Buckwalter M S, Katz R W, Camper S A
Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109-0618.
Genomics. 1991 Jul;10(3):515-26. doi: 10.1016/0888-7543(91)90430-m.
Ames dwarf (df) is an autosomal recessive mutation characterized by severe dwarfism and infertility. This mutation provides a mouse model for panhypopituitarism. The dwarf phenotype results from failure in the differentiation of the cells which produce growth hormone, prolactin, and thyroid stimulating hormone. Using the backcross (DF/B-df/df X CASA/Rk) X DF/B-df/df, we confirmed the assignment of df to mouse chromosome 11 and demonstrated recombination between df and the growth hormone gene. This backcross is an invaluable resource for screening candidate genes for the df mutation. The df locus maps to less than 1 cM distal to Pad-1 (0.85 +/- 0.85 cM). Two new genes localized on mouse chromosome 11, Rpo2-1, and Edp-1, map to a region of conserved synteny with human chromosome 17. The localization of the alpha 1 adrenergic receptor, Adra-1, extends a known region of synteny conservation between mouse chromosome 11 and human chromosome 5, and suggests that a human counterpart to df would map to human chromosome 5.
艾姆斯侏儒（df）是一种常染色体隐性突变，其特征为严重侏儒症和不育。这种突变提供了一种全垂体功能减退的小鼠模型。侏儒表型是由于产生生长激素、催乳素和促甲状腺激素的细胞分化失败所致。通过回交（DF/B-df/df×CASA/Rk）×DF/B-df/df，我们确认了df位于小鼠第11号染色体上，并证明了df与生长激素基因之间的重组。这种回交是筛选df突变候选基因的宝贵资源。df基因座定位于Pad-1远端小于1厘摩处（0.85±0.85厘摩）。位于小鼠第11号染色体上的两个新基因Rpo2-1和Edp-1，定位于与人类第17号染色体同源的保守区域。α1肾上腺素能受体Adra-1的定位扩展了小鼠第11号染色体和人类第5号染色体之间已知的同源保守区域，并表明df的人类对应物将定位于人类第5号染色体上。
