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Allele : Ryr1<em1Tmur> ryanodine receptor 1, skeletal muscle; endonuclease-mediated mutation 1, Takashi Murayama
Primary Identifier  MGI:7258399 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Ryr1
Strain of Origin  Not Specified Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a CGA to TGC codon change resulting in an arginine to cysteine substitution at residue 2509 (p.R2509C). This corresponds to the p.R2508C mutation in humans with malignant hyperthermia.
  • mutations:
  • Nucleotide substitutions
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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3 Publication categories





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