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Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function.
Scientific Reports ( IF 3.8 ) Pub Date : 2020-01-16 , DOI: 10.1038/s41598-019-57398-4 Amy S Findlay 1 , Lisa McKie 1 , Margaret Keighren 1 , Sharon Clementson-Mobbs 2 , Luis Sanchez-Pulido 1 , Sara Wells 2 , Sally H Cross 1 , Ian J Jackson 1, 3
Scientific Reports ( IF 3.8 ) Pub Date : 2020-01-16 , DOI: 10.1038/s41598-019-57398-4 Amy S Findlay 1 , Lisa McKie 1 , Margaret Keighren 1 , Sharon Clementson-Mobbs 2 , Luis Sanchez-Pulido 1 , Sara Wells 2 , Sally H Cross 1 , Ian J Jackson 1, 3
Affiliation
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Fam151b is a mammalian homologue of the C. elegans menorin gene, which is involved in neuronal branching. The International Mouse Phenotyping Consortium (IMPC) aims to knock out every gene in the mouse and comprehensively phenotype the mutant animals. This project identified Fam151b homozygous knock-out mice as having retinal degeneration. We show they have no photoreceptor function from eye opening, as demonstrated by a lack of electroretinograph (ERG) response. Histological analysis shows that during development of the eye the correct number of cells are produced and that the layers of the retina differentiate normally. However, after eye opening at P14, Fam151b mutant eyes exhibit signs of retinal stress and rapidly lose photoreceptor cells. We have mutated the second mammalian menorin homologue, Fam151a, and homozygous mutant mice have no discernible phenotype. Sequence analysis indicates that the FAM151 proteins are members of the PLC-like phosphodiesterase superfamily. However, the substrates and function of the proteins remains unknown.
中文翻译：
Fam151b是线虫线虫menorin基因的小鼠同源物，对视网膜功能至关重要。
Fam151b是秀丽隐杆线虫menorin基因的哺乳动物同源物，其参与神经元分支。国际小鼠表型研究协会（IMPC）旨在敲除小鼠中的每个基因，并对突变动物进行全面表型化。该项目确定Fam151b纯合敲除小鼠具有视网膜变性。我们显示它们从睁眼时没有光感受器功能，如缺少视网膜电图（ERG）反应所证明。组织学分析表明，在眼睛发育过程中会产生正确数量的细胞，并且视网膜各层正常分化。但是，在P14处睁开眼睛后，Fam151b突变型眼睛表现出视网膜应力的迹象，并迅速失去感光细胞。我们已经将第二个哺乳动物menorin同源物Fam151a进行了突变，和纯合突变小鼠没有可分辨的表型。序列分析表明，FAM151蛋白是PLC样磷酸二酯酶超家族的成员。但是，蛋白质的底物和功能仍然未知。
更新日期：2020-01-16
中文翻译：
Fam151b是线虫线虫menorin基因的小鼠同源物，对视网膜功能至关重要。
Fam151b是秀丽隐杆线虫menorin基因的哺乳动物同源物，其参与神经元分支。国际小鼠表型研究协会（IMPC）旨在敲除小鼠中的每个基因，并对突变动物进行全面表型化。该项目确定Fam151b纯合敲除小鼠具有视网膜变性。我们显示它们从睁眼时没有光感受器功能，如缺少视网膜电图（ERG）反应所证明。组织学分析表明，在眼睛发育过程中会产生正确数量的细胞，并且视网膜各层正常分化。但是，在P14处睁开眼睛后，Fam151b突变型眼睛表现出视网膜应力的迹象，并迅速失去感光细胞。我们已经将第二个哺乳动物menorin同源物Fam151a进行了突变，和纯合突变小鼠没有可分辨的表型。序列分析表明，FAM151蛋白是PLC样磷酸二酯酶超家族的成员。但是，蛋白质的底物和功能仍然未知。
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