A gene cassette consisting of floxed wild-type human ALK cDNA-intron poly(A) followed by human ALK cDNA with a phenylalanine to leucine substitution at amino acid 1174 (F1174L), IRES, mitovenus cDNA-intron poly(A) and a neomycin resistance gene flanked by FRT sites was inserted into the first exon of the gene. The insertion of the gene cassette deletes 657 nucleotides in exon 1 of the gene (starting from -6 nucleotides upstream of the first ATG) and the deleted sequence encodes the first 217 amino acids including the signal sequence. The neo resistance gene was removed via Flp-mediated recombination. This allele expresses the human wild-type ALK by the endogenous Alk promoter. Cre-mediated recombination can be used to express the mutant protein. (J:294092)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count