Exon 11 was replaced with one in which a point mutation (T to C) results in the amino acid substitution of arginine for tryptophan at position 464 (W464R). This mutation abolishes calcium-calmodulin binding. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of the modified exon 11. (J:201701)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count