A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency.

@article{Mccright2002AMM,
  title={A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency.},
  author={Brent Mccright and Julie Lozier and Thomas Gridley},
  journal={Development},
  year={2002},
  volume={129 4},
  pages={1075-82}
}
Alagille syndrome is a human autosomal dominant developmental disorder characterized by liver, heart, eye, skeletal, craniofacial and kidney abnormalities. Alagille syndrome is caused by mutations in the Jagged 1 (JAG1) gene, which encodes a ligand for Notch family receptors. The majority of JAG1 mutations seen in Alagille syndrome patients are null alleles, suggesting JAG1 haploinsufficiency as a primary cause of this disorder. Mice homozygous for a Jag1 null mutation die during embryogenesis… CONTINUE READING
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