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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. (J:303297)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
