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Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function
- Source :
- Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020), Scientific Reports, Findlay, A, McKie, L, Keighren, M, Clementson-Mobbs, S, Sanchez-Pulido, L, Wells, S, Cross, S & Jackson, I 2020, ' Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function ', Scientific Reports, vol. 10, 437 . https://doi.org/10.1038/s41598-019-57398-4
- Publication Year :
- 2020
- Publisher :
- Nature Publishing Group, 2020.
-
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.
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 20452322
- Volume :
- 10
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Scientific Reports
- Accession number :
- edsair.doi.dedup.....30664b8605d71f875785cb1cbd392ba9