Article
Insights into the etiology and physiopathology of MODY5/HNF1B pancreatic phenotype with a mouse model of the human disease.
The Journal of pathology - 1 May 2021
Quilichini Evans, Fabre Mélanie, Nord Christoffer, Dirami Thassadite, Le Marec Axelle, Cereghini Silvia, Pasek Raymond C, Gannon Maureen, Ahlgren Ulf, Haumaitre Cécile
Abstract excerpt
Maturity-onset diabetes of the young type 5 (MODY5) is due to heterozygous mutations or deletion of HNF1B. No mouse models are currently available to recapitulate the human MODY5 disease. Here, we investigate the pancreatic phenotype of a unique MODY5 mouse model generated by heterozygous insertion of a human HNF1B splicing mutation at the intron-2 splice donor site in the mouse genome. This Hnf1bsp2/+ model...
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