Male C57BL/6 mice were treated with ENU and subsequent generations screened for reduced expression of H2-A (mouse MHC-II) protein on the surface of peripheral blood lymphocytes (PBLs), resulting in the identification of this allele. The point mutation of the conserved A at position 408 of intron 2 branch site to T leads to aberrant splicing, resulting in reduced expression of H-2A mRNA and protein to around 12% of wildtype levels. In addition to reduced level of wildtype H-2A mRNA, the A-to-T branch site point mutation causes the formation of two aberrant mRNAs species, one of which is spliced using a cryptic splice acceptor in intron 2, while the other results from intron 2 read-through. Both of these aberrant mRNA species encode non-functional premature terminated H-2A protein. (J:244717)
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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
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C57BL/6
Chemically induced
Single point
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1
3
3

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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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