Zhou E, Grimes P, Favor J, Koeberlein B, Pretsch W, Neuhauser-Klaus A, Sidjanin D, Stambolian D
Department of Ophthalmology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Mamm Genome. 1997 Mar;8(3):178-81. doi: 10.1007/s003359900385.
The Tcm mutation in the mouse is an autosomal dominant ocular malformation manifesting as microphthalmia, iris dysplasia, cataract, and coloboma. As a first step to cloning the Tcm gene, we report the localization of the Tcm mutation with respect to known microsatellite markers. Backcross progeny carrying the Tcm mutation were produced by mating Tcm/+ heterozygous mice to normal C57BL/6 partners. Genomic DNA from each mouse was subjected to PCR analysis to identify simple sequence length polymorphisms. Our results locate Tcm to Chr 4 and suggest candidate genes responsible for the Tcm phenotype. Finally, ocular histopathology was done in 3-week-old animals to define the extent of the malformation.
小鼠中的Tcm突变是一种常染色体显性眼部畸形,表现为小眼症、虹膜发育异常、白内障和缺损。作为克隆Tcm基因的第一步,我们报告了Tcm突变相对于已知微卫星标记的定位情况。通过将Tcm/+杂合小鼠与正常的C57BL/6小鼠交配,产生了携带Tcm突变的回交后代。对每只小鼠的基因组DNA进行PCR分析,以鉴定简单序列长度多态性。我们的结果将Tcm定位到第4号染色体,并提示了导致Tcm表型的候选基因。最后,对3周龄动物进行了眼部组织病理学检查,以确定畸形的程度。