Article
Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness.
Human mutation - 1 Mar 2007
Tsang Stephen H, Woodruff Michael L, Jun Lin, Mahajan Vinit, Yamashita Clyde K, Pedersen Robert, Lin Chyuan-Sheng, Goff Stephen P, Rosenberg Thomas, Larsen Michael, Farber Debora B, Nusinowitz Steven
Abstract excerpt
Mutations in the beta-subunit of cGMP-phosphodiesterase (PDE6beta) can lead to either progressive retinal disease, such as human retinitis pigmentosa (RP), or stationary disease, such as congenital stationary night blindness (CSNB). Individuals with CSNB in the Rambusch pedigree were found to carry the H258N allele of PDE6B (MIM# 180072); a similar mutation was not found in RP patients. This report describes an...
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