Retinal degeneration 19 provides a mouse model for autosomal recessive retinitis pigmentosa 41 (arRP41), with the same early onset photoreceptor loss progressing to severe loss in the adult.Read More +
Mice homozygous for the retinal degeneration 19 mutation exhibit areas of depigmentation and attenuated retinal vessels by 2 months of age, 20-30% photoreceptor loss by 3 weeks of age, and slow progressive loss thereafter. At one month of age electroretinograms show decreased alpha waves, nearly normal beta waves, and nearly normal cone responses, but at six months of age neither cone nor rod waveforms are detectable. This mutation provides a model for human retinitis pigmentosa 41, which causes night blindness and loss of peripheral vision in childhood and progresses to profound visual impairment in young adults.
The retinal degeneration 19 spontaneous mutation was identified in the BXD83/RwwJ strain (Stock No. 007126) by Dr. Bo Chang. This mutation was backcrossed onto C57BL/6J for 5 generations then sibling intercrossed to homozygosity. In 2014 this strain reached generation N5F8.
|Allele Name||retinal degeneration 19|
|Allele Type||Spontaneous (Null/Knockout)|
|Gene Symbol and Name||Prom1, prominin 1|
|Strain of Origin||BXD83/RwwJ|
|Molecular Note||A single A-to-T transversion (on the negative gene strand; lower case in ATCAAACAGACCaAGGATGCCCTGCAGAAC) changes amino acid 268 from lysine to a stop codon (p.K268*).|