An ENU-induced G to A transition at the first nucleotide of the fifth intron disrupts the mRNA splice donor sequence resulting in production of two aberrantly spliced transcripts that shift the translation reading frame and lead to premature termination codons truncating the protein either immediately before or after the first of the three transmembrane domains. Immunoblot analysis of activated T-cell lysates from homozygous mutant mice using a monoclonal antibody to an N-terminal peptide of the protein verified the absence of the ~27 kD wild-type protein and detected only trace levels of a ~20 kDa protein corresponding to the larger abnormally spliced mRNA encoding through the first transmembrane segment. (J:188722, J:206813)
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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
--
3

表型特征

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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