All Phenotypes Jag1<tm1Frad> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Jag1^tm1Frad
targeted mutation 1, Freddy Radtke
MGI:3577993

Summary

11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Jag1^tm1Frad/Jag1^tm1Frad Tg(Cdh5-cre)7Mlia/0	B6.Cg-Jag1^tm1Frad Tg(Cdh5-cre)7Mlia	MGI:5447166
cn2	Jag1^tm1Frad/Jag1^tm1Frad Tg(Tagln-cre)1Her/0	B6.Cg-Jag1^tm1Frad Tg(Tagln-cre)1Her	MGI:5447165
cn3	Jag1^tm1Frad/Jag1^tm1Frad Tg(Cdh5-cre)7Mlia/0 Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺	involves: 129 * 129S4/SvJaeSor * FVB/N	MGI:5447167
cn4	Jag1^tm1Frad/Jag1^tm1Frad Tg(Mx1-cre)1Cgn/0	involves: 129 * C57BL/6 * CBA	MGI:3578401
cn5	Jag1^tm1Frad/Jag1^tm1Frad Notch1^tm1Agt/Notch1^tm1Agt Tg(Mx1-cre)1Cgn/0	involves: 129 * C57BL/6 * CBA	MGI:3578403
cn6	Dll1^tm1Mjo/Dll1^tm1Mjo Jag1^tm1Frad/Jag1^tm1Frad Tg(Six2-EGFP/cre)1Amc/0	involves: 129/Sv * C57BL/6 * CD-1	MGI:5523692
cn7	Dll1^tm1Mjo/Dll1⁺ Jag1^tm1Frad/Jag1⁺ Tg(Six2-EGFP/cre)1Amc/0	involves: 129/Sv * C57BL/6 * CD-1	MGI:5523694
cn8	Dll1^tm1Mjo/Dll1^tm1Mjo Jag1^tm1Frad/Jag1⁺ Tg(Six2-EGFP/cre)1Amc/0	involves: 129/Sv * C57BL/6 * CD-1	MGI:5523691
cn9	Jag1^tm1Frad/Jag1^tm1Frad Tg(Six2-EGFP/cre)1Amc/0	involves: 129/Sv * C57BL/6 * CD-1	MGI:5523695
cn10	Jag1^tm1Frad/Jag1⁺ Tg(Six2-EGFP/cre)1Amc/0	involves: 129/Sv * C57BL/6 * CD-1	MGI:5523696
cn11	Dll1^tm1Mjo/Dll1⁺ Jag1^tm1Frad/Jag1^tm1Frad Tg(Six2-EGFP/cre)1Amc/0	involves: 129/Sv * C57BL/6 * CD-1	MGI:5523693

Allelic Composition	Jag1^tm1Frad/Jag1^tm1Frad Tg(Cdh5-cre)7Mlia/0
Genetic Background	B6.Cg-Jag1^tm1Frad Tg(Cdh5-cre)7Mlia

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^tm1Frad mutation (0 available); any Jag1 mutation (76 available)
Tg(Cdh5-cre)7Mlia mutation (1 available)

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

growth/size/body

heart right ventricle hypertrophy ( J:189213 )

mortality/aging

mortality/aging ( J:166890 )

N	• contrary to previous reports, viable mice are produced

cardiovascular system

abnormal pulmonary trunk morphology ( J:189213 )

• abnormal positioning of the aorta and pulmonary trunk

abnormal aorta morphology ( J:189213 )

• abnormal positioning of the aorta and pulmonary trunk

abnormal cardiac outflow tract development ( J:189213 )

abnormal heart morphology ( J:189213 )

abnormal coronary vessel morphology ( J:189213 )

• fragile and hemorrhaging in embryos and neonates

• thin and disorganized

overriding aortic valve ( J:189213 )

increased heart right atrium size ( J:189213 )

• hypertrophy

ventricular septal defect ( J:189213 )

• incomplete at E14.5

abnormal heart valve morphology ( J:189213 )

• large and hyperplastic (myxomatous)

• neonates exhibit bulges near the valve annulus

• cartilage nodules and calcification in the annulus of adults

calcified aortic valve ( J:189213 )

pulmonary valve stenosis ( J:189213 )

thick heart valve cusps ( J:189213 )

• thick at P10 with lower nuclear density indicating changes in the extracellular matrix rather than increase in cell density

• increased outflow tract valve leaflet width in adults

increased heart right ventricle size ( J:189213 )

• increased area

heart right ventricle hypertrophy ( J:189213 )

increased heart right ventricle wall thickness ( J:189213 )

dilated heart ( J:189213 )

• near the apex

pulmonary valve regurgitation ( J:189213 )

• severe

increased systemic arterial systolic blood pressure ( J:189213 )

• with severe regurgitation at the pulmonic valve

muscle

heart right ventricle hypertrophy ( J:189213 )

liver/biliary system

liver/biliary system phenotype ( J:166890 )

N	• mice exhibit normal bile duct formation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alagille syndrome		DOID:9245	OMIM:118450 OMIM:610205	J:189213

Allelic Composition	Jag1^tm1Frad/Jag1^tm1Frad Tg(Tagln-cre)1Her/0
Genetic Background	B6.Cg-Jag1^tm1Frad Tg(Tagln-cre)1Her

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^tm1Frad mutation (0 available); any Jag1 mutation (76 available)
Tg(Tagln-cre)1Her mutation (2 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:166890 )

• most mice die within 2 days of birth with few surviving beyond 4 weeks

postnatal lethality, incomplete penetrance ( J:166890 )

• most mice die within 2 days of birth with few surviving beyond 4 weeks

cellular

hepatic necrosis ( J:166890 )

liver/biliary system

liver hemorrhage ( J:166890 )

• multifoci

hepatic necrosis ( J:166890 )

abnormal bile duct morphology ( J:166890 )

• absent or incompletely formed bile ducts near the portal veins

abnormal bile duct development ( J:166890 )

• biliary epithelial cells are unable to organize into tubules; portal vein mesenchyme is reduced

• epithelial cells fail to aggregate

abnormal bile secretion ( J:166890 )

• accumulation of bile in liver parenchyma

cholestasis ( J:166890 )

jaundice ( J:166890 )

• at birth

homeostasis/metabolism

increased circulating bilirubin level ( J:166890 )

• total and conjugated

increased circulating cholesterol level ( J:166890 )

increased circulating alanine transaminase level ( J:166890 )

increased circulating alkaline phosphatase level ( J:166890 )

increased circulating aspartate transaminase level ( J:166890 )

increased circulating lactate dehydrogenase level ( J:166890 )

increased circulating gamma-glutamyl transferase level ( J:166890 )

growth/size/body

decreased body weight ( J:166890 )

• at P25

postnatal growth retardation ( J:166890 )

• at birth and in mice that survive beyond 4 weeks, worsening over time

behavior/neurological

lethargy ( J:166890 )

• in mice that survive beyond 4 weeks, worsening over time

cardiovascular system

liver hemorrhage ( J:166890 )

• multifoci

integument

alopecia ( J:166890 )

• in mice that survive beyond 4 weeks, worsening over time

endocrine/exocrine glands

abnormal bile duct morphology ( J:166890 )

• absent or incompletely formed bile ducts near the portal veins

abnormal bile duct development ( J:166890 )

• biliary epithelial cells are unable to organize into tubules; portal vein mesenchyme is reduced

• epithelial cells fail to aggregate

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alagille syndrome		DOID:9245	OMIM:118450 OMIM:610205	J:166890

Allelic Composition	Jag1^tm1Frad/Jag1^tm1Frad Tg(Cdh5-cre)7Mlia/0 Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺
Genetic Background	involves: 129 * 129S4/SvJaeSor * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^tm1Sor mutation (8 available); any Gt(ROSA)26Sor mutation (942 available)
Jag1^tm1Frad mutation (0 available); any Jag1 mutation (76 available)
Tg(Cdh5-cre)7Mlia mutation (1 available)

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

cardiovascular system

abnormal cardiac epithelial to mesenchymal transition ( J:189213 )

• temporarily delayed at E10.5

abnormal atrioventricular cushion morphology ( J:189213 )

• at E10.5, atrioventricular cushions exhibit rounded endocardial-derived cells that accumulate at the cushion interface and less dense, hypoplastic areas unlike in control mice

Allelic Composition	Jag1^tm1Frad/Jag1^tm1Frad Tg(Mx1-cre)1Cgn/0
Genetic Background	involves: 129 * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^tm1Frad mutation (0 available); any Jag1 mutation (76 available)
Tg(Mx1-cre)1Cgn mutation (7 available)

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

hematopoietic system

hematopoietic system phenotype ( J:98129 )

N	• homozygous mutant mice exhibit normal hematopoiesis, including normal hematopoietic stem cell self-renewal and differentiation

Allelic Composition	Jag1^tm1Frad/Jag1^tm1Frad Notch1^tm1Agt/Notch1^tm1Agt Tg(Mx1-cre)1Cgn/0
Genetic Background	involves: 129 * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1^tm1Frad mutation (0 available); any Jag1 mutation (76 available)
Notch1^tm1Agt mutation (0 available); any Notch1 mutation (115 available)
Tg(Mx1-cre)1Cgn mutation (7 available)

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

hematopoietic system

hematopoietic system phenotype ( J:98129 )

N	• homozygous mutant mice exhibit normal hematopoiesis, including normal hematopoietic stem cell self-renewal and differentiation

Allelic Composition	Dll1^tm1Mjo/Dll1^tm1Mjo Jag1^tm1Frad/Jag1^tm1Frad 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 (3 available); any Dll1 mutation (46 available)
Jag1^tm1Frad mutation (0 available); any Jag1 mutation (76 available)
Tg(Six2-EGFP/cre)1Amc mutation (1 available)

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

renal/urinary system

decreased nephron number ( J:198632 )

• almost all nephrons are absent

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

♀	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^tm1Frad/Jag1^tm1Frad 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 (76 available)
Tg(Six2-EGFP/cre)1Amc mutation (1 available)

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

renal/urinary system

decreased nephron number ( J:198632 )

• nephron number is highly reduced

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 (76 available)
Tg(Six2-EGFP/cre)1Amc mutation (1 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^tm1Frad 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

absent podocytes ( J:198632 )

• podocytes are almost entirely absent; one allele of Dll1 cannot support podocyte production

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