lbab is a spontaneous mutation identified at The Jackson Laboratory. A C-to-G transversion mutation in exon 2 results in the substitution of arginine with glycine at position 117 (p.R117G) in a conserved domain of the encoded protein. (J:122924)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count