A targeting construct was used to insert a Q636R mutation in the locus as well as a PGK-TK cassette and a floxed neo cassette later removed via cre-mediated recombination. (J:57983)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count