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Allele : Ryr2<tm3.1Amks> ryanodine receptor 2, cardiac; targeted mutation 3.1, Andrew R Marks

Primary Identifier  MGI:5582510 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Ryr2
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 47 was replaced with a self-excising neomycin resistance cassette and a modified exon 47 in which nucleotide substitution(s) results(s) in the amino acid susbtitution of isoleucine for asparagine at position 2386 (N2386I), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia (CPVT) patients. This mutation results in a leaky channel. The final allele lacks the selection cassette.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • RyR2-N2386I,
  • RyR2-N2386I
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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