The mutation underlying the phenotype in Leca2 mice was identified as a C to T substitution at nucleotide position 586 of the Pax6 gene. The mutation occurs in exon 7 and introduces the Arg142Cys 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