Sequence from the human ortholog (consisting of the 1 kb 3' UTR from haplotype B which has the C allele of SNP rs1054204, the consensus polyA site and a G-T rich region), preceded by a loxP site flanked neomycin resistance gene cassette, was flanked by 8-10 kb long mouse homology arms. This construct was targeted to the mouse gene and used to replace the endogenous 3' UTR in exon 10 with the human 3' UTR. Subsequent cre-mediated recombination excised the neo cassette. (J:233364)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count