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Allele : Ryr2<tm2Amks> ryanodine receptor 2, cardiac; targeted mutation 2, Andrew R Marks

Primary Identifier  MGI:3802940 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Ryr2
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 49 was replaced with one in which nucleotide substitutions resulted in the amino acid substitution of serine for arginine at position 2474 (R2474S), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia (CPVT) patients, and a self-excising, floxed neo cassette was inserted downstream of exon 50. The neo cassette excised itself leaving a loxP site behind.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Ryr2-R2474S,
  • Ryr2-R2474S
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

3 Carried By

0 Driven By

12 Publication categories