A T to C transition in codon 919, the equivalent codon to human 918, resulted in a protein which encoded threonine instead of methionine at this position. This mutation corresponds to mutations in human codon 918 commonly found in humans with multiple endocrine neoplasia type 2 (MEN2). Silent mutations in codons 920 and 921 abolished a MunI endonuclease site. An adjacent loxP flanked neomycin cassette was removed by crossing mice carrying Rettm2Cos to mice expressing Cre under the control of a Beta-actin promoter. (J:60659)
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基础信息

模型ID
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等位基因类型
突变
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相关基因
相关疾病
参考文献
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Single point
--
1
23
11

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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