Zobeley E, Sufalko D K, Adkins S, Burmeister M
Mental Health Research Institute, University of Michigan, Ann Arbor 48109-0720, USA.
Genomics. 1998 Jun 1;50(2):260-6. doi: 10.1006/geno.1998.5298.
The Ames waltzer (av) mouse mutant is an autosomal recessive deafness mutation on mouse Chromosome 10. Previously, av had not been mapped relative to molecular markers. We have performed an intersubspecific backcross with Mus musculus castaneus and mapped microsatellite markers in this cross. Toothpick PCR on previously frozen tissue samples from offspring was used as an efficient strategy to screen a large number of animals quickly. In 1258 progeny tested we found three recombinants for each of the flanking markers D10Mit199 and D10Mit64. In addition, nine different genes (Ank3, Bcr, Gnaz, Tfam, Mif, Mmp11, Dcoh, Pyp, and Gstt2) were mapped and eliminated genetically as candidate genes for av. av had been discussed as a potential mouse model for the human deafness loci Usher syndrome type ID (USH1D) and DFNB12. Comparative mapping shows that av maps near an evolutionary break point and makes it unlikely that those loci are human homologues of av. A human homologue of av is predicted to lie either on 22q11.2 or on 10q21. The orientation of conserved linkage groups between these two human chromosomal regions relative to mouse Chromosome 10 was determined.
艾姆斯华尔兹（av）小鼠突变体是小鼠10号染色体上的一种常染色体隐性耳聋突变。此前，av尚未相对于分子标记进行定位。我们进行了小家鼠（Mus musculus castaneus）的种间回交，并在该杂交中对微卫星标记进行了定位。对来自后代的先前冷冻组织样本进行牙签PCR，作为一种有效策略可快速筛选大量动物。在检测的1258个后代中，我们发现侧翼标记D10Mit199和D10Mit64各自有三个重组体。此外，九个不同的基因（Ank3、Bcr、Gnaz、Tfam、Mif、Mmp11、Dcoh、Pyp和Gstt2）被定位，并从遗传学上排除作为av的候选基因。av曾被讨论作为人类耳聋位点Usher综合征1D型（USH1D）和DFNB12的潜在小鼠模型。比较定位表明，av定位于一个进化断点附近，这使得这些位点不太可能是av的人类同源物。预计av的人类同源物位于22q11.2或10q21上。确定了这两个人类染色体区域之间相对于小鼠10号染色体的保守连锁群的方向。
