Targeted disruption of RDH11 resulted in the replacement of exons 2 and 3 with the neomycin gene. Exon 2 contains the NADPH binding site. Any resulting transcript from exon 1 would be 22 amino acids long. Alternative splicing from this exon to any of exons 4-7 would cause a frameshift resulting in a premature stop codon. Immunoblotting demonstrated the loss of protein from mutant testes. Transcript was not found in mutant liver tissue. (J:97788)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count