The mutation underlying the phenotype in Leca1 mice was identified as a T to A substitution at nucleotide position 971 of the Pax6 gene. The mutation occurs in exon 10 and introduces the Val270Glu change in the homeobox domain of the protein. (J:75964)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count