All Phenotypes Notch2<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Notch2⁺
wild type
MGI:1857784

Summary

18 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Notch2^tm1Yha/Notch2⁺	B6.129-Notch2^tm1Yha	MGI:3713687
ht2	Notch2^{Gt(betageo)1Byg}/Notch2⁺	B6.129P2-Notch2^{Gt(betageo)1Byg}	MGI:4360091
ht3	Notch2^{tm1.1(cre/ERT2)Sat}/Notch2⁺	C57BL/6-Notch2^{tm1.1(cre/ERT2)Sat}	MGI:5304925
ht4	Notch2^tm1.1Ecan/Notch2⁺	involves: 129 * 129S1/Sv * C57BL/6J	MGI:5803721
ht5	Notch2^{Gt(AG0498)Wtsi}/Notch2⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:3778200
ht6	Notch2^tm1.1Hhtg/Notch2⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:6766538
ht7	Notch2^tm2.2Ecan/Notch2⁺	involves: 129S1/Sv * C57BL/6J	MGI:6157629
cn8	Notch1^tm1Agt/Notch1⁺ Notch2^tm1Frad/Notch2⁺ Tg(Tyr-cre)2Lru/0	involves: 129 * BALB/c * C57BL/6 * DBA/2	MGI:3758742
cn9	Cd19^tm1(cre)Cgn/Cd19⁺ Notch2^tm1.1Hhi/Notch2⁺	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:4360762
cn10	Jag1^tm1.1Loo/Jag1⁺ Notch2^tm1Grid/Notch2⁺ Tg(Alb1-cre)1Khk/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3848170
cn11	Notch2^tm1Frad/Notch2⁺ Tg(Tyr-cre)2Lru/0	involves: 129/Sv * BALB/c * C57BL/6 * DBA/2	MGI:3758747
cn12	Notch1^tm1Agt/Notch1^tm1Agt Notch2^tm1Frad/Notch2⁺ Tg(Tyr-cre)2Lru/0	involves: 129/Sv * BALB/c * C57BL/6 * DBA/2	MGI:3758744
cx13	Jag1^tm1Grid/Jag1⁺ Notch2^tm3.1Grid/Notch2⁺	B6.129S1-Jag1^tm1Grid Notch2^tm3.1Grid	MGI:5004909
cx14	Notch2^tm3.1Grid/Notch2⁺ Poglut1^{Gt(IST10323G11)Tigm}/Poglut1⁺	B6.Cg-Notch2^tm3.1Grid Poglut1^{Gt(IST10323G11)Tigm}	MGI:5004912
cx15	Notch2^{Gt(LST103)Byg}/Notch2⁺ Notch3^{Gt(PST033)Byg}/Notch3^{Gt(PST033)Byg}	involves: 129P2/OlaHsd	MGI:4418249
cx16	Jag1^tm1Grid/Jag1⁺ Notch2^tm1Grid/Notch2⁺	involves: 129S1/Sv	MGI:3778810
cx17	Notch2^tm1Grid/Notch2⁺ Dll1^tm1Gos/Dll1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3583235
cx18	Jag1^tm1Grid/Jag1⁺ Notch2^tm1Grid/Notch2⁺	involves: 129S1/Sv * C57BL/6J	MGI:2384061

Allelic Composition	Notch2^tm1Yha/Notch2⁺
Genetic Background	B6.129-Notch2^tm1Yha

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch2^tm1Yha mutation (0 available); any Notch2 mutation (97 available)

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

immune system

decreased B-1 B cell number ( J:85379 )

• reduction in B-1 B cells of the peritoneal cavity

abnormal spleen marginal zone morphology ( J:85379 )

• impaired development of marginal zone B cells results in a severe reduction in marginal zone B cells of the spleen

• however, splenic architecture is grossly normal

decreased marginal zone B cell number ( J:85379 )

• severe reduction in marginal zone B cells of the spleen

hematopoietic system

decreased B-1 B cell number ( J:85379 )

• reduction in B-1 B cells of the peritoneal cavity

abnormal spleen marginal zone morphology ( J:85379 )

• impaired development of marginal zone B cells results in a severe reduction in marginal zone B cells of the spleen

• however, splenic architecture is grossly normal

decreased marginal zone B cell number ( J:85379 )

• severe reduction in marginal zone B cells of the spleen

Allelic Composition	Notch2^{Gt(betageo)1Byg}/Notch2⁺
Genetic Background	B6.129P2-Notch2^{Gt(betageo)1Byg}

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch2^{Gt(betageo)1Byg} mutation (0 available); any Notch2 mutation (97 available)

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

immune system

decreased marginal zone B cell number ( J:146621 )

• the number of marginal zone B cells in the spleen is about one-quarter of that found in wild-type mice

hematopoietic system

decreased marginal zone B cell number ( J:146621 )

• the number of marginal zone B cells in the spleen is about one-quarter of that found in wild-type mice

Allelic Composition	Notch2^{tm1.1(cre/ERT2)Sat}/Notch2⁺
Genetic Background	C57BL/6-Notch2^{tm1.1(cre/ERT2)Sat}

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch2^{tm1.1(cre/ERT2)Sat} mutation (0 available); any Notch2 mutation (97 available)

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

normal phenotype

no abnormal phenotype detected ( J:179632 )

• heterozygotes are viable and fertile

Allelic Composition	Notch2^tm1.1Ecan/Notch2⁺
Genetic Background	involves: 129 * 129S1/Sv * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch2^tm1.1Ecan mutation (0 available); any Notch2 mutation (97 available)

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

growth/size/body

decreased body weight ( J:230045 )

• mice weight about 20% less than controls at 1 month of age, however as mice mature, they weight about 10% less at 3 months of age

skeleton

abnormal osteoclast morphology ( J:230045 )

• 25% increase in the fraction of B220^-CD3^-CD11b^-/lo, CD115 (c-Fms)^high CD117 (c-Kit)^high cells in the bone marrow, indicating an increase in the pre-osteoclast cell pool

abnormal osteoclast differentiation ( J:230045 )

• osteoclast differentiation and bone resorption in response to receptor activator of nuclear factor kappaB ligand in vitro are increased

increased osteoclast cell number ( J:230045 )

• increase in endocortical osteoclast number and eroded surface in 1 month old mice, however this increase is no longer significant at 3 months of age

• however, no change in osteoblast number/perimeter, osteoblast surface, bone formation rate, or osteocyte number/bone area, indicating enhanced bone resorption without a coupled bone-forming response

• osteoblast, osteoclast, and osteocyte numbers are normal in 3 month old mice

short femur ( J:230045 )

• femoral length is 12% shorter at 1 month of age, but at 3 months of age, femoral length in males is no different from controls and is only 5% shorter in females

decreased bone mineral density ( J:230045 )

• osteopenia affecting both cancellous and cortical bone

• osteopenia is less pronounced in females than males at 1 month of age but as females mature, osteopenia becomes more evident

decreased bone volume ( J:230045 )

• decrease in bone volume/tissue volume is secondary to a decrease in trabecular number

decreased trabecular bone volume ( J:230045 )

• 50% and 20% decrease in trabecular bone volume at 1 month of age in males and females, respectively

• non-significant decrease in cancellous bone volume of 30% in males and a significant decrease of 50% in females at 3 months of age

abnormal compact bone morphology ( J:230045 )

• cortical bone is porous

• decrease in cortical bone and overall bone size is more pronounced at 1 month of age than 3 months of age, although cortical bone architecture remains affected at 3 months

decreased compact bone area ( J:230045 )

decreased compact bone thickness ( J:230045 )

increased osteoblast cell number ( J:230045 )

• at 3 months of age, osteoblast numbers and mineral apposition rates are increased in males, but not females

decreased bone trabecula number ( J:230045 )

decreased trabecular bone connectivity density ( J:230045 )

• decrease in cancellous bone volume in males is associated with decreased connectivity

decreased trabecular bone thickness ( J:230045 )

increased bone mineralization ( J:230045 )

• at 3 months of age, osteoblast numbers and mineral apposition rates are increased in males, but not females

increased bone resorption ( J:230045 )

• enhanced bone resorption without a coupled bone-forming response at 1 month of age

hematopoietic system

abnormal osteoclast morphology ( J:230045 )

• 25% increase in the fraction of B220^-CD3^-CD11b^-/lo, CD115 (c-Fms)^high CD117 (c-Kit)^high cells in the bone marrow, indicating an increase in the pre-osteoclast cell pool

abnormal osteoclast differentiation ( J:230045 )

• osteoclast differentiation and bone resorption in response to receptor activator of nuclear factor kappaB ligand in vitro are increased

increased osteoclast cell number ( J:230045 )

• increase in endocortical osteoclast number and eroded surface in 1 month old mice, however this increase is no longer significant at 3 months of age

• osteoblast, osteoclast, and osteocyte numbers are normal in 3 month old mice

immune system

abnormal osteoclast morphology ( J:230045 )

• 25% increase in the fraction of B220^-CD3^-CD11b^-/lo, CD115 (c-Fms)^high CD117 (c-Kit)^high cells in the bone marrow, indicating an increase in the pre-osteoclast cell pool

abnormal osteoclast differentiation ( J:230045 )

• osteoclast differentiation and bone resorption in response to receptor activator of nuclear factor kappaB ligand in vitro are increased

increased osteoclast cell number ( J:230045 )

• increase in endocortical osteoclast number and eroded surface in 1 month old mice, however this increase is no longer significant at 3 months of age

• osteoblast, osteoclast, and osteocyte numbers are normal in 3 month old mice

limbs/digits/tail

short femur ( J:230045 )

• femoral length is 12% shorter at 1 month of age, but at 3 months of age, femoral length in males is no different from controls and is only 5% shorter in females

cellular

abnormal osteoclast differentiation ( J:230045 )

• osteoclast differentiation and bone resorption in response to receptor activator of nuclear factor kappaB ligand in vitro are increased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hajdu-Cheney syndrome		DOID:2736	OMIM:102500	J:230045

Allelic Composition	Notch2^{Gt(AG0498)Wtsi}/Notch2⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch2^{Gt(AG0498)Wtsi} mutation (0 available); any Notch2 mutation (97 available)

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

normal phenotype

no abnormal phenotype detected ( J:132939 )

Allelic Composition	Notch2^tm1.1Hhtg/Notch2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch2^tm1.1Hhtg mutation (0 available); any Notch2 mutation (97 available)

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

skeleton

abnormal skeleton morphology ( J:311038 )

• length of several bones, such as the L4 vertebral body and femur, are moderately, yet significantly decreased

abnormal osteoclast differentiation ( J:311038 )

• mice show elevated osteoclastogenesis

increased osteoclast cell number ( J:311038 )

• mutant calvarial osteoblasts induce a higher number of osteoclasts in wild-type bone marrow cells when grown in co-culture

decreased femur compact bone thickness ( J:311038 )

• femurs show decreased cortical thickness at 52 weeks of age

decreased diameter of femur ( J:311038 )

• femurs show decreased midshaft diameter at 12, 12, and 52 weeks of age

short femur ( J:311038 )

• length of femurs is moderately, yet significantly, decreased at 12, 24, and 52 weeks of age

short tibia ( J:311038 )

• length of tibia is moderately decreased in 24-week-old mice, but not at 12 or 52 weeks of age

short vertebral body ( J:311038 )

• length of the L4 vertebral body is moderately yet significantly decreased

decreased bone mineral density ( J:311038 )

• mice exhibit osteopenia

decreased trabecular bone volume ( J:311038 )

• femurs show decreased trabecular bone volume at 12, 12, and 52 weeks of age

• vertebral bodies L3 and L4 show a decrease of trabecular bone volume in all age groups, caused by a combination of trabecular thinning and reduced trabecular number

increased osteoblast cell number ( J:311038 )

• mice exhibit increased osteoblast number at 24 and 52 weeks of age, whereas the osteocyte population is unaffected

• mice treated with alendronate starting at 18 weeks of age until 24 weeks of age show a lower number of osteoblasts

decreased bone trabecula number ( J:311038 )

• vertebral bodies L3 and L4 show reduced trabecular number

decreased trabecular bone thickness ( J:311038 )

• vertebral bodies L3 and L4 show trabecular thinning

increased bone ossification ( J:311038 )

• bone formation rate is higher at all ages analyzed, indicating a high turnover state

• mice treated with alendronate starting at 18 weeks of age until 24 weeks of age show a lower number of osteoblasts and reduced bone formation rate indicating normalized bone formation

increased bone resorption ( J:311038 )

• increase of calvarial porosity at all ages, indicating excessive bone resorption

growth/size/body

abnormal body composition ( J:311038 )

• body mass of 24- and 52-week-old mice is reduced

cellular

abnormal osteoclast differentiation ( J:311038 )

• mice show elevated osteoclastogenesis

hematopoietic system

abnormal osteoclast differentiation ( J:311038 )

• mice show elevated osteoclastogenesis

increased osteoclast cell number ( J:311038 )

• mutant calvarial osteoblasts induce a higher number of osteoclasts in wild-type bone marrow cells when grown in co-culture

homeostasis/metabolism

increased circulating type I collagen C-terminal telopeptide level ( J:311038 )

• increase in serum beta-c-terminal telopeptide in 52-week-old mice

abnormal interleukin level ( J:311038 )

• bone marrow contains an increase in IL-6 positive cells in 24-week-old mice

increased circulating interleukin-6 level ( J:311038 )

• IL-6 levels are increased in the serum of 24-week-old mice

immune system

abnormal osteoclast differentiation ( J:311038 )

• mice show elevated osteoclastogenesis

increased osteoclast cell number ( J:311038 )

• mutant calvarial osteoblasts induce a higher number of osteoclasts in wild-type bone marrow cells when grown in co-culture

abnormal interleukin level ( J:311038 )

• bone marrow contains an increase in IL-6 positive cells in 24-week-old mice

increased circulating interleukin-6 level ( J:311038 )

• IL-6 levels are increased in the serum of 24-week-old mice

increased interleukin-6 secretion ( J:311038 )

• IL-6 levels are increased in medium conditioned by bone marrow cells treated with vitamin D3 and dexamethasone

limbs/digits/tail

decreased femur compact bone thickness ( J:311038 )

• femurs show decreased cortical thickness at 52 weeks of age

decreased diameter of femur ( J:311038 )

• femurs show decreased midshaft diameter at 12, 12, and 52 weeks of age

short femur ( J:311038 )

• length of femurs is moderately, yet significantly, decreased at 12, 24, and 52 weeks of age

short tibia ( J:311038 )

• length of tibia is moderately decreased in 24-week-old mice, but not at 12 or 52 weeks of age

renal/urinary system

renal/urinary system phenotype ( J:311038 )

N	• renal cysts are not seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hajdu-Cheney syndrome		DOID:2736	OMIM:102500	J:311038

Allelic Composition	Notch2^tm2.2Ecan/Notch2⁺
Genetic Background	involves: 129S1/Sv * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch2^tm2.2Ecan mutation (0 available); any Notch2 mutation (97 available)

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

skeleton

abnormal femur morphology ( J:246017 )

• femurs are smaller, with total area, bone area, and periosteal and endocortical perimeters reduced

short femur ( J:246017 )

• males exhibit a small approximate 5% reduction in femoral length

decreased bone mineral density ( J:246017 )

• mice exhibit osteopenia

abnormal compact bone morphology ( J:246017 )

• mice exhibit a porous cortical bone

decreased compact bone volume ( J:246017 )

• decrease in femoral midshaft cortical bone volume

decreased compact bone thickness ( J:246017 )

• mice exhibit a thin cortical bone

abnormal trabecular bone morphology ( J:246017 )

decreased trabecular bone volume ( J:246017 )

• mice exhibit a 50% decrease in trabecular bone volume secondary to a reduced number and thickness of trabeculae

abnormal bone trabecula morphology ( J:246017 )

• connectivity density is lower and structure model index is higher, indicating prevelance of rod-like trabeculae

decreased bone trabecula number ( J:246017 )

increased bone trabecular spacing ( J:246017 )

• increase in trabecular separation

decreased trabecular bone connectivity density ( J:246017 )

decreased trabecular bone thickness ( J:246017 )

limbs/digits/tail

abnormal femur morphology ( J:246017 )

• femurs are smaller, with total area, bone area, and periosteal and endocortical perimeters reduced

short femur ( J:246017 )

• males exhibit a small approximate 5% reduction in femoral length

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hajdu-Cheney syndrome		DOID:2736	OMIM:102500	J:246017

Allelic Composition	Notch1^tm1Agt/Notch1⁺ Notch2^tm1Frad/Notch2⁺ Tg(Tyr-cre)2Lru/0
Genetic Background	involves: 129 * BALB/c * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch1^tm1Agt mutation (0 available); any Notch1 mutation (116 available)
Notch2^tm1Frad mutation (0 available); any Notch2 mutation (97 available)
Tg(Tyr-cre)2Lru mutation (0 available)

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

pigmentation

diluted coat color ( J:116658 )

• at 8 weeks, dispersed gray hairs are observed

integument

diluted coat color ( J:116658 )

• at 8 weeks, dispersed gray hairs are observed

Allelic Composition	Cd19^tm1(cre)Cgn/Cd19⁺ Notch2^tm1.1Hhi/Notch2⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cd19^tm1(cre)Cgn mutation (12 available); any Cd19 mutation (61 available)
Notch2^tm1.1Hhi mutation (1 available); any Notch2 mutation (97 available)

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

hematopoietic system

decreased marginal zone B cell number ( J:83476 )

• numbers of marginal zone B cells in the spleen are 1/6 to 1/4 of those in the control mice

• IgM⁺IgD^- marginal zone B cells are reduced in the spleen

immune system

decreased marginal zone B cell number ( J:83476 )

• numbers of marginal zone B cells in the spleen are 1/6 to 1/4 of those in the control mice

• IgM⁺IgD^- marginal zone B cells are reduced in the spleen

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	Notch2^tm1Frad/Notch2⁺ Tg(Tyr-cre)2Lru/0
Genetic Background	involves: 129/Sv * BALB/c * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch2^tm1Frad mutation (0 available); any Notch2 mutation (97 available)
Tg(Tyr-cre)2Lru mutation (0 available)

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

pigmentation

pigmentation phenotype ( J:116658 )

N	• loss of one allele has no affect on coat color; no graying or dilution is observed in 8-week old mice

Allelic Composition	Notch1^tm1Agt/Notch1^tm1Agt Notch2^tm1Frad/Notch2⁺ Tg(Tyr-cre)2Lru/0
Genetic Background	involves: 129/Sv * BALB/c * C57BL/6 * DBA/2

Find Mice

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

pigmentation

pigmentation phenotype ( J:116658 )

N	• pigmentation mediated by non-follicular melanocytes such as in the ear or eye is not affected by this mutation

diluted coat color ( J:116658 )

• coat is completetly gray

integument

diluted coat color ( J:116658 )

• coat is completetly gray

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	Notch2^tm3.1Grid/Notch2⁺ Poglut1^{Gt(IST10323G11)Tigm}/Poglut1⁺
Genetic Background	B6.Cg-Notch2^tm3.1Grid Poglut1^{Gt(IST10323G11)Tigm}

Find Mice

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

liver/biliary system phenotype ( J:171432 )

N	• do not show bile duct abnormalities

Allelic Composition	Notch2^{Gt(LST103)Byg}/Notch2⁺ Notch3^{Gt(PST033)Byg}/Notch3^{Gt(PST033)Byg}
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch2^{Gt(LST103)Byg} mutation (0 available); any Notch2 mutation (97 available)
Notch3^{Gt(PST033)Byg} mutation (0 available); any Notch3 mutation (95 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:155893 )

• mice die shortly after birth

respiratory system

abnormal lung development ( J:155893 )

• myofibroblasts in the lungs exhibit reduced differentiation, as determined by sma+ expression, compared to in wild-type mice

impaired lung alveolus development ( J:155893 )

• 3 of 6 surviving mice exhibit altered alveolar development compared to wild-type mice

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	Notch2^tm1Grid/Notch2⁺ Dll1^tm1Gos/Dll1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dll1^tm1Gos mutation (2 available); any Dll1 mutation (45 available)
Notch2^tm1Grid mutation (1 available); any Notch2 mutation (97 available)

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

renal/urinary system

renal/urinary system phenotype ( J:67157 )

N	• no kidney defects were observed despite expression of both genes in the developing glomerulus

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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