A neomycin resistance cassette, corrected for a point mutation believed to affect the transformation efficiency of ES cells, was used to disrupt exon 9, which is common to all of the isoforms. The mutation results in the introduction of several stop codons downstream of the insertion. FACS analysis using antibodies for multiple isoforms showed an absence of cell surface expression in homozygous mutant mice. A lack of encoded protein was further confirmed by Western blot analysis of thymus lysates. (J:33466)
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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
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion
--
1
2
32

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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