Insights into the etiology and physiopathology of MODY5/HNF1B pancreatic phenotype with a mouse model of the human disease.
J Pathol
; 254(1): 31-45, 2021 05.
Article
en En
| MEDLINE
| ID: mdl-33527355
ABSTRACT
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 generated with targeted mutation of Hnf1b mimicking the c.544+1G>T (Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Páncreas
/
Enfermedades del Sistema Nervioso Central
/
Esmalte Dental
/
Diabetes Mellitus Tipo 2
/
Modelos Animales de Enfermedad
/
Enfermedades Renales Quísticas
/
Factor Nuclear 1-beta del Hepatocito
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Animals
/
Humans
Idioma:
En
Revista:
J Pathol
Año:
2021
Tipo del documento:
Article
País de afiliación:
Francia