通过将9号染色体末端的三分之一替换为PGK-neo cassette,实现了钙蛋白酶小亚基基因的突变。在纯合突变ES细胞的提取物中未检测到钙蛋白酶活性。尽管大亚基基因未改变且能转录,但缺少小亚基时,产生的蛋白质是不稳定的。(来源:J:74966)

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

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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