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, and eye; weak beta-galactosidase expression is detectable in brain, spinal cord, and retina.
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count