This mutation occurred spontaneously in a colony at The Jackson Laboratory in October, 1999. It was shown to be a remutation at Clcn1 by its failure to complement Clcn1adr-mto2J in a complementation test.
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count