This phenotypic mutant was identified in an ENU mutagenesis screen. A cytosine to adenine transition at nucleotide 518 causes a N46K amino acid substitution. A complement test confirmed the gene association. (J:78134, J:112871)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count