Induction of the Hajdu-Cheney Syndrome Mutation in CD19 B Cells in Mice Alters B-Cell Allocation but Not Skeletal Homeostasis.

ABSTRACT: Mice harboring Notch2 mutations replicating Hajdu-Cheney syndrome (Notch2^tm1.1ECan) have osteopenia and exhibit an increase in splenic marginal zone B cells with a decrease in follicular B cells. Whether the altered B-cell allocation is responsible for the osteopenia of Notch2^tm1.1ECan mutants is unknown. To determine the effect of NOTCH2 activation in B cells on splenic B-cell allocation and skeletal phenotype, a conditional-by-inversion (COIN) Hajdu-Cheney syndrome allele of Notch2 (Notch2^[ΔPEST]COIN) was used. Cre recombination generates a permanent Notch2^ΔPEST allele expressing a transcript for which sequences coding for the proline, glutamic acid, serine, and threonine-rich (PEST) domain are replaced by a stop codon. CD19-Cre drivers were ba

SUBMITTER: Yu J 

PROVIDER: S-EPMC5971225 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature