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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...

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Autores principales: Findlay, Amy S., McKie, Lisa, Keighren, Margaret, Clementson-Mobbs, Sharon, Sanchez-Pulido, Luis, Wells, Sara, Cross, Sally H., Jackson, Ian J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
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.
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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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