S-neo>
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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