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A GAC to AAA change resulting in an aspartate to lysine substitution at amino acid 2594 (p.D2594K) was introduced in the channels gating domain. The inserted FRT-flanked neomycin selection cassette was removed via flp-mediated recombination. This mutation increases the sensitivity of IP3-induced calcium release and is a gain-of-function allele. (J:341866)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
