The targeting construct contains an attB site, mouse Hsp68 minimal promoter, a human regulatory region (H2), mouse Kitl cDNA, SV40, an attB site and FRT5. The construct and phiC31 mRNA were co-injected into a single pronucleus of FVB-H11P3 zygotes. H2 is regulatory enhancer located in an intergenic region 350 kb upstream of the Kitl transcription start site, it contains a non-coding SNP (rs12821256) associated with hair color. The ancestral (ANC) polymorphism (A) is associated with brown hair, and the BLD polymorphism (G) is associated with blond hair. This allele carries the A polymorphism. (J:248381)
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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
基因表达
相关疾病
参考文献
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion
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1

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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