Allele/Variant

Ryr2tm1Hhv

Species
Mus musculus
Symbol
Ryr2tm1Hhv
Category
allele
Allele of gene
Ryr2
Transgenic Constructs
None
Synonyms
  • RyR2-S2808A
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations