Development and degeneration of retina in rds mutant mice: observations in chimaeras of heterozygous mutant and normal genotype. 1986

S Sanyal, and C Dees, and G H Zeilmaker
Department of Anatomy, Faculty of Medicine, Erasmus University, Rotterdam, The Netherlands.

In homozygous rds mutant mice the photoreceptor cells lack outer segment discs and slowly degenerate. In the heterozygotes the receptor cells develop abnormal outer segments and show altered disc shedding properties as revealed by the pigment epithelial phagosome content. The receptor cells also degenerate at a slower rate than in the homozygotes. The nature of the interaction resulting in dilution of the retinal lesion in the heterozygous retina was analysed in a series of chimaeras consisting of rds/+ and +/+ genotypes, which also differed in colour genes. In 64% of the chimaeras (18 out of 28) presence of both rds/+ and +/+ types of photoreceptors could be detected by electron microscopy. The relative proportion and patch size of the two components varied greatly between individuals but the location of the two types of photoreceptors was not related to the genotypes of the overlying pigment epithelial cells. Frequent occurrence of abnormally large phagosomes, resembling the rds/+ phenotype, was noted regularly in both rds/+ and +/+ types of pigment epithelial cells located above rds/+ types of receptors, but not in the cells of either genotype located above normal receptors. In the eyes examined at 12-18 months, localized and partial depletion of the perikaryal population in the outer nuclear layer was observed, and the location of such areas was also unrelated to the genotypes of the pigment epithelial cells. These findings confirm that the rds gene acts within the neural retina and possibly within the receptor cells and further show that the genetic interaction between the rds gene and its normal allele in the retina of the heterozygous mice takes place within the receptor cells.

UI MeSH Term Description Entries
D008817 Mice, Mutant Strains Mice bearing mutant genes which are phenotypically expressed in the animals. Mouse, Mutant Strain,Mutant Mouse Strain,Mutant Strain of Mouse,Mutant Strains of Mice,Mice Mutant Strain,Mice Mutant Strains,Mouse Mutant Strain,Mouse Mutant Strains,Mouse Strain, Mutant,Mouse Strains, Mutant,Mutant Mouse Strains,Mutant Strain Mouse,Mutant Strains Mice,Strain Mouse, Mutant,Strain, Mutant Mouse,Strains Mice, Mutant,Strains, Mutant Mouse
D008854 Microscopy, Electron Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen. Electron Microscopy
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010786 Photoreceptor Cells Specialized cells that detect and transduce light. They are classified into two types based on their light reception structure, the ciliary photoreceptors and the rhabdomeric photoreceptors with MICROVILLI. Ciliary photoreceptor cells use OPSINS that activate a PHOSPHODIESTERASE phosphodiesterase cascade. Rhabdomeric photoreceptor cells use opsins that activate a PHOSPHOLIPASE C cascade. Ciliary Photoreceptor Cells,Ciliary Photoreceptors,Rhabdomeric Photoreceptor Cells,Rhabdomeric Photoreceptors,Cell, Ciliary Photoreceptor,Cell, Photoreceptor,Cell, Rhabdomeric Photoreceptor,Cells, Ciliary Photoreceptor,Cells, Photoreceptor,Cells, Rhabdomeric Photoreceptor,Ciliary Photoreceptor,Ciliary Photoreceptor Cell,Photoreceptor Cell,Photoreceptor Cell, Ciliary,Photoreceptor Cell, Rhabdomeric,Photoreceptor Cells, Ciliary,Photoreceptor Cells, Rhabdomeric,Photoreceptor, Ciliary,Photoreceptor, Rhabdomeric,Photoreceptors, Ciliary,Photoreceptors, Rhabdomeric,Rhabdomeric Photoreceptor,Rhabdomeric Photoreceptor Cell
D012160 Retina The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. Ora Serrata
D012162 Retinal Degeneration A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304) Degeneration, Retinal,Degenerations, Retinal,Retinal Degenerations
D002678 Chimera An individual that contains cell populations derived from different zygotes. Hybrids,Chimeras,Hybrid
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia

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