通过体内Cre介导的重组,从Ptchtm1Bjw中去除了包含第3外显子和FRT引导的neo cassette的floxed序列。在突变小鼠中通过RT-PCR分析检测到了剪切后缺失区域的片段转录本。突变转录本编码了前117个氨基酸,接着是24个错义突变,以及一个终止密码子,推测导致蛋白质在第一个跨膜域后约被截短了13个氨基酸。(来源:J:85040)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129T2/SvEms
Targeted
插入,基因内删除
--
1
16
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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