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Allele : Ryr2<tm1Hhv> ryanodine receptor 2, cardiac; targeted mutation 1, Hector H Valdivia

Primary Identifier  MGI:3818448 Allele Type  Targeted
Gene  Ryr2 Transmission  Germline
Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+> Is Recombinase  false
Is Wild Type  false
molecularNote  Phosphorylation of the serine amino acid at 2808 modifies the activity of this gene product. A modified exon 55 containing a serine to alanine (S2808A) mutation and a translationally silent Mlu-I restriction site replaced the endogenous exon. A loxP-flanked neomycin cassette was also inserted downstream of the modified exon and was subsequently removed by mating founder mice with EIIa-cre transgenic mice. Mutant protein expression was confirmed in homozygote cardiomycotes by detection of protein with an Ryr2-specific antibody and a lack of signal with the phospho-specific RyR2-pS2808 antibody.
  • mutations:
  • Insertion,
  • Nucleotide substitutions,
  • Intragenic deletion
  • synonyms:
  • RyR2-S2808A,
  • RyR2-S2808A
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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

8 Publication categories