Pdgfrb^redeye

A T to C mutation was identified at position +2 of intron 6. This results in retention of intron 6 in the transcript and 23 novel amino acids followed by a premature stop codon. RT-PCR analysis showed that homozygous mutant eyes contain only ~25% of wild-type mRNA levels. Immunoblot analysis confirmed decreased protein level in mutant retinae and kidneys, indicating that this is a hypomorphic allele. (J:199483)