This spontaneous mutation arose at The Jackson Laboratory. A T-to-C point mutation at coding nucleotide 965 of the cDNA (NM_010666) results in a leucine to proline substitution at position 322 of the encoded protein (p.L322P). (J:222308)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count