The open-eyelid mutation, lidgap-Gates, is an eight-exon deletion in the mouse Map3k1 gene

被引:9
作者
Juriloff, DM [1 ]
Harris, MJ [1 ]
Mah, DG [1 ]
机构
[1] Univ British Columbia, Dept Med Genet, Vancouver, BC V6T 1Z3, Canada
基金
加拿大健康研究院;
关键词
deletion; mutation; eyelid; mouse; MEKK1; map3k1; MAPKKK; lidgap; instability;
D O I
10.1016/j.ygeno.2004.10.002
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
The BALB/cGa mouse strain and its descendants, now called the SELH/Bc strain, have produced two waves of high frequency of spontaneous heritable mutations. One of these, the recessive lidgap-Gates (1g(Ga)) mutation, causes the same open-eyelids-at-birth phenotype as the gene knockout Mutations of Map3k1 and co-maps to distal Chr 13. The 1gGa mutation is demonstrated to be a 27.5-kb deletion of exons 2-9 in the Map3k1 gene, the first spontaneous mutant allele described at this locus. The 1gGa mutation is consistent with a pattern suggesting that the waves of mutation in BALB/cGa and its descendants tend to be large deletions or ETn insertions, whose elevated rate of Occurrence is due to an unknown mechanism. (C) 2004 Elsevier Inc. All rights reserved.
引用
收藏
页码:139 / 142
页数:4
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