1. Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function
- Author
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Luis Sanchez-Pulido, Lisa McKie, Sara Wells, Margaret A. Keighren, Sally H. Cross, Sharon Clementson-Mobbs, Ian J. Jackson, and Amy S. Findlay
- Subjects
0301 basic medicine ,Retinal degeneration ,Models, Molecular ,genetic structures ,Protein Conformation ,Mutant ,lcsh:Medicine ,Cell Count ,Biology ,medicine.disease_cause ,Article ,Retina ,03 medical and health sciences ,chemistry.chemical_compound ,Gene Knockout Techniques ,Mice ,0302 clinical medicine ,Sequence Homology, Nucleic Acid ,medicine ,Genetics ,Animals ,Humans ,Amino Acid Sequence ,Caenorhabditis elegans Proteins ,lcsh:Science ,Gene ,Eye diseases ,Mutation ,Multidisciplinary ,lcsh:R ,Membrane Proteins ,Retinal ,medicine.disease ,Phenotype ,eye diseases ,Cell biology ,030104 developmental biology ,medicine.anatomical_structure ,chemistry ,lcsh:Q ,sense organs ,030217 neurology & neurosurgery ,Photoreceptor Cells, Vertebrate - Abstract
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.
- Published
- 2020