Exons 5 through 7 were initially flanked by an upstream floxed tk-neo cassette and a downstream single loxP site, then deleted via cre mediated recombination in ES cells. In addition to lacking sequence encoding the large sialyl motif necessary for nucleotide sugar binding and enzymatic activity, the allele passed into the germline also contained a frameshift mutation within exon 8. Transcript was undetected by Northern blot analysis of homozygous mutant mice. (J:80884)
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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
Intragenic deletion
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1
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22

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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