Retinal Degeneration in Common Mouse Strains, Transgenics and Knockouts

     The rd8 mutation in the Crb1 gene is present in the C57BL/6N inbred line which is used to generate embryonic stem cells (Mattapallil.pdf). This mutation causes significant vision impairment.

     The retinal degeneration 1 mutation (Pde6b^rd1, phophodiesterase 6B, cGMP, rod receptor, beta polypeptide) is present in a number of common inbred strains of mice, including some of those used to make transgenic mice (B6SJLF1/J, B6CBAF1/J and FVB/NJ). Pde6b^rd1 is recessive and causes blindness by weaning. The hybrid mice (B6SJLF1/J and B6CBAF1/J) segregate Pde6b^rd1 contributed by SJL or CBA. Unless a transgene integrates close to Pde6b, both blind and sighted transgenic progeny may be produced when B6SJLF1/J and B6CBAF1/J are used. PCR-based genotyping assays for Pde6b^rd1 have been published (Lab Animal 2001 35:153-156; PNAS 1991 88: 8322-8326). Thus, if you wish to maintain your mice on a strain that segregates Pde6b^rd1 and blindness could affect your results, you can identify sighted and blind transgenics by PCR. Alternatively, the transgenics can be bred to a strain that doesn't carry Pde6b^rd1. We also create transgenics on strains which don't carry Pde6b^rd1 (C57BL/6J). A list of strains homozygous for mutant Pde6b^rd1 is given below.