Cnga1^m1Mhda

The mutation comprises an A to G change at nucleotide position 1526 (c.1526A>G), resulting in a tyrosine to cystine substitution at amino acid 509 (p.Y509C). Although this mutation does not affect the same glycine reside as the c.1525G>A mutation found in patients with retinitis pigmentosa (p.G509R), it affects a tyrosine residue just four amino acids downstream from Gly509 and is thought to mimic the human p.G509R substitution. Homozygous mice show normal transcript levels but almost complete lack of protein in Western blot and immunohistochemistry. (J:333119)