This small eye mutation was identified in offspring of ENU treated mice. A 141 bp insert was found in the mRNA between exons 7 and 8 as a result of a G to A transition at position 1171 in intron 7 4 bp downstream of a new splice site. Thirty new amino acids followed by 3 stop codons are encoded. The paired box domain remains intact but the homeodomain is lost in the resulting protein. (J:196657)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count