小鼠颤抖-2区域的物理图谱包含许多在史密斯-马吉尼斯综合征（17p11.2p11.2缺失）中常见缺失的基因。
A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).
作者信息
Probst F J, Chen K S, Zhao Q, Wang A, Friedman T B, Lupski J R, Camper S A
机构信息
Department of Human Genetics, University of Michigan, Ann Arbor 48109, USA.
出版信息
Genomics. 1999 Feb 1;55(3):348-52. doi: 10.1006/geno.1998.5669.
We report the construction of a physical map of the region of mouse chromosome 11 that encompasses shaker-2 (sh2), a model for the human nonsyndromic deafness DFNB3. DFNB3 maps within the common deletion region of Smith-Magenis syndrome (SMS), del(17)(p11.2p11.2). Eleven of the genes mapping within the SMS common deletion region have murine homologs on the sh2 physical map. The gene order in this region is not perfectly conserved between mouse and human, a finding to be considered as we engineer a mouse model of Smith-Magenis syndrome.
我们报告了小鼠11号染色体上包含shaker-2（sh2）区域的物理图谱构建情况，sh2是人类非综合征性耳聋DFNB3的一个模型。DFNB3定位于史密斯-马吉尼斯综合征（SMS）的常见缺失区域，即del(17)(p11.2p11.2)内。在SMS常见缺失区域内定位的11个基因在sh2物理图谱上有小鼠同源物。该区域的基因顺序在小鼠和人类之间并非完全保守，在我们构建史密斯-马吉尼斯综合征小鼠模型时应考虑这一发现。
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