A 6 bp deletion in exon 3 is causative for the cataract phenotype in this mouse. The deletion leads to the loss of two amino acids, Gly and Arg, in the fourth Greek-key motif. (J:73804)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count