第四外显子被替换为包含尿嘧啶和诺卡因抗性基因的载体,插入事件删除了95个bp,包括4号外显子的剪接起始点,并在第175位引入了终止密码突变。通过对纯合突变大脑组织的 Western blot 分析,未检测到正常蛋白。(来源:J:81968)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
插入,基因内删除
--
1
2
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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