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Image Search Results
Journal: bioRxiv
Article Title: Interferon receptor gene dosage determines diverse hallmarks of Down syndrome
doi: 10.1101/2022.02.03.478982
Figure Lengend Snippet: (A) Schematic of the murine interferon receptor ( Ifnr) gene locus and CRIPSR/Cas9 guide RNAs (gRNAs, red arrowheads) used for the deletion of a 192 kb genomic region of chromosome 16 (MMU16). Forward and reverse genotyping primers (FW and REV, black arrowheads) are indicated. Molecular location of genes based on GRCm38 reference genome is indicated on an ideogram of MMU16 cytogenetic regions colored according to Giemsa banding. (B) PCR of DNA from the founder (F0) mouse bearing the expected deletion (+) and negative controls [-; wildtype (WT) and Water (no DNA)]. (C) Representative Sanger sequencing of the single modified allele transmitted from the F0 male to the first generation of progeny (F1) after intercrossing with a WT female. (D) Whole genome sequencing followed by copy number variant analysis from the F0 mouse bearing a deletion of the Ifnr locus syntenic to human chromosome 21 (WT 1xIFNRs ) with the site of deletion on MMU16 denoted by arrow (left image) that is absent when two non-related C57BL/6N WT mice are compared (right image). *p<0.1 by CNV-seq. (E) Diagram of breeding strategy to reduce copy number of just four Ifnr genes (yellow line) triplicated in the Dp16 mouse model of Down syndrome by intercrossing Dp16 males with WT 1xIFNRs females. Littermate progeny can then be compared between Dp16, Dp16 normalized for just Ifnr dose (Dp16 2xIFNRs ), and WT controls.
Article Snippet: Briefly, genomic DNA was prepared from 1-2 mm of toe, tail or ear tissue using the HotSHOT method ( ) then run through PCR according to Data S4, Tabs B-C or outsourced for automated
Techniques: Sequencing, Modification, Variant Assay