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Allele : Ryr2<tm1.1Maya> ryanodine receptor 2, cardiac; targeted mutation 1.1, Masafumi Yano

Primary Identifier  MGI:4442645 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. The floxed neomycin resistance gene cassette that was inserted into intron 48 was removed by cre-mediated recombination, leaving a single loxP site.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • RyR2 R2474S,
  • RyR2 R2474S
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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

8 Publication categories

Trail: Allele