Mutations (arginine codon 34 (AGG) to alanine (GCG) (p.R34A) and lysine codon 38 (AAA) to alanine (GCA) (p.K38A)) were introduced into the N-terminal Cardin-Weintraub motif encode by exon 1 to reduce high-affinity Shh-proteoglycan interaction without altering Shh's affinity for its receptor. For targeting purposes, a floxed neomycin cassette was introduced into intron 1 and subsequently removed by transient expression of cre recombinase. Expression levels of the mutant protein in homozygotes was identical to wild-type as determined by immunoblot analysis of cerebellar extracts. (J:150524)
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基础信息

模型ID
品系来源
等位基因类型
突变
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参考文献
129S4/SvJae
Targeted
Insertion, Nucleotide substitutions
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1
18
2

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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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