Symplastic spermatids (sys): a recessive insertional mutation in mice causing a defect in spermatogenesis.
Symplastic spermatids (sys): a recessive insertional mutation in mice causing a defect in spermatogenesis.
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症状性精子细胞（sys）：小鼠的隐性插入突变，导致精子发生缺陷。
DOI：
10.1073/pnas.87.13.5016
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发表时间：
1990
影响因子：
11.1
通讯作者：
Overbeek,PA
中科院分区：
文献类型：
--
作者：
MacGregor,GR;Russell,LD;VanBeek,ME;Hanten,GR;Kovac,MJ;Kozak,CA;Meistrich,ML;Overbeek,PA
描述了一种携带精子发生必需基因插入突变的转基因小鼠品系。转基因插入纯合子的男性是不育的，而女性纯合子以及男性和女性杂合子都表现出正常的生育能力。在纯合子雄性体内，发育中的精子细胞形成明显的异常多核合胞体(合体)，并且不完全成熟。此外，支持细胞中也可见异常的胞浆空泡化。基因组内转基因整合位点的一侧已被克隆，并用于显示转基因纯合性与突变表型之间的联系。侧翼定位于小鼠14号染色体，编码Es-10(Es-10)的基因附近约4个厘米器官。由于没有其他已知对精子发生至关重要的基因被定位到基因组的这一区域，而且突变的表型是独特的，转基因插入似乎影响了以前未确定的基因。我们将这种突变命名为“共生精子细胞”(Sys)。
A line of transgenic mice that carries an insertional mutation in a gene essential for spermatogenesis is described. Males homozygous for the transgenic insert are sterile, while female homozygotes and both male and female heterozygotes exhibit normal fertility. Developing spermatids in homozygous males form prominent abnormal multinucleated syncytia (symplasts) and do not complete maturation. In addition, abnormal cytoplasmic vacuolation is commonly seen in Sertoli cells. One flank of the transgenic integration site within the genome has been cloned and used to show linkage between homozygosity for the transgene and the mutant phenotype. The flank maps to mouse chromosome 14 approximately 4 centimorgans proximal to the gene encoding esterase-10 (Es-10). As no other gene that is known to be essential for spermatogenesis has been mapped to this region of the genome and as the mutant phenotype is unique, the transgenic insert appears to affect a previously unidentified gene. We have named the mutation "symplastic spermatids" (sys).