第8外显子被包含有相邻胸苷激酶和诺卡因抗性基因的构建插入所打断。通过分析来自纯合突变大脑组织的总RNA进行Northern blot,检测到了少量剪切片段。对纯合突变大脑组织的蛋白质提取物进行Western blot分析,未发现正常大脑组织提取物中观察到的四种isoform,但检测到了大约190kD的异常转录本,尽管量较低。(来源:J:43838)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
Targeted
插入
--
1
6
24

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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