Mice exhibit a spontaneous deletion of 22 bp in a highly conserved region upstream of the gene in a major lens regulatory element. RT-PCR analysis of eye extracts confirmed reduced transcript expression. (J:177496)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count