The targeting construct inserted the mutation responsible for the amino acid substitution of aspartic acid with asparagine at position 95 (D95N). Cre-mediated recombination removed the floxed neomycin resistance cassette inserted in intron 3. (J:329922)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count