Jagged1 heterozygosity in mice results in a congenital cholangiopathy which is reversed by concomitant deletion of one copy of Poglut1 (Rumi)
Shakeel M. Thakurdas, Mario F. Lopez, Shinako Kakuda, Rodrigo Fernandez‐Valdivia, Neda Zarrin‐Khameh, Robert S. Haltiwanger, Hamed Jafar‐Nejad – 1 August 2015 – Haploinsufficiency for the Notch ligand JAG1 in humans results in an autosomal‐dominant, multisystem disorder known as Alagille syndrome, which is characterized by a congenital cholangiopathy of variable severity.