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Allele : Ryr2<tm2.1Maya> ryanodine receptor 2, cardiac; targeted mutation 2.1, Masafumi Yano

Primary Identifier  MGI:5432932 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 43 was replaced with one in which nucleotide substitutions result in the amino acid substitution of serine with leucine at position 2245 in the encoded peptide (p.S2245L), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia patients. The floxed neomycin resistance gene cassette that was inserted into intron 43 was removed by cre-mediated recombination.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • RyR2<S2246L>,
  • RyR2<S2246L>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories