rd5 was found in C57BL/6J-tub, now a subline of C57BL/6J wherein a mutation to tubby (tub) occurred in 1977. The retinal degeneration aspects of tub homozygotes have been presented as a mutant gene, rd5, but tub and rd5 may be the same gene.
The involvement of tub in obesity, retinal degeneration and hearing loss suggests it as a model for the Alstrom (OMIM 203800) or Bardet-Biedl (OMIM 209900) syndromes.
Gene | Mouse Chromosome | Human Chromosome | Retinal ONL disappear by | Strains |
|---|---|---|---|---|
rd5(tub) | 7 | 11p15 | 8 | c57BL/6J- tub |