The targeting construct contained a cDNA sequence containing sequences of wild-type (WT) mouse exons 1821, with a downstream phosphoglycerine kinase (PGK) promoter driving a neomycin (Neo) selection marker. The sequence was flanked by locus of loxP sites and followed by the human exon 18, containing the 4-repeat allele of the human variable-number tandem-repeat (VNTR). Cre mediated recombination removed the cDNA encoding sequences contained in exons 1821, allowing the expression of humanized exon 18 with the 4-repeat copy of the human variable-number tandem-repeat (VNTR) and endogenous mouse exons 19-21. (J:222843)
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