The Tennessee Mouse Genome Consortium: Identification of ocular mutants
The Tennessee Mouse Genome Consortium: Identification of ocular mutants
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DOI：
10.1017/s0952523805225087
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发表时间：
2005-09-01
影响因子：
1.9
通讯作者：
Goldowitz, D
中科院分区：
文献类型：
--
作者：
Jablonski, MM;Wang, XF;Goldowitz, D
田纳西小鼠基因组联盟（TMGC）开展以乙基亚硝基脲（ENU）为基础的诱变筛查已进入第五个年头，该筛查旨在检测影响眼睛和大脑的隐性突变。每个谱系都通过各种表型域进行测试，包括眼睛，神经组织学，行为，衰老，乙醇，药物，社会行为，听觉和癫痫域。利用高效的育种方案和田纳西州各大学的协调，在这个被称为TMGC的大型项目中，可以通过九个不同的表型域来评估enu诱导突变的小鼠。我们的目标是创建能够模拟人类疾病和疾病综合征的突变系，并使突变小鼠可用于科学研究界。在眼域内，使用裂隙灯生物显微镜、间接眼镜检查、眼底摄影、眼重、组织学和免疫组织化学来筛选小鼠的前、后段异常。截至2005年1月，我们已经筛选了958个谱系和4800只小鼠，不包括用于制图研究的小鼠。到目前为止，我们已经确定了7个具有原发性眼部异常的家系。6个突变谱系有视网膜或视网膜下畸变，而其余谱系表现为异常的眼睛大小。在大多数情况下，对这些突变小鼠的持续表征将导致突变基因的鉴定，并提供对每个基因功能的深入了解。这些突变小鼠的每一个谱系的小鼠都可以分发给研究人员进行独立研究。
The Tennessee Mouse Genome Consortium (TMGC) is in its fifth year of a ethylnitrosourea (ENU)-based mutagenesis screen to detect recessive mutations that affect the eye and brain. Each pedigree is tested by Various phenotyping domains including the eye, neurohistology, behavior, aging, ethanol, drug, social behavior, auditory, and epilepsy domains. The utilization of a highly efficient breeding protocol and coordination of various universities across Tennessee makes it possible for mice with ENU-induced mutations to be evaluated by nine distinct phenotyping domains within this large-scale project known as the TMGC. Our goal is to create mutant lines that model human diseases and disease syndromes and to make the mutant mice available to the scientific research community. Within the eye domain, mice are screened for anterior and posterior segment abnormalities using slit-lamp biomicroscopy, indirect ophthalmoscopy, fundus photography, eye weight, histology, and immunohistochemistry. As of January 2005, we have screened 958 pedigrees and 4800 mice, excluding those used in mapping studies. We have thus far identified seven pedigrees with primary ocular abnormalities. Six of the mutant pedigrees have retinal or subretinal aberrations, while the remaining pedigree presents with an abnormal eye size. Continued characterization of these mutant mice should in most cases lead to the identification of the mutated gene, as well as provide insight into the function of each gene. Mice from each of these pedigrees of mutant mice are available for distribution to researchers for independent study.