A neomycin resistance gene was inserted into intron 2. Analysis of retinal mRNA indicated that transcript levels were severely reduced. Immunofloresence indicated a lower abundance of protein in the inner segment of photoreceptors of mutants. Quantification on immunoblots demonstrated that this is allele is a strong hypomorph, with the level of protein in mutants decreased to 20-25% of that for wild-type animals. (J:92601)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count