Article
Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa.
Neuron - 1 Nov 1992
Olsson J E, Gordon J W, Pawlyk B S, Roof D, Hayes A, Molday R S, Mukai S, Cowley G S, Berson E L, Dryja T P
Abstract excerpt
We inserted into the germline of mice either a mutant or wild-type allele from a patient with retinitis pigmentosa and a missense mutation (P23H) in the rhodopsin gene. All three lines of transgenic mice with the mutant allele developed photoreceptor degeneration; the one with the least severe retinal photoreceptor degeneration had the lowest transgene expression, which was one-sixth the level of endogenous...
Topics
- Animals
- Codon
- Disease Models, Animal
- Electroretinography
- Fundus Oculi
- Humans
- Mice
- Mice, Transgenic
- Microscopy, Electron
- Mutation
- Ophthalmoscopy