A bacterial lacZ gene was inserted into the gene such that the endogenous gene promoter drives expression of beta-galactosidase. RT-PCR analysis detects a gene transcript in brain, spinal cord, eye, kidney, pituitary gland and uterus; beta-galactosidase expression is detectable in brain, eyes, kidney, urinary bladder and testis.
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count