This phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. A C-to-T transition mutation in the fourth exon results in the introduction of a premature stop codon. Western blot analysis showed that no detectable protein was expressed from this allele. (J:114758)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count