Ontology highlight
ABSTRACT:
ORGANISM(S): Mus musculus
SUBMITTER: Reiner Schulz
PROVIDER: E-GEOD-46577 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Underkoffler Lara A LA Carr Erikka E Nelson Anthony A Ryan Matthew J MJ Schulz Reiner R Loomes Kathleen M KM
PloS one 20131231 12
Alagille syndrome is an autosomal dominant disorder involving bile duct paucity and cholestasis in addition to cardiac, skeletal, ophthalmologic, renal and vascular manifestations. Mutations in JAG1, encoding a ligand in the Notch signaling pathway, are found in 95% of patients meeting clinical criteria for Alagille syndrome. In order to define the role of Jag1 in the bile duct developmental abnormalities seen in ALGS, we previously created a Jag1 conditional knockout mouse model. Mice heterozyg ...[more]