All Phenotypes Jag1<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Jag1⁺
wild type
MGI:2384057

Summary

18 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Jag1^Mhdahtu/Jag1⁺	C3HeB/FeJ-Jag1^Mhdahtu	MGI:3717461
ht2	Jag1^Yo/Jag1⁺	C3HeB/FeJ-Jag1^Yo	MGI:5305602
ht3	Jag1^{Gt(betageo)1Byg}/Jag1⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:4360092
ht4	Jag1^tm1Grid/Jag1⁺	involves: 129S1/Sv * C57BL/6 * FVB	MGI:2384058
ht5	Jag1^Slalom/Jag1⁺	involves: BALB/c * C3H	MGI:3587506
ht6	Jag1^Ozz/Jag1⁺	involves: BALB/cOla * C3H	MGI:2664267
ht7	Jag1^Ndr/Jag1⁺	involves: C3HeB/FeJ	MGI:4420953
cn8	Jag1^tm1.1Loo/Jag1⁺ Notch2^tm1Grid/Notch2⁺ Tg(Alb1-cre)1Khk/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3848170
cn9	Jag1^tm1Frad/Jag1⁺ Tg(Six2-EGFP/cre)1Amc/0	involves: 129/Sv * C57BL/6 * CD-1	MGI:5523696
cn10	Dll1^tm1Mjo/Dll1⁺ Jag1^tm1Frad/Jag1⁺ Tg(Six2-EGFP/cre)1Amc/0	involves: 129/Sv * C57BL/6 * CD-1	MGI:5523694
cn11	Dll1^tm1Mjo/Dll1^tm1Mjo Jag1^tm1Frad/Jag1⁺ Tg(Six2-EGFP/cre)1Amc/0	involves: 129/Sv * C57BL/6 * CD-1	MGI:5523691
cx12	Jag1^tm1Grid/Jag1⁺ Notch2^tm3.1Grid/Notch2⁺	B6.129S1-Jag1^tm1Grid Notch2^tm3.1Grid	MGI:5004909
cx13	Jag1^tm1Grid/Jag1⁺ Poglut1^{Gt(IST10323G11)Tigm}/Poglut1⁺	B6.Cg-Jag1^tm1Grid Poglut1^{Gt(IST10323G11)Tigm}	MGI:5004906
cx14	Jag1^Mhdahtu/Jag1⁺ Six1^Cwe/Six1⁺	C3HeB/FeJ-C3HeB/FeJ-Jag1^Htu Six1^Cwe	MGI:3849174
cx15	Jag1^tm1Grid/Cm	involves: 101/H * 129S1/Sv * C3H/He * C57BL/6 * FVB/N	MGI:3588033
cx16	Jag1^tm1.1Vtlr/Jag1⁺ Notch1^tm2Agt/Notch1⁺	involves: 129	MGI:3618372
cx17	Jag1^tm1Grid/Jag1⁺ Notch2^tm1Grid/Notch2⁺	involves: 129S1/Sv	MGI:3778810
cx18	Jag1^tm1Grid/Jag1⁺ Notch2^tm1Grid/Notch2⁺	involves: 129S1/Sv * C57BL/6J	MGI:2384061

Allelic Composition	Jag1^Mhdahtu/Jag1⁺
Genetic Background	C3HeB/FeJ-Jag1^Mhdahtu

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^Mhdahtu mutation (2 available); any Jag1 mutation (78 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Inner ear of Jag1^Mhdahtu/Jag1⁺ mice at E16.5 shows missing or smaller ampullae

behavior/neurological

head shaking ( J:72108 )

• mild head shaking behavior

head tossing ( J:86685 )

• age of onset is approximately weaning age

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:72108 )

N	• mutants are not deaf and have normal endocochlear potentials, but have slightly, although not significant, raised thresholds for compound action potentials

abnormal organ of Corti morphology ( J:72108 )

abnormal cochlear hair cell morphology ( J:72108 )

• display atypical hair cells that exhibit the bundle morphology of outer hair cells but reside in the inner hair cell row, resulting in an overall increases in the number of inner hair cells by 17%

decreased cochlear outer hair cell number ( J:72108 )

• 33% reduction in the numbers of outer hair cells; instead of the normal 3 rows of outer hair cells there are only 2 rows and in some regions, only one row

increased cochlear inner hair cell number ( J:72108 )

• the number of inner hair cells is increased slightly, with occasional cells appearing in a second row toward the inner sulcus

abnormal semicircular canal morphology ( J:72108 )

• truncation of semicircular canals

abnormal semicircular canal ampulla morphology ( J:72108 )

• posterior and sometimes anterior ampullae are missing; most mice have both ampullae missing

• when present, the anterior ampulla is small

• in the few cases where the posterior ampulla is present, it is very small

abnormal crista ampullaris morphology ( J:72108 , J:149467 )

• anterior crista at P3 is small, flat and missing eminentia cruciata (J:72108)

• mice lack anterior cristae and sometime posterior cristae unlike in wild-type mice (J:149467)

nervous system

abnormal cochlear hair cell morphology ( J:72108 )

decreased cochlear outer hair cell number ( J:72108 )

• 33% reduction in the numbers of outer hair cells; instead of the normal 3 rows of outer hair cells there are only 2 rows and in some regions, only one row

increased cochlear inner hair cell number ( J:72108 )

• the number of inner hair cells is increased slightly, with occasional cells appearing in a second row toward the inner sulcus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alagille syndrome		DOID:9245	OMIM:118450 OMIM:610205	J:72108

Allelic Composition	Jag1^Yo/Jag1⁺
Genetic Background	C3HeB/FeJ-Jag1^Yo

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^Yo mutation (1 available); any Jag1 mutation (78 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hearing/vestibular/ear

decreased cochlear outer hair cell number ( J:82809 )

• reduced rows of outer hair cells

abnormal posterior semicircular canal morphology ( J:82809 )

• truncation of the posterior and/or superior semicircular canals

abnormal superior semicircular canal morphology ( J:82809 )

• truncation of the posterior and/or superior semicircular canals

nervous system

decreased cochlear outer hair cell number ( J:82809 )

• reduced rows of outer hair cells

Allelic Composition	Jag1^{Gt(betageo)1Byg}/Jag1⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^{Gt(betageo)1Byg} mutation (0 available); any Jag1 mutation (78 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

normal phenotype

no abnormal phenotype detected ( J:146621 )

Allelic Composition	Jag1^tm1Grid/Jag1⁺
Genetic Background	involves: 129S1/Sv * C57BL/6 * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^tm1Grid mutation (1 available); any Jag1 mutation (78 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

abnormal eye morphology ( J:54907 )

• Background Sensitivity: eye phenotypes are described as fully penetrant on an 80% C57BL/6 genetic background and incompletely penetrant on a mixed background

abnormal placement of pupils ( J:54907 )

irregularly shaped pupil ( J:54907 )

iris coloboma ( J:54907 )

• iris coloboma

cornea opacity ( J:54907 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Alagille syndrome	DOID:9245	OMIM:118450 OMIM:610205	J:54907

Allelic Composition	Jag1^Slalom/Jag1⁺
Genetic Background	involves: BALB/c * C3H

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^Slalom mutation (2 available); any Jag1 mutation (78 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

head shaking ( J:67728 )

• subtle headweaving/shaking behavior

positive geotaxis ( J:67728 )

• described as poor negative geotaxis

hearing/vestibular/ear

abnormal cochlear sensory epithelium morphology ( J:67728 )

• supernumary or atypical outer hair cells sometimes found in inner hair cell rows

decreased cochlear outer hair cell number ( J:67728 )

• reduced numbers of outer hair cells

• some regions lacking entire rows while isolated hair cells missing in other regions

• decreased outer hair cell counts in both basal and apical turns

increased cochlear inner hair cell number ( J:67728 )

• significantly increased inner hair cell counts in base of cochlea but not apical regions

abnormal semicircular canal morphology ( J:67728 )

• either posterior or anterior semicircular canal truncated

• sometimes both anterior and posterior semicircular canals absent

abnormal semicircular canal ampulla morphology ( J:67728 )

• absence of ampullae

nervous system

decreased cochlear outer hair cell number ( J:67728 )

• reduced numbers of outer hair cells

• some regions lacking entire rows while isolated hair cells missing in other regions

• decreased outer hair cell counts in both basal and apical turns

increased cochlear inner hair cell number ( J:67728 )

• significantly increased inner hair cell counts in base of cochlea but not apical regions

Allelic Composition	Jag1^Ozz/Jag1⁺
Genetic Background	involves: BALB/cOla * C3H

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^Ozz mutation (2 available); any Jag1 mutation (78 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

head bobbing ( J:83917 )

head shaking ( J:82809 )

• described as headweaving

circling ( J:82809 )

Allelic Composition	Jag1^Ndr/Jag1⁺
Genetic Background	involves: C3HeB/FeJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^Ndr mutation (1 available); any Jag1 mutation (78 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

impaired balance ( J:156172 )

head bobbing ( J:156172 )

Allelic Composition	Jag1^tm1.1Loo/Jag1⁺ Notch2^tm1Grid/Notch2⁺ 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:
Jag1^tm1.1Loo mutation (0 available); any Jag1 mutation (78 available)
Notch2^tm1Grid mutation (1 available); any Notch2 mutation (97 available)
Tg(Alb1-cre)1Khk mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

normal phenotype

no abnormal phenotype detected ( J:149131 )

• no abnormal phenotype was observed including in the bile ducts

Allelic Composition	Jag1^tm1Frad/Jag1⁺ Tg(Six2-EGFP/cre)1Amc/0
Genetic Background	involves: 129/Sv * C57BL/6 * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^tm1Frad mutation (0 available); any Jag1 mutation (78 available)
Tg(Six2-EGFP/cre)1Amc mutation (2 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

renal/urinary system phenotype ( J:198632 )

N	• nephron development appears essentially normal

Allelic Composition	Dll1^tm1Mjo/Dll1⁺ Jag1^tm1Frad/Jag1⁺ Tg(Six2-EGFP/cre)1Amc/0
Genetic Background	involves: 129/Sv * C57BL/6 * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dll1^tm1Mjo mutation (4 available); any Dll1 mutation (45 available)
Jag1^tm1Frad mutation (0 available); any Jag1 mutation (78 available)
Tg(Six2-EGFP/cre)1Amc mutation (2 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

renal/urinary system phenotype ( J:198632 )

N	• nephron development appears essentially normal

Allelic Composition	Dll1^tm1Mjo/Dll1^tm1Mjo Jag1^tm1Frad/Jag1⁺ Tg(Six2-EGFP/cre)1Amc/0
Genetic Background	involves: 129/Sv * C57BL/6 * CD-1

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

abnormal nephron morphogenesis ( J:198632 )

decreased nephron number ( J:198632 )

• nephron number is severely compromised, but some podocytes form

Allelic Composition	Jag1^tm1Grid/Jag1⁺ Notch2^tm3.1Grid/Notch2⁺
Genetic Background	B6.129S1-Jag1^tm1Grid Notch2^tm3.1Grid

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^tm1Grid mutation (1 available); any Jag1 mutation (78 available)
Notch2^tm3.1Grid mutation (0 available); any Notch2 mutation (97 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

liver/biliary system

abnormal biliary tract morphology ( J:171432 )

• severe decrease in the number of biliary cells in the periportal regions at P0

abnormal bile duct morphology ( J:171432 )

• bile duct paucity at P0

endocrine/exocrine glands

abnormal bile duct morphology ( J:171432 )

• bile duct paucity at P0

Allelic Composition	Jag1^tm1Grid/Jag1⁺ Poglut1^{Gt(IST10323G11)Tigm}/Poglut1⁺
Genetic Background	B6.Cg-Jag1^tm1Grid Poglut1^{Gt(IST10323G11)Tigm}

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^tm1Grid mutation (1 available); any Jag1 mutation (78 available)
Poglut1^{Gt(IST10323G11)Tigm} mutation (0 available); any Poglut1 mutation (59 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

liver/biliary system

abnormal biliary tract morphology ( J:171432 )

• severe decrease in the number of biliary cells in the periportal regions at P0

abnormal bile duct morphology ( J:171432 )

• bile duct paucity at P0

endocrine/exocrine glands

abnormal bile duct morphology ( J:171432 )

• bile duct paucity at P0

Allelic Composition	Jag1^Mhdahtu/Jag1⁺ Six1^Cwe/Six1⁺
Genetic Background	C3HeB/FeJ-C3HeB/FeJ-Jag1^Htu Six1^Cwe

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^Mhdahtu mutation (2 available); any Jag1 mutation (78 available)
Six1^Cwe mutation (1 available); any Six1 mutation (19 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hearing/vestibular/ear

abnormal inner ear canal morphology ( J:149467 )

• anterior and posterior canals are truncated compared to in wild-type mice

• however, lateral canals are normal

abnormal posterior semicircular canal morphology ( J:149467 )

• truncated

abnormal crista ampullaris morphology ( J:149467 )

• mice lack cristae unlike wild-type mice

abnormal superior semicircular canal morphology ( J:149467 )

• truncated

behavior/neurological

head bobbing ( J:149467 )

circling ( J:149467 )

Allelic Composition	Jag1^tm1Grid/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)
Jag1^tm1Grid mutation (1 available); any Jag1 mutation (78 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

intracranial hemorrhage ( J:54907 )

nervous system

intracranial hemorrhage ( J:54907 )

Allelic Composition	Jag1^tm1.1Vtlr/Jag1⁺ Notch1^tm2Agt/Notch1⁺
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^tm1.1Vtlr mutation (0 available); any Jag1 mutation (78 available)
Notch1^tm2Agt mutation (0 available); any Notch1 mutation (116 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

postnatal lethality, complete penetrance ( J:103728 )

• most double heterozygotes die a few hours after birth; only 10% survive up to 8 days

nervous system

abnormal rostral migratory stream morphology ( J:103728 )

• at P4, there is a significant reduction in the number of mitotic cells in the rostral migratory stream of brains from mutants at P4

abnormal postnatal subventricular zone morphology ( J:103728 )

• at P4, there is a significant reduction in the number of dividing cells in the subventricular zone of brains from double heterozygotes

• at P8, the subventricular zone is noticeably thinner, with reduced cellularity and a 60% reduction in the number of proliferating cells compared to wild-type

Allelic Composition	Jag1^tm1Grid/Jag1⁺ Notch2^tm1Grid/Notch2⁺
Genetic Background	involves: 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^tm1Grid mutation (1 available); any Jag1 mutation (78 available)
Notch2^tm1Grid mutation (1 available); any Notch2 mutation (97 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

liver/biliary system

abnormal bile duct morphology ( J:133171 )

• at P7, very little bile duct is present

abnormal bile duct development ( J:133171 )

• postnatal bile duct morphogenesis is defective although differentiation of bile duct precursors is normal

endocrine/exocrine glands

abnormal bile duct morphology ( J:133171 )

• at P7, very little bile duct is present

abnormal bile duct development ( J:133171 )

• postnatal bile duct morphogenesis is defective although differentiation of bile duct precursors is normal

Allelic Composition	Jag1^tm1Grid/Jag1⁺ Notch2^tm1Grid/Notch2⁺
Genetic Background	involves: 129S1/Sv * C57BL/6J

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

postnatal lethality, incomplete penetrance ( J:74574 )

• approximately 50% of the double heterozygotes died within the first week after birth

renal/urinary system

abnormal glomerular capillary morphology ( J:67157 )

• about a quarter of the glomeruli present lacked glomerular capillary tufts and exhibited capillary aneuryisms similar to those observed in Notch2^tm1Grid/Notch2^tm1Grid homozygous mutant kidneys

kidney microaneurysm ( J:74574 )

• about a quarter of the glomeruli present exhibited capillary aneuryisms

decreased renal glomerulus number ( J:74574 )

• greatly reduced

small kidney ( J:67157 )

• kidneys of the double heterozygotes were about half the size of kidneys from the controls

liver/biliary system

abnormal bile duct development ( J:74574 )

• 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 liver morphology ( J:74574 )

• abnormal proliferation of cells adjacent to the portal veins and bile pigment accumulation in the hepatic parenchyma

cholestasis ( J:74574 )

• chronic; indicated by elevated levels of alanine aminotransferase and alkaline phosphatase

jaundice ( J:74574 )

homeostasis/metabolism

increased blood urea nitrogen level ( J:74574 )

• elevated blood urea nitrogen levels

increased circulating alanine transaminase level ( J:74574 )

• elevated levels of alanine aminotransferase, indicative of liver and biliary dysfunction

increased circulating alkaline phosphatase level ( J:74574 )

• elevated levels of alkaline phosphatase, indicative of liver and biliary dysfunction

cardiovascular system

pulmonary artery stenosis ( J:74574 )

• narrowing of the pulmonary artery; incomplete penetrance; observed in 6 of 9 animals

abnormal glomerular capillary morphology ( J:67157 )

• about a quarter of the glomeruli present lacked glomerular capillary tufts and exhibited capillary aneuryisms similar to those observed in Notch2^tm1Grid/Notch2^tm1Grid homozygous mutant kidneys

kidney microaneurysm ( J:74574 )

• about a quarter of the glomeruli present exhibited capillary aneuryisms

overriding aortic valve ( J:74574 )

• dextropositioning (overriding) of the aorta

atrial septal defect ( J:74574 )

• incomplete penetrance; observed in 12 of 14 animals

ventricular septal defect ( J:74574 )

• incomplete penetrance; observed in 6 of 14 animals

ventricular hypoplasia ( J:74574 )

• right ventricular hypoplasia

growth/size/body

postnatal growth retardation ( J:74574 )

vision/eye

abnormal anterior eye segment morphology ( J:74574 )

• eye defects similar to those in Jag1^tm1Grid homozygous mice

endocrine/exocrine glands

abnormal bile duct development ( J:74574 )

• 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		DO ID	OMIM ID(s)	Ref(s)
Alagille syndrome		DOID:9245	OMIM:118450 OMIM:610205	J:74574

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