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 the brain spinal cord, eye, heart, skin, tongue and testis; beta-galactosidase expression is detectable in the brain spinal cord, and eye but not in the heart, skin, tongue or testis.
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count