This mutation arose spontaneously in or around 1991 in the C57BL/6 colony of Dr. Alan Bradley. It has been used in linkage studies based on the location of the tyrosinase gene on Chr 7, and its phenotype is complemented by a tyrosinase mini-gene. Sequence analysis of exon 1 identified the same G-to-T transversion at coding nucleotide 230 (c.230G>T), resulting in replacement of arginine by leucine at amino acid position 77 (p.R77L), that is present in the albino 2 Jackson allele Tyrc-2J. It reverts at a very low frequency (there were two incidences in the original colony between 1992 and 1995), resulting in black pups in otherwise albino litters. (J:115975, J:115976)
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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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C57BL/6
Spontaneous
单点
--
1
14
14

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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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