Shb null allele is inherited with a transmission ratio distortion and causes reduced viability in utero
Shb null allele is inherited with a transmission ratio distortion and causes reduced viability in utero
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DOI：
10.1002/dvdy.21257
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发表时间：
2007-09-01
影响因子：
2.5
通讯作者：
Welsh, Michael
中科院分区：
文献类型：
--
作者：
Kriz, Vitezslav;Mares, Jaroslav;Welsh, Michael
SHB是一种含有Src同源2结构域的衔接蛋白，已发现其参与许多细胞应答。我们已经产生了Shb敲除小鼠。在C57 B16背景下未获得Shb（-/-）幼崽或胚胎，表明在该遗传背景下Shb-基因失活导致的早期缺陷。在混合遗传背景（FVB/C57 B16/129 Sv）中培育Shb基因失活（Shb（+/-））的杂合子，显示无效等位基因的传递率失真，Shb（+/+）和Shb（-/-）动物数量减少，但Shb（+/-）动物数量增加。Shb-等位基因与各种形式的畸形相关，解释了Shb（-/-）后代数量的相对减少。出生的Shb（-/-）动物是可行的，可生育的，没有明显的缺陷。然而，Shb（+/-）雌性小鼠优先排卵Shb（-）卵母细胞解释了Shb（+/+）小鼠的频率降低。我们的研究表明SHB在生殖和发育过程中的作用。
SHB is an Src homology 2 domain-containing adapter protein that has been found to be involved in numerous cellular responses. We have generated an Shb knockout mouse. No Shb(-/-) pups or embryos were obtained on the C57B16 background, indicating an early defect as a consequence of Shb- gene inactivation on this genetic background. Breeding heterozygotes for Shb gene inactivation (Shb(+/-)) on a mixed genetic background (FVB/C57B16/129Sv) reveals a distorted transmission ratio of the null allele with reduced numbers of Shb(+/+) and Shb(-/-) animals, but increased number of Shb(+/-) animals. The Shb- allele is associated with various forms of malformations, explaining the relative reduction in the number of Shb(-/-) offspring. Shb(-/-) animals that were born were viable, fertile, and showed no obvious defects. However, Shb(+/-) female mice ovulated preferentially Shb(-) oocytes explaining the reduced frequency of Shb(+/+) mice. Our study suggests a role of SHB during reproduction and development.