ENU mutagenesis induced a point mutation (G to A) at the 3' end of exon 13 within the splice donor sequence that results in the aberrant joining of exon 12 to exon 14, a frame shift mutation and a premature stop codon 9 amino acids into the exon 14 sequence. This allele is hypomorphic. (J:204468)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count