The mutation underlying the phenotype in Leca4 mice was identified as a C to A substitution at nucleotide position 354 of the Pax6 gene. The mutation occurs in exon 6 and introduces the Asn64Lys change in the Paired box 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