Southern blot analysis showed that this allele is the result of a 5.2 kb intracisternal A particle (IAP) transposon insertion in an antisense orientation immediately 5' of the first coding exon of the agouti gene. This results in ectopic and differential expression of agouti protein via utilization of a cryptic promoter within the IAP 5' long terminal repeat (LTR) and variable methylation. Methylation assay results indciate that the agouti and yellow mosaic phenotype characteristic of this allele is due to differential epigenetic methylation of the IAP. mRNA from this allele was found to be ectopically over-expressed in several adult tissues from heterozygous mice. The transcript was the same size as mRNA from the wild-type allele. The mutation occurred in a C3H/HeJ A allele. (J:18848, J:21244, J:79708)
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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
(C57BL/6J x C3H/HeJ)F1/J
Spontaneous
Transposon insertion
Dominant
1
1
3

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
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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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