在通道门控区域引入了一种GAC转为AAA的改变,导致第2594位的天冬氨酸被赖氨酸替代(p.D2594K)。通过FLP介导的重组,删除了插入的含FRT标记的诺卡因选择座。这种突变增强了IP3诱导的钙释放敏感性,是一个功能获益等位基因。(来源:J:341866)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
核苷酸替换
--
1
4
2

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

References Literature

Title
PMID
Journal
Year
IF
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