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Allele : Ryr2<tm1.1Clhh> ryanodine receptor 2, cardiac; targeted mutation 1.1, Christopher Huang

Primary Identifier  MGI:5432111 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Ryr2
Transmission  Germline Strain of Origin  129S/SvEv
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 45 was replaced with one in which nucleotide substitutions (CCC to TCT) result in the amino acid substitution of serine for proline at 2328 (P2328S), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia (CPVT) patients. A floxed neo cassette inserted downstream of exon 45 was removed by cre mediated recombination.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • RyR2<P2328S>,
  • RyR2<P2328S>,
  • RyR2<s>,
  • RyR2<s>
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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

9 Publication categories

Trail: Allele