这个基因通过同源重组,将第五外显子和邻近的内含子序列替换为诺卡因抗性基因座,导致了突变。这个突变删除了120-154的C端氨基酸,它们构成了活性通道的结构和功能区。通过Northern blot对心脏组织的分析,证实了纯合突变动物中基因表达的缺失(来源:J:60470)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
插入,基因内删除
--
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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