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Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function
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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6965129/ https://www.ncbi.nlm.nih.gov/pubmed/31949211 http://dx.doi.org/10.1038/s41598-019-57398-4 |
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author | Findlay, Amy S. McKie, Lisa Keighren, Margaret Clementson-Mobbs, Sharon Sanchez-Pulido, Luis Wells, Sara Cross, Sally H. Jackson, Ian J. |
author_facet | Findlay, Amy S. McKie, Lisa Keighren, Margaret Clementson-Mobbs, Sharon Sanchez-Pulido, Luis Wells, Sara Cross, Sally H. Jackson, Ian J. |
author_sort | Findlay, Amy S. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6965129 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-69651292020-01-23 Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function Findlay, Amy S. McKie, Lisa Keighren, Margaret Clementson-Mobbs, Sharon Sanchez-Pulido, Luis Wells, Sara Cross, Sally H. Jackson, Ian J. Sci Rep Article 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. Nature Publishing Group UK 2020-01-16 /pmc/articles/PMC6965129/ /pubmed/31949211 http://dx.doi.org/10.1038/s41598-019-57398-4 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Article Findlay, Amy S. McKie, Lisa Keighren, Margaret Clementson-Mobbs, Sharon Sanchez-Pulido, Luis Wells, Sara Cross, Sally H. Jackson, Ian J. Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function |
title | Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function |
title_full | Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function |
title_fullStr | Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function |
title_full_unstemmed | Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function |
title_short | Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function |
title_sort | fam151b, the mouse homologue of c.elegans menorin gene, is essential for retinal function |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6965129/ https://www.ncbi.nlm.nih.gov/pubmed/31949211 http://dx.doi.org/10.1038/s41598-019-57398-4 |
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