A point mutation (A to G) in exon 11 results in the amino acid susbtitution of threonine with alanine at position 699 (p.T699A) in the encoded protein. This mutation creates a PP1 analog-sensitive protein. Cre-mediated recombination removed the loxP site flanked neomycin resistance gene cassette inserted into intron 11. (J:197489)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count