PMID- 10196361
OWN - NLM
STAT- MEDLINE
DCOM- 19990623
LR  - 20190513
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 8
IP  - 5
DP  - 1999 May
TI  - Embryonic lethality and vascular defects in mice lacking the Notch ligand
      Jagged1.
PG  - 723-30
AB  - The Notch signaling pathway is an evolutionarily conserved intercellular
      signaling mechanism essential for embryonic development in mammals. Mutations in 
      the human JAGGED1 ( JAG1 ) gene, which encodes a ligand for the Notch family of
      transmembrane receptors, cause the autosomal dominant disorder Alagille syndrome.
      We have examined the in vivo role of the mouse Jag1 gene by creating a null
      allele through gene targeting. Mice homozygous for the Jag1 mutation die from
      hemorrhage early during embryogenesis, exhibiting defects in remodeling of the
      embryonic and yolk sac vasculature. We mapped the Jag1 gene to mouse chromosome
      2, in the vicinity of the Coloboma ( Cm ) deletion. Molecular and complementation
      analyses revealed that the Jag1 gene is functionally deleted in the Cm mutant
      allele. Mice heterozygous for the Jag1 null allele exhibit an eye dysmorphology
      similar to that of Cm /+ heterozygotes, but do not exhibit other phenotypes
      characteristic of Cm /+ mice or of humans with Alagille syndrome. These results
      establish the phenotype of Cm /+ mice as a contiguous gene deletion syndrome and 
      demonstrate that Jag1 is essential for remodeling of the embryonic vasculature.
FAU - Xue, Y
AU  - Xue Y
AD  - The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609-1500, USA.
FAU - Gao, X
AU  - Gao X
FAU - Lindsell, C E
AU  - Lindsell CE
FAU - Norton, C R
AU  - Norton CR
FAU - Chang, B
AU  - Chang B
FAU - Hicks, C
AU  - Hicks C
FAU - Gendron-Maguire, M
AU  - Gendron-Maguire M
FAU - Rand, E B
AU  - Rand EB
FAU - Weinmaster, G
AU  - Weinmaster G
FAU - Gridley, T
AU  - Gridley T
LA  - eng
GR  - HD34883/HD/NICHD NIH HHS/United States
GR  - NS31885/NS/NINDS NIH HHS/United States
GR  - NS36437/NS/NINDS NIH HHS/United States
GR  - etc.
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (Calcium-Binding Proteins)
RN  - 0 (Intercellular Signaling Peptides and Proteins)
RN  - 0 (JAG1 protein, human)
RN  - 0 (Jag1 protein, mouse)
RN  - 0 (Jagged-1 Protein)
RN  - 0 (Membrane Proteins)
RN  - 0 (Platelet Endothelial Cell Adhesion Molecule-1)
RN  - 0 (Proteins)
RN  - 0 (Receptors, Notch)
RN  - 0 (Serrate-Jagged Proteins)
SB  - IM
MH  - Animals
MH  - Blood Vessels/*physiopathology
MH  - Calcium-Binding Proteins
MH  - Chromosome Mapping
MH  - Embryo, Mammalian/physiopathology
MH  - Embryonic and Fetal Development/genetics
MH  - Female
MH  - Fetal Death/*genetics
MH  - Gene Deletion
MH  - Heterozygote
MH  - Homozygote
MH  - Intercellular Signaling Peptides and Proteins
MH  - Jagged-1 Protein
MH  - Male
MH  - Membrane Proteins/metabolism
MH  - Mice
MH  - Mice, Inbred C57BL
MH  - Mice, Inbred Strains
MH  - Mice, Mutant Strains
MH  - *Mutation
MH  - Phenotype
MH  - Platelet Endothelial Cell Adhesion Molecule-1/immunology/metabolism
MH  - Proteins/*genetics/metabolism
MH  - Receptors, Notch
MH  - Serrate-Jagged Proteins
EDAT- 1999/04/10 00:00
MHDA- 1999/04/10 00:01
CRDT- 1999/04/10 00:00
PHST- 1999/04/10 00:00 [pubmed]
PHST- 1999/04/10 00:01 [medline]
PHST- 1999/04/10 00:00 [entrez]
AID - ddc089 [pii]
AID - 10.1093/hmg/8.5.723 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1999 May;8(5):723-30. doi: 10.1093/hmg/8.5.723.