Seo K W, Miyoshi H, Kon Y, Watanabe T
Laboratory of Experimental Animal Science, Graduate School of Veterinary Medicine, Hokkaido University, Sapporo 060, Japan.
Mamm Genome. 1997 Aug;8(8):578-80. doi: 10.1007/s003359900507.
We found a new X-linked dominant mouse mutation. This mouse has the same phenotype as Td, which exhibits hyperkeratotic skin, reduced viability in affected females, a tendency to be smaller, lighter weight than the normal sibs during weaning age, and prenatal lethality in affected males. To map the locus, we tested 267 progeny from an intraspecific backcross between affected females and wild-origin strain males. Polymerase chain reaction (PCR) was performed with microsatellite markers of the proximal region of the mouse X Chromosome (Chr). This mutant showed no recombination with DXMit 123, DXMit 55, or DXMit 26. The gene position and phenotype of this mutant were very similar to those of Td. Therefore, it is speculated that the new mutant gene is a multiple allele of Td, and we designated it Tattered-Hokkaido (Tdho). Linkage analysis of these animals suggested a possible gene order of cen-(Tdho, DXMit123, DXMit55, DXMit26)-DXMit161-DXMit54-DXMit103-DXMit52 -DXMit190-DXMit138) in the X Chr. Prenatal lethality of male mutants was also investigated, with 12.5 to 16.5 embryonic day (E) backcrossed embryos from affected F1 females. It was found that the male mutants died between E12.5 and E14.5. The cause of death of male mutants is discussed in relation with the other proximal genes of the X Chr.
我们发现了一种新的X连锁显性小鼠突变。这种小鼠具有与Td相同的表型,表现为皮肤角化过度,受影响的雌性小鼠活力降低,体型有变小的趋势,在断奶期体重比正常同胞轻,且受影响的雄性小鼠存在产前致死性。为了定位该基因座,我们对受影响的雌性小鼠与野生型品系雄性小鼠进行种内回交产生的267只后代进行了检测。使用小鼠X染色体(Chr)近端区域的微卫星标记进行聚合酶链反应(PCR)。该突变体与DXMit 123、DXMit 55或DXMit 26没有发生重组。该突变体的基因位置和表型与Td非常相似。因此,推测新的突变基因是Td的复等位基因,我们将其命名为北海道破布(Tdho)。对这些动物的连锁分析表明,在X Chr中可能的基因顺序为cen -(Tdho、DXMit123、DXMit55、DXMit26)- DXMit161 - DXMit54 - DXMit103 - DXMit52 - DXMit190 - DXMit138)。我们还研究了雄性突变体的产前致死性,使用了来自受影响的F1雌性小鼠的12.5至16.5天胚胎期(E)的回交胚胎。发现雄性突变体在E12.5至E14.5之间死亡。结合X Chr的其他近端基因讨论了雄性突变体的死亡原因。