The mouse promoter drives rod and cone-specific expression of the bovine cDNA containing a mutation that results in an amino acid substitution of cysteine for tyrosine at position 99 (Y99C). This mutation is found in human patients with late-onset retinal dystrophy. Several lines were created (L52, L52H, L53, L36, L39, L128, and L52X). Line L53 exhibit a 3- to 4-fold in expression compared to endogenous levels. (J:157063)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count