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Allele : Ryr1<tm3.1Alle> ryanodine receptor 1, skeletal muscle; targeted mutation 3.1, Paul D Allen

Primary Identifier  MGI:6515829 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Ryr1
Transmission  Germline Strain of Origin  129
Is Recombinase  false Is Wild Type  false
molecularNote  A glycine to arginine change was introduced at amino acid 2435 (p.G2435R) in exon 45 and a loxP-flanked neomycin cassette was inserted downstream of this exon. Cre-mediated recombination removed the selection cassette. The G2435R mutation corresponds to amino acid position 2434 in the human gene and this variant is frequently associated with malignant hyperthermia in UK patients.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • RYR1 pG2435R,
  • RYR1 pG2435R
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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

6 Publication categories