ENU mutagenesis led to a G-to-A point mutation in the splicing donor site of the third exon of the gene locus. This mutation resulted in skipping of exon 3 during transcription and production of a internally truncated transcript that potentially encodes a polypeptide that lacks sequence from aspartic acid-49 to lysine-75. RT-PCR confirmed the presence of a truncated mRNA. This is considered a hypomorph allele. (J:136470)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count