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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Jag1tm1Grid
targeted mutation 1, Tom Gridley
MGI:1857713
Summary 11 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Jag1tm1Grid/Jag1tm1Grid involves: 129S1/Sv * C57BL/6 * FVB MGI:2384052
ht2
Jag1tm1Grid/Jag1+ involves: 129S1/Sv * C57BL/6 * FVB MGI:2384058
cn3
Jag1tm1Grid/Jag1tm2Grid
Foxg1tm1(cre)Skm/Foxg1+
involves: 129P2/OlaHsd * 129S1/Sv MGI:3693201
cn4
Jag1tm1Grid/Jag1tm1.1Loo
Tg(Alb1-cre)1Khk/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:3848171
cn5
Jag1tm1Jlew/Jag1tm1Grid
Tg(Pdgfb-icre/ERT2)1Frut/0
involves: 129S1/Sv * C57BL/6 * CBA MGI:4437857
cn6
Jag1tm1Grid/Jag1tm2Grid
Tg(Tagln-cre)1Her/0
involves: 129S1/Sv * C57BL/6 * SJL MGI:4867007
cx7
Jag1tm1Grid/Jag1+
Notch2tm3.1Grid/Notch2+
B6.129S1-Jag1tm1Grid Notch2tm3.1Grid MGI:5004909
cx8
Jag1tm1Grid/Jag1+
Poglut1Gt(IST10323G11)Tigm/Poglut1+
B6.Cg-Jag1tm1Grid Poglut1Gt(IST10323G11)Tigm MGI:5004906
cx9
Jag1tm1Grid/Cm involves: 101/H * 129S1/Sv * C3H/He * C57BL/6 * FVB/N MGI:3588033
cx10
Jag1tm1Grid/Jag1+
Notch2tm1Grid/Notch2+
involves: 129S1/Sv MGI:3778810
cx11
Jag1tm1Grid/Jag1+
Notch2tm1Grid/Notch2+
involves: 129S1/Sv * C57BL/6J MGI:2384061


Genotype
MGI:2384052
hm1
Allelic
Composition
Jag1tm1Grid/Jag1tm1Grid
Genetic
Background
involves: 129S1/Sv * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1tm1Grid mutation (1 available); any Jag1 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• death occurs at approximately E10.5 due to widespread hemorrhages
• normal appearance at E9.5, and widespread necrosis is observed at E11.5
• no defects in somitogenesis are observed

embryo
• a pale yolk sac is seen at E10.5
• large blood vessels are absent from the yolk sacs

cardiovascular system
• the vascular network in the forebrain of mutant embryos is not as well developed as in controls
• large blood vessels of the head have an abnormal appearance and a reduced diameter
• the primary vascular plexus of the yolk sac does not remodel into large blood vessels
• widespread, including embryonic and extraembryonic tissues observed at E10.5




Genotype
MGI:2384058
ht2
Allelic
Composition
Jag1tm1Grid/Jag1+
Genetic
Background
involves: 129S1/Sv * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1tm1Grid mutation (1 available); any Jag1 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• Background Sensitivity: eye phenotypes are described as fully penetrant on an 80% C57BL/6 genetic background and incompletely penetrant on a mixed background
• iris coloboma

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Alagille Syndrome 1; ALGS1 118450 J:54907




Genotype
MGI:3693201
cn3
Allelic
Composition
Jag1tm1Grid/Jag1tm2Grid
Foxg1tm1(cre)Skm/Foxg1+
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxg1tm1(cre)Skm mutation (2 available); any Foxg1 mutation (12 available)
Jag1tm1Grid mutation (1 available); any Jag1 mutation (35 available)
Jag1tm2Grid mutation (1 available); any Jag1 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants survive through E18.5

hearing/vestibular/ear
N
• at E15.5, inner ear structures not associated with sensory formation such as endolymphatic duct and sac, and crus are not affected
• formation of prosensory domain is disrupted by E18.5
• severe hair cell patterning defects are observed at E18.5
• no clear formation of rows or distinction between inner and outer hair cells is observed in midbasal regions of the organ of Corti; hair cells form in patches
• at E16.5, patterns look similar to those at E18.5 with patches of hair cells in midbasal regions and absent hair cells in very basal regions
• in middle portion of cochlea, patterning of inner and sparse outer hair cells is abnormal
• in apical turn of cochlea, there are only two rows instead of four rows of hair cells
• no hair cell formation is observed in basal turns of cochlea; at E18.5, hair cells and supporting cells are absent in very basal region of cochlea
• no outer hair cells or supporting Deiter's cells are present in apex of cochlea
• at E18.5, tunnel of Corti is not apparent
• semicircular canals are mostly absent, with only a small portion of lateral semicircular canal present at E15.5
• cristae and ampullae are missing or severely disrupted by E14.5 in homozygotes
• at E15.5, only a small portion of the anterior canal is present in homozygotes
• at E15.5, semicircular canals are largely absent
• structure is extremely small, with few differentiating hair cells; severe disruption of differentiation of utricular macula is observed
• observed at E13.5
• at E13.5, saccule appears misshapen
• at E18.5, saccule and macula are relatively normal, but entire saccular structure is shaped differently compared to controls

nervous system
• severe hair cell patterning defects are observed at E18.5
• no clear formation of rows or distinction between inner and outer hair cells is observed in midbasal regions of the organ of Corti; hair cells form in patches
• at E16.5, patterns look similar to those at E18.5 with patches of hair cells in midbasal regions and absent hair cells in very basal regions
• in middle portion of cochlea, patterning of inner and sparse outer hair cells is abnormal
• in apical turn of cochlea, there are only two rows instead of four rows of hair cells
• no hair cell formation is observed in basal turns of cochlea; at E18.5, hair cells and supporting cells are absent in very basal region of cochlea
• no outer hair cells or supporting Deiter's cells are present in apex of cochlea




Genotype
MGI:3848171
cn4
Allelic
Composition
Jag1tm1Grid/Jag1tm1.1Loo
Tg(Alb1-cre)1Khk/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1tm1.1Loo mutation (0 available); any Jag1 mutation (35 available)
Jag1tm1Grid mutation (1 available); any Jag1 mutation (35 available)
Tg(Alb1-cre)1Khk mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
• diffuse bile duct proliferation is observed around small and large bile ducts by 4 weeks of age
• by 12 weeks of age, 50% of mice have bile duct proliferation with these ducts appearring small and slit-like
• at 8 weeks of age, some mice have dilated bile tracts and expanded portal tracts
• cytokeratin staining also shows irregular, dilated ducts surrounding the periphery of many portal tracts
• bile stasis is identified within the lumina of several proliferating ducts

endocrine/exocrine glands
• diffuse bile duct proliferation is observed around small and large bile ducts by 4 weeks of age
• by 12 weeks of age, 50% of mice have bile duct proliferation with these ducts appearring small and slit-like
• at 8 weeks of age, some mice have dilated bile tracts and expanded portal tracts
• cytokeratin staining also shows irregular, dilated ducts surrounding the periphery of many portal tracts




Genotype
MGI:4437857
cn5
Allelic
Composition
Jag1tm1Jlew/Jag1tm1Grid
Tg(Pdgfb-icre/ERT2)1Frut/0
Genetic
Background
involves: 129S1/Sv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1tm1Grid mutation (1 available); any Jag1 mutation (35 available)
Jag1tm1Jlew mutation (0 available); any Jag1 mutation (35 available)
Tg(Pdgfb-icre/ERT2)1Frut mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• with postnatal tamoxifen treatment from P1-P3, pups are generally smaller than tamoxifen-treated control littermates

vision/eye
• perpendicular sprouting and neovascularization of the deeper retina are strongly compromised with tamoxifen treatment between P5 and P9

cardiovascular system
N
• stability of blood vessels is not affected in mutants with tamoxifen treatment at P1; stability of established vessels in the superficial capillary plexus is not affected with tamoxifen administration between P5 and P9
• postnatal tamoxifen treatment from P1-P3 results in decreased coverage of retinal arteries by vascular smooth muscle cells; however pericyte coverage of capillary beds shows no change
• perpendicular sprouting and neovascularization of the deeper retina are strongly compromised with tamoxifen treatment between P5 and P9
• postnatal tamoxifen treatment from P1-P3 to delete Jag1 in endothelial cells results in significant decreases in numbers of filopodia and filopodia-extending endothelial tip cells
• postnatal tamoxifen treatment from P1-P3 results in strong inhibition of angiogenesis in the retina resulting in reduced branching and delayed extension toward the periphery




Genotype
MGI:4867007
cn6
Allelic
Composition
Jag1tm1Grid/Jag1tm2Grid
Tg(Tagln-cre)1Her/0
Genetic
Background
involves: 129S1/Sv * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1tm1Grid mutation (1 available); any Jag1 mutation (35 available)
Jag1tm2Grid mutation (1 available); any Jag1 mutation (35 available)
Tg(Tagln-cre)1Her mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 50% of mutants die by P1
• no mutants survive past P2

cardiovascular system
• 95% of mutants exhibit patent ductus arteriosus
• defects in vascular smooth muscle cell differentiation in the outer layers of the medial wall of the ductus arteriosus and descending aorta at E17.5 when the ductus arteriosus is still patent, however the ascending limb of the aorta and the pulmonary artery trunk have normal vascular smooth muscle cell differentiation

homeostasis/metabolism

muscle
• defects in vascular smooth muscle cell differentiation in the outer layers of the medial wall of the ductus arteriosus and descending aorta at E17.5 when the ductus arteriosus is still patent, however the ascending limb of the aorta and the pulmonary artery trunk have normal vascular smooth muscle cell differentiation

cellular
• 95% of mutants exhibit patent ductus arteriosus




Genotype
MGI:5004909
cx7
Allelic
Composition
Jag1tm1Grid/Jag1+
Notch2tm3.1Grid/Notch2+
Genetic
Background
B6.129S1-Jag1tm1Grid Notch2tm3.1Grid
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1tm1Grid mutation (1 available); any Jag1 mutation (35 available)
Notch2tm3.1Grid mutation (0 available); any Notch2 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
• severe decrease in the number of biliary cells in the periportal regions at P0
• bile duct paucity at P0

endocrine/exocrine glands
• bile duct paucity at P0




Genotype
MGI:5004906
cx8
Allelic
Composition
Jag1tm1Grid/Jag1+
Poglut1Gt(IST10323G11)Tigm/Poglut1+
Genetic
Background
B6.Cg-Jag1tm1Grid Poglut1Gt(IST10323G11)Tigm
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1tm1Grid mutation (1 available); any Jag1 mutation (35 available)
Poglut1Gt(IST10323G11)Tigm mutation (0 available); any Poglut1 mutation (44 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
• severe decrease in the number of biliary cells in the periportal regions at P0
• bile duct paucity at P0

endocrine/exocrine glands
• bile duct paucity at P0




Genotype
MGI:3588033
cx9
Allelic
Composition
Jag1tm1Grid/Cm
Genetic
Background
involves: 101/H * 129S1/Sv * C3H/He * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cm mutation (1 available); any Cm mutation (1 available)
Jag1tm1Grid mutation (1 available); any Jag1 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system

nervous system




Genotype
MGI:3778810
cx10
Allelic
Composition
Jag1tm1Grid/Jag1+
Notch2tm1Grid/Notch2+
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1tm1Grid mutation (1 available); any Jag1 mutation (35 available)
Notch2tm1Grid mutation (1 available); any Notch2 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
• at P7, very little bile duct is present
• postnatal bile duct morphogenesis is defective although differentiation of bile duct precursors is normal

endocrine/exocrine glands
• at P7, very little bile duct is present
• postnatal bile duct morphogenesis is defective although differentiation of bile duct precursors is normal




Genotype
MGI:2384061
cx11
Allelic
Composition
Jag1tm1Grid/Jag1+
Notch2tm1Grid/Notch2+
Genetic
Background
involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1tm1Grid mutation (1 available); any Jag1 mutation (35 available)
Notch2tm1Grid mutation (1 available); any Notch2 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• approximately 50% of the double heterozygotes died within the first week after birth

renal/urinary system
• about a quarter of the glomeruli present lacked glomerular capillary tufts and exhibited capillary aneuryisms similar to those observed in Notch2tm1Grid/Notch2tm1Grid homozygous mutant kidneys
• about a quarter of the glomeruli present exhibited capillary aneuryisms
• kidneys of the double heterozygotes were about half the size of kidneys from the controls

liver/biliary system
• defects in intrahepatic bile duct differentiation
• few morphologically identifiable bile ducts were present
• expression of markers for bile duct epithelial cells was detected; small numbers of these cells were adjacent to the portal veins, but these cells were not arranged into patent epithelial ducts
• expression of markers for hepatoblast cells that are precursors for bile duct epithelial cells indicates that no differences in the number or distribution of these precursors is apparent
• abnormal proliferation of cells adjacent to the portal veins and bile pigment accumulation in the hepatic parenchyma
• chronic; indicated by elevated levels of alanine aminotransferase and alkaline phosphatase

homeostasis/metabolism
• elevated blood urea nitrogen levels
• elevated levels of alanine aminotransferase, indicative of liver and biliary dysfunction
• elevated levels of alkaline phosphatase, indicative of liver and biliary dysfunction

cardiovascular system
• narrowing of the pulmonary artery; incomplete penetrance; observed in 6 of 9 animals
• about a quarter of the glomeruli present lacked glomerular capillary tufts and exhibited capillary aneuryisms similar to those observed in Notch2tm1Grid/Notch2tm1Grid homozygous mutant kidneys
• about a quarter of the glomeruli present exhibited capillary aneuryisms
• dextropositioning (overriding) of the aorta
• incomplete penetrance; observed in 12 of 14 animals
• incomplete penetrance; observed in 6 of 14 animals
• right ventricular hypoplasia

growth/size/body

vision/eye
• eye defects similar to those in Jag1tm1Grid homozygous mice

endocrine/exocrine glands
• defects in intrahepatic bile duct differentiation
• few morphologically identifiable bile ducts were present
• expression of markers for bile duct epithelial cells was detected; small numbers of these cells were adjacent to the portal veins, but these cells were not arranged into patent epithelial ducts
• expression of markers for hepatoblast cells that are precursors for bile duct epithelial cells indicates that no differences in the number or distribution of these precursors is apparent

Mouse Models of Human Disease
OMIM ID Ref(s)
Alagille Syndrome 1; ALGS1 118450 J:74574





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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory