一种新霉素抗性基因座替换了2.7kb的序列,包括52bp编码C端丰富半胱氨酸区起始的外显子。RT-PCR结果显示,无论是纯合子还是杂合子小鼠中,都产生了缺失突变的转录本。对来自纯合子小鼠肌肉或肺组织的提取物进行 Western blot 分析证实,这个等位基因未表达出可检测到的蛋白质。(来源:J:39218)

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
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1
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59

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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