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小鼠X连锁发育突变体“衣衫褴褛”位于DXMit55和Xkh之间,与过度角化有关。

The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated with hyperkeratinization.

作者信息

Uwechue I C, Cooper B F, Goble C, Hacker T, Blair H J, Burke D T, Herman G, Boyd Y

机构信息

MRC Mammalian Genetics Unit, Harwell, Oxon, United Kingdom.

出版信息

Genomics. 1996 Oct 15;37(2):238-41. doi: 10.1006/geno.1996.0549.

Abstract

The X-linked mouse mutant phenotype, tattered (Td), is associated with prenatal lethality of males and has been mapped previously to the proximal region of the mouse X chromosome. We report here a refined position for Td and demonstrate that it lies in the approximately 0.9-cM interval between DXMit55 and Xkh. This enables us to predict that the human homologue lies either between CLCN5 and the evolutionary breakpoint that lies between GATA1 and PFC or distal to XK and proximal to the evolutionary breakpoint that lies between XK and DMD. Histological analysis of dorsal skin taken from 5-day-old heterozygous animals revealed that the mutation was associated with patches of hyperkeratinzation in the epidermis and in the hair follicles, accompanied by a mild inflammatory infiltrate in the underlying dermis.

摘要

X连锁小鼠突变表型“衣衫褴褛”(Td)与雄性小鼠的产前致死率相关,此前已将其定位到小鼠X染色体的近端区域。我们在此报告Td的精确定位,并证明它位于DXMit55和Xkh之间约0.9厘摩的区间内。这使我们能够预测,人类同源基因要么位于CLCN5与GATA1和PFC之间的进化断点之间,要么位于XK远端且DMD与XK之间的进化断点近端。对5日龄杂合动物背部皮肤的组织学分析显示,该突变与表皮和毛囊中的过度角化斑块相关,并伴有真皮层轻度炎症浸润。

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