This phenotypic mutant was identified in an ENU mutagenesis screen at Harwell. A single T to A transversion is found in exon 44 at position 7164. This converts a tyrosine codon to a nonsense codon at position 2388 in the protein. (J:112274)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count