Exon 4 was replaced with a floxed neo cassette and a modified exon 4, which contained an A to G transition that results in the amino acid substitution of glycine for glutamic acid at position 155 (E155G), mimicking a mutation found in some cone dystrophy 3 (COD3) patients. Cre-mediated recombination removed the neo cassette. (J:171667)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count