A T-to-A transversion mutation is predicted to result in a phenylalanine to isoleucine change at position 1800 in the encoded protein. This mutation is predicted to lie within the tail domain of the protein. Northern blot analysis indicated that mRNA expression, size, and stability were unaffected. Immunoblot analysis showed that 46% of the normal level of the protein was expressed in testis and 18% of the normal level in kidney. (J:49926)
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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
BALB/cRl
Chemically induced
Single point
Recessive
1
15
6

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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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