A G to A transition at the -1 position of the spice acceptor site at the intron 1 - exon 2 junction is predicted to result in the abolition of this acceptor site. As a result, PCR suggests two splice variants in the homozygous mutant: one using a cryptic acceptor site in intron 1 and then the canonical donor site of exon 2 (resulting in novel amino-acids and a premature stop codon) and one skipping exon 2 (with the coding region remaining in-frame). No complementation was seen among offspring in crosses between heterozygotes of this allele and homozygotes of head tilt or head tilt 2 Jackson. (J:89010, J:169054)
Basic Information
129S1/Sv-Oca2+ Tyr+ Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count