The mutation is a T-to-A transversion at the second base of exon 6, altering this codon from a tryptophan to an arginine. The mutation also leads to an additional splicing signal, skipping the first 3 bp of exon 6 and deletion of the codon from the encoded mRNA. Both types of mRNA are present in homozygous mutant lenses. The fourth Greek key motif of the protein is predicted not to form as a result of these mutations. (J:58912)
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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
C3HeB/FeJ
Chemically induced
Single point
Semidominant
1
5
1

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
观察到的表型
N: 正常表型
(#): 上标括号内为相关疾病数量
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