The mutation in this allele comprises a small translocation insertion that placed a 3.3 kb fragment of Chr 10 into intron 1 of the Tbx10 gene. This inserted sequence includes exon 1 of the Tebp gene. RT-PCR analysis of Tbx10 expression revealed that the full-length trancript is expressed normally in mutant mice, and that a chimeric transcript consisting of the Tebp exon 1 of the inserted sequence fused in-frame to exon 2 of the Tbx10 gene is expressed ectopically. This chimeric transcript is predicted to encode a trucated, but functional protein that is similar to a normal variant. (J:89946)
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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
C3.Cg-Lepob
Spontaneous
Insertion
Semidominant
1
--
9

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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