A G to A point mutation was introduced in exon 2 to create a cysteine to tyrosine substitution at residue 213 (p.C213Y) in the encoded protein. In addition a loxP/FRT flanked neomycin cassette was inserted 882 bp 3' to a second silent mutation (G to A) in exon 2 to introduce a restriction site for genotyping. Flp-mediated recombination removed the Neo cassette. Levels of mutant transcript in homozygotes are similar to wild-type levels, however retinas have only approximately 10% of wild-type levels of protein. (J:292411)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count