The targeting vector contains from 5' to 3' a loxP site, an FRT-flanked neomycin cassette, a human genomic DNA BAC encoding STXBP1 gene, an F3-flanked hygromycin, followed by a second loxP site used to replace the endogenous murine sequence from approximately 5.4kb upstream of exon 1 through to near to the end of exon 19 with the human genomic region from approximately 4.0kb upstream of exon 1 (Transcript ENST00000373299.5) through to the end of the final exon of human transcript ENST00000636962.2. This humanized region may also express the short 35 residue isoform of PTRH1 (Uniprot: A0A286YER0) on chromosome 2. The insertion results in a knock-out of Stxbp1. Flp-mediated recombination removed the neo and hygro cassettes. (J:94077)
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