Nucleotide 409 was changed from a C to T in exon 3 and a self-excising neo cassette was inserted in intron 3 deleting 23 bp of sequence via homologous recombination. The mutation in exon 3 changes an arginine into a stop codon. RNA in situ hybridization showed a 70% reduction in mRNA expression in pancreatic islets from homozygous mice. However, western blot analysis failed to detect any protein in this tissue in homozygous mice. This mutation is analogous to the human p.Arg138* variant. (J:264368)
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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/6NTac
Targeted
Insertion, Intragenic deletion, Single point
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1
1
2

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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