A 1.3 kb fragment encompassing exon 2 and flanking intronic sequence was replaced with a neomycin selection cassette inserted by homologous recombination. The deleted region encoded both the DNA-binding and dimerization domains. An aberrant transcript resulting from a splice of exon 1 to exon 3 was identified by RT-PCR analysis of homozygous mutant liver and brain tissues. Sequence analysis indicated that the mutant transcript is out of frame and terminates in exon 3, encoding a polypeptide comprised of 31 residues. (J:81645)
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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
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
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1
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12

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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