Sequence analysis of the Lepr gene in the hyperinsulinemic KK mouse strain identified a conservative amino acid substitution; Asp(600)Asn in a highly conserved area of the protein. Data suggests that the variant contributes to the obesity phenotype seen in mice, but that the contribution is only part of a multigenic syndrome. (J:53637)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count