A targeting vector was designed to inactivate the locus by inserting an IRES-betagal-MC1-neo into exon 1. Expression of the betagal would have been under the control of the endogenous promoter, however, no expression was detected. RT-PCR failed to detect wild-type transcripts resulting from exon 1. Protein analysis failed to detect immunoreactivity in mutants. (J:111359)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count