Identified in an ENU screen and mapped to a 4 Mb interval on Chromosome 8 containing Casp3. A mutation two bases upstream of exon 3 results in splicing errors causing exon 3 splicing to be 4 nucleotides into the wild type exon or loss of exon 3 altogether. Both forms result in premature stop codons. (J:174027)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count