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.
Highlights
Fam151b is a mammalian homologue of the C. elegans menorin gene, which is involved in neuronal branching
No retinal phenotype was observed in Fam151a mutant mice, nor was the Fam151b phenotype enhanced in double mutant animals
The early and rapid loss of photoreceptor cells seen in the Fam151bKO/ KO mice may be indicative of an retinal pigmented epithelium (RPE) defect, so we examined two key RPE markers
Summary
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. The International Mouse Phenotyping Consortium (IMPC) is a worldwide collaborative effort to generate lines of mice, each with a loss of function mutation in a single gene, and to comprehensively phenotype the lines[3,4]. Fam151a and b are mammalian homologues of the C.elegans gene menorin (mnr-1)[5] This gene was identified as affected in mutant worms with disrupted dendritic branching in somatosensory neurons; the 90° menorah-like branch pattern observed in control worms was lost in mutants.
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