This phenotypic mutant was identified in an ENU mutagenesis screen. The molecular lesion was identified as a T-to-C transition mutation at the 5' splice donor site for exon 10. RT-PCR analysis indicates that an aberrant transcript is expressed that splices exon 9 to exon 11. (J:136078)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count