Sequencing of the Rpe65 gene of C57BL/6-Tyrc-2J/J revealed a cytosine to adenosine polymorphism in codon 450, resulting in a leucine to methionine substitution (L450M). Later studies show that this variant is presnt in all C57BL/6J mice. (J:62583, J:86186)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count