This is an allele characteristic of various inbred mouse strains including the following: A/HeJ, AKR/J, DBA/2J, NZB/B1NJ, SWR/J, B10.D2/oSnJ

Hc was identified as a candidate gene for Abhr2 in a microarray analysis of lung mRNA from A/J, C3H/HeJ, and (A/J x C3H/HeJ)F1 x A/J backcross animals. Hc genotype shows statistically significant correlation to allergen-induced bronchial hyperresponsive phenotype. The A/J allele contains a 2 bp deletion resulting in deficient Hc mRNA and protein production and is associated with susceptibility to allergen-induced bronchial hyperresponsiveness. (J:108211)

Homozygotes are fully viable and fertile.Eyes develop normally up to 7 to 10 days after birth. At this stage the outer segment of the rod cell has begun to form, and in wild type mice it elongates rapidly during the 10th to 15th days. In Pde6b^rd1/Pde6b^rd1 mice the nascent outer segments and the rod cells degenerate rapidly so that by 15 days there is only a thin layer of rod cells left, and they have disappeared completely by 35 days (J:5250, J:5708). The inner nuclear layer and the retinal ganglion cells appear normal butmay show slight quantitative reduction (J:5812, J:5292).

Although the eyes of Pde6b^rd1 homozygotes are devoid of normal rods, the mice have some visual capacity (J:5980). About 3% of cones among the visual cells degenerate at a much slower rate than do rods, so that a few cones are still present at 18 months (J:5988). The surviving cones are postulated (J:25157) as the light receptors required for the persistence of circadian responses to dawn and dusk in Pde6b^rd1 homozygotes past the sstage when rods have disappeared (J:29236).

In fusion chimeras between wild type and Pde6b^rd1 homozygous embryos, the Pde6b^rd1 mutant acts in the photoreceptor cells rather than in the pigment epithelium of the retina (J:5708). Action within photoreceptor cells is also implied by the long term survival of wild type rod cells transplanted into Pde6b^rd1 homozygote retinas (J:20769). At a stage before degeneration can be seen, a deficiency of cGMP-PDE, andan excess of cGMP, appears in rod photoreceptor cells (J:5332).

The rate of retinal degeneration in mutants doubly homozygous for two retinal degeneration mutations (Pde6b^rd1 and Rds^Rd2) is intermediate between those of the two homozygotes (J:12044). The double homozygote shows an intermediate level of mRNAs for the ß subunit of cGMP-PDE and for several other phototransduction related proteins, suggesting an interaction between Pde6b^rd1 and Rds^Rd2 (J:2579).

Genbank ID for mutant sequence: M75166

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX^® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
Genomic DNA is available for this strain from the Mouse DNA Resource.