Exon 7 was replaced with a floxed neomycin resistance cassette and exon 7 mutated to produced the nucleotide substitution of asparagine with lysine at position 256 (N256K). The floxed neomycin resistance cassette prevents expression of either endogenous or mutated allele. (J:300042)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count