Approximately 10 copies of a tyrosinase minigene (consisting of the Tyr distal enhancer in the reverse orientation upstream of the proximal promoter and 5 UTR and complete cDNA of the Tyr transcript and 3 UTR) inserted in a 2,327-bp deletion in the last intron of Fam172a. This Toupee line was generated in a forward genetic screen aimed at identifying genes with key roles in neural crest cells. RT-qPCR shows that Fam172a expression is down-regulated, down to approximately 15% on average, indicating a hypomorphic allele. No significant change in transcript expression is seen for the other genes flanking the insertion (Pou5f2, Nr2f1, and A830082K12Rik). (J:260599)
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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
FVB/N
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Insertion, Intragenic deletion
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1
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2

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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