The mutation underlying the phenotype of the Qkkt4 mouse has been attributed to an A to G transition, resulting in a missense mutation. This results in a glutamic acid to glycine change in the QUA1 domain of the encoded protein. (J:55007)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count