The targeting construct inserted a floxed IRES-beta-geo fusion cassette, floxed exons 2, a partial cDNA starting from exon 3 to the end of the polyadenylation signal sequence encoding the amino acid substitution of aspartic acid with arginine at position 319 (D319N), and a neomycin resistance cassette. After removing the gene trap cassette by the cre recombinase, the allele expresses a modified protein product with the amino acid substitution. (J:104881)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count