This mutation was discovered in an ENU mutagenesis screen. It comprises a T-to-A transversion at nucleotide 93085 of the genomic sequence, within an intron, which results in the insertion of the 5-base pair sequence ATCAG following nucleotide 1791 of the mRNA. This in turn causes a translational frame shift, introducing 26 new amino acids before a premature termination codon. No CD45/PTPRC protein is visually detectable on Western blot analysis of mutant thymocytes, and expression of CD45 is reduced on CD19+ B cells of homozygous mutant mice.
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基础信息

模型ID
品系来源
等位基因类型
突变
遗传方式
相关基因
相关疾病
参考文献
C57BL/6JSfdAnu
Chemically induced
Single point
Recessive
1
2
1

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标签摘要:
hm: 纯合子
ht: 杂合子
cn: 条件基因型
cx: 复合型:涉及多基因组
tg: 转基因
ot: 其他:半合子、不确定...
(F): 雌性
(M): 雄性
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N: 正常表型
(#): 上标括号内为相关疾病数量
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