Photoreceptor degeneration and rd1 mutation in the grizzled/mocha mouse strain.
The mocha mouse is a spontaneous mutant carrying a defective adaptor-like protein complex AP-3delta subunit. We examined retinal function and histology of the mocha mutant. We found that not only mocha homozygotes but also other littermates in the inbred strain are blind due to severe defects in both rod and cone photoreceptors on electroretinogram recordings. The functional deficit was caused by rapid, early postnatal photoreceptor degeneration. Genotyping confirmed the presence of a viral insertion of rd1 gene in the mocha strain. We conclude that rd1 allele contamination is primarily responsible for photoreceptor degeneration, and caution against behavioral tests with visual cues in the present stocks.
Qiao
Xiaoxi
X
Department of Cellular Biology and Anatomy, LSU Health Sciences Center, 1501 Kings Highway, P.O. Box 33932, Shreveport, LA 71130-3932, USA. xqiao@lsuhsc.edu
Pennesi
Mark
M
Seong
Eunju
E
Gao
Hua
H
Burmeister
Margit
M
Wu
Samuel M
SM
D000483:Alleles; D000818:Animals; D001766:Blindness / Q000235:genetics; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; D004596:Electroretinography; D005838:Genotype; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D009154:Mutation; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D020419:Photoreceptor Cells, Vertebrate / Q000502:physiology*; D016133:Polymerase Chain Reaction / Q000379:methods; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology
D010727:Phosphoric Diester Hydrolases; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C517438:Pde6b protein, mouse