Eales B A, Nahas M, Biddle F G
Department of Medical Genetics, University of Calgary, AB, Canada.
Genome. 1996 Jun;39(3):520-7. doi: 10.1139/g96-066.
The POSCH-2 Y chromosome from the poschiavinus variety of Mus musculus domesticus causes incomplete testis development in the recessive autosomal background of the C57BL/6J laboratory mouse strain. Testis development is normal with the POSCH-2 Y in its native strain background as well as in some strains of the laboratory mouse such as DBA/2J. The phenotype or expression of XY gonadal hermaphroditism in a C57BL/6J strain, which was constructed to be consomic for the POSCH-2 Y, is a threshold trait in which liability is normally distributed and thresholds in the development of the testis define the probability of observing XY embryos with different combinations of ovaries, ovotestes, and testes. The difference in this testis-determining autosomal or Tda trait between the C57BL/6J and DBA/2J strain pair has been demonstrated to be multigenic. We conducted a survey among different strains of the laboratory mouse by test mating females with C57BL/6J.Y-POS males that are consomic for the POSCH-2 Y. We identified five groups of strains with significantly different response of XY gonadal hermaphroditism in their XY-POS F1 test embryos. In test embryos, four groups of strains produced gonadal hermaphroditism with different distributions of the types of gonad that appear to have the same variance or shape of a normally distributed liability, but the means of the distributions are at different locations on a scale of gonadal development. The fifth group of strains produced only tests in the test embryos. Several additional matings produced results suggesting that a model of dominance, in the direction of more complete testis development, could interpret the strain differences. The differences in response to the POSCH-2 Y chromosome among the five groups of strains may represent the phenotypes of the genetic recombinants in the Tda trait that were suggested previously by a segregation analysis between C57BL/6J and DBA/2J. The strains may also provide the tools to further dissect the allelic differences and locus determinants of the Tda trait.
小家鼠波希阿维努斯变种的POSCH - 2 Y染色体在C57BL/6J实验室小鼠品系的隐性常染色体背景下会导致睾丸发育不完全。在其原生品系背景以及一些实验室小鼠品系(如DBA/2J)中,携带POSCH - 2 Y染色体时睾丸发育正常。在构建为携带POSCH - 2 Y染色体同系的C57BL/6J品系中,XY性腺两性畸形的表型或表达是一种阈值性状,其中易感性呈正态分布,睾丸发育中的阈值定义了观察到具有不同卵巢、卵睾和睾丸组合的XY胚胎的概率。已证明C57BL/6J和DBA/2J品系对之间这种睾丸决定常染色体或Tda性状的差异是多基因的。我们通过将雌性小鼠与携带POSCH - 2 Y染色体同系的C57BL/6J.Y - POS雄性小鼠进行测交,对不同的实验室小鼠品系进行了调查。我们确定了五组品系,它们在XY - POS F1测交胚胎中对XY性腺两性畸形的反应有显著差异。在测交胚胎中,四组品系产生了性腺两性畸形,性腺类型分布不同,这些分布似乎具有相同的方差或正态分布易感性的形状,但分布的均值在性腺发育尺度上处于不同位置。第五组品系在测交胚胎中只产生睾丸。另外几次交配产生的结果表明,朝着更完全睾丸发育方向的显性模型可以解释品系差异。五组品系对POSCH - 2 Y染色体反应的差异可能代表了之前通过C57BL/6J和DBA/2J之间的分离分析所暗示的Tda性状中遗传重组体的表型。这些品系也可能提供进一步剖析Tda性状的等位基因差异和基因座决定因素的工具。