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Article

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

Development (Cambridge, England) - 1 Feb 2002

McCright Brent, Lozier Julie, Gridley Thomas

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11861489
DOI: 10.1242/dev.129.4.1075

Genes

JAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency.PMID 11861489Read ↗

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Jagged-mediated development and disease: Mechanistic insights and therapeutic implications for Alagille syndromeSemantic proximity Read ↗

Liver‐specific inactivation of Notch2, but not Notch1, compromises intrahepatic bile duct development in mice†‡Semantic proximity Read ↗

Bile duct proliferation in liver-specific Jag1 conditional knockout mice: effects of gene dosage.Semantic proximity Read ↗

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.Semantic proximity Read ↗

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Jagged1 heterozygosity in mice results in a congenital cholangiopathy which is reversed by concomitant deletion of one copy of Poglut1 (Rumi)Semantic proximity Read ↗

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