Phenotypes associated with this allele

• Allele Symbol: Rbpj^tm1Kyo
• Allele Name: targeted mutation 1, Kyoto University
• Allele ID: MGI:1857411
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rbpj^tm1Kyo/Rbpj^tm1Kyo	involves: 129S2/SvPas	MGI:3713641
hm2	Rbpj^tm1Kyo/Rbpj^tm1Kyo	involves: 129S2/SvPas * C57BL/6	MGI:2166381
ht3	Rbpj^tm1Kyo/Rbpj^+	involves: 129S2/SvPas * CD-1	MGI:6236251
cn4	Rbpj^tm1Kyo/Rbpj^tm1Hon Tg(Tek-cre)12Flv/0	involves: 129P2/OlaHsd * C3H * C57BL/6	MGI:3056465
cx5	Efnb2^tm1And/Efnb2^+ Rbpj^tm1Kyo/Rbpj^tm1Kyo	involves: 129S2/SvPas * 129S7/SvEvBrd	MGI:3056464

Genotype
MGI:3713641

hm1

• Allelic Composition: Rbpj^tm1Kyo/Rbpj^tm1Kyo
• Genetic Background: involves: 129S2/SvPas

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

cardiovascular system

abnormal myocardium layer morphology ( J:119151 )

• the endocardium does not surround the myocardium, which shows irregular thickness

trabecula carnea hypoplasia ( J:119151 )

disorganized myocardium ( J:119151 )

• less-structured myocardium

abnormal fetal cardiomyocyte proliferation ( J:119151 )

• decrease in cardiomyocyte proliferation at E9.5

muscle

abnormal myocardium layer morphology ( J:119151 )

• the endocardium does not surround the myocardium, which shows irregular thickness

trabecula carnea hypoplasia ( J:119151 )

disorganized myocardium ( J:119151 )

• less-structured myocardium

abnormal fetal cardiomyocyte proliferation ( J:119151 )

• decrease in cardiomyocyte proliferation at E9.5

immune system

abnormal humoral immune response ( J:123631 )

• following exposure to Schistosoma mansoni soluble egg antigen, the T helper 2-dependent antibody production is abrogated

decreased interleukin-4 secretion ( J:123631 )

• following exposure to Schistosoma mansoni soluble egg antigen, IL-4 secretion is abolished

abnormal response to infection ( J:123631 )

• following exposure to Schistosoma mansoni soluble egg antigen, the T helper 2-dependent antibody production and IL-4 secretion are abrogated

cellular

abnormal fetal cardiomyocyte proliferation ( J:119151 )

• decrease in cardiomyocyte proliferation at E9.5

Genotype
MGI:2166381

hm2

• Allelic Composition: Rbpj^tm1Kyo/Rbpj^tm1Kyo
• Genetic Background: involves: 129S2/SvPas * C57BL/6

mortality/aging

embryonic lethality between somite formation and embryo turning, complete penetrance ( J:57072 )

• embryos die at around E8.5-E9.5

cardiovascular system

abnormal blood vessel morphology ( J:93125 )

• the vascular network is very primitive at E9.5

abnormal dorsal aorta morphology ( J:93125 )

• some embryos have more caudal fusions of the dorsal aorta to the common cardinal vein

abnormal placental labyrinth vasculature morphology ( J:93125 )

• mutant blood vessels do not readily penetrate the labyrinthine layer of the placenta

abnormal vascular regression ( J:93125 )

• defects in vascular remodeling are seen

abnormal anterior cardinal vein morphology ( J:93125 )

• the distal outflow tract is connected to the anterior cardinal vein by an anastamoses

abnormal common cardinal vein morphology ( J:93125 )

• some embryos also have more caudal fusions of the dorsal aorta to the common cardinal vein

arteriovenous malformation ( J:93125 )

embryo

abnormal placental labyrinth vasculature morphology ( J:93125 )

• mutant blood vessels do not readily penetrate the labyrinthine layer of the placenta

embryonic growth retardation ( J:93125 )

• severe embryonic growth retardation is seen at E9.5

decreased spongiotrophoblast size ( J:93125 )

• the spongiotrophoblast layer is reduced

abnormal vitelline vascular remodeling ( J:93125 )

• the yolk sac primary plexus is not remodeled at E9.5

growth/size/body

embryonic growth retardation ( J:93125 )

• severe embryonic growth retardation is seen at E9.5

cellular

abnormal vascular regression ( J:93125 )

• defects in vascular remodeling are seen

Genotype
MGI:6236251

ht3

• Allelic Composition: Rbpj^tm1Kyo/Rbpj⁺
• Genetic Background: involves: 129S2/SvPas * CD-1

cardiovascular system

abnormal aortic valve morphology ( J:187551 )

• collagen distribution is extended all over the valve area in mice fed a hypercholesterolemic diet supplemented with vitamin D (HCVD), indicating aortic valve fibrosis

thick aortic valve cusps ( J:187551 )

• mice exhibit increased leaflet thickness at 16 weeks on the HCVD diet

calcified aortic valve ( J:187551 )

• mice fed the HCVD diet exhibit extensive aortic valve leaflet calcification and develop calcific aortic disease after 16 weeks on this diet

cardiac fibrosis ( J:187551 )

• mice fed the HCVD diet develop aortic valve fibrosis

decreased cardiac muscle contractility ( J:187551 )

• mice exhibit lower fractional shortening and ejection fraction after 4 months on the HCVD diet than wild-type mice on the same diet

abnormal heart echocardiography feature ( J:187551 )

• after 4 months of a hypercholesterolemic diet supplemented with vitamin D (HCVD), mice exhibit a higher aortic valve maximum velocity measured by echocardiography and higher transvalvular maximum velocity measured by continuous-wave Doppler imaging and lower ejection fraction velocity ratio values than controls

heart inflammation ( J:187551 )

• mice fed the HCVD diet exhibit increased aortic valve inflammation, showing increased macrophage infiltration in the leaflets

aortic valve inflammation ( J:187551 )

• mice exhibit increased aortic valve inflammation when fed the HCVD diet, showing increased macrophage infiltration in the leaflets

immune system

heart inflammation ( J:187551 )

• mice fed the HCVD diet exhibit increased aortic valve inflammation, showing increased macrophage infiltration in the leaflets

aortic valve inflammation ( J:187551 )

• mice exhibit increased aortic valve inflammation when fed the HCVD diet, showing increased macrophage infiltration in the leaflets

muscle

decreased cardiac muscle contractility ( J:187551 )

• mice exhibit lower fractional shortening and ejection fraction after 4 months on the HCVD diet than wild-type mice on the same diet

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
aortic valve disease		DOID:62		J:187551

Genotype
MGI:3056465

cn4

• Allelic Composition: Rbpj^tm1Kyo/Rbpj^tm1Hon; Tg(Tek-cre)12Flv/0
• Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

cardiovascular system

abnormal dorsal aorta morphology ( J:93125 )

• the diameter of the dorsal aorta is reduced at E9.5

abnormal vascular regression ( J:93125 )

• at E9.5 PECAM-1 staining revealed a complete lack of vascular remodeling

abnormal anterior cardinal vein morphology ( J:93125 )

• the distal outflow tract is connected to the anterior cardinal vein by an anastamoses

abnormal common cardinal vein morphology ( J:93125 )

• some embryos also have more caudal fusions of the dorsal aorta to the common cardinal vein

absent vitelline blood vessels ( J:93125 )

• an avascular yolk is seen at E9.5

arteriovenous malformation ( J:93125 )

pericardial effusion ( J:93125 )

• pericardial effusion is seen at E9.5

embryo

absent vitelline blood vessels ( J:93125 )

• an avascular yolk is seen at E9.5

embryonic growth retardation ( J:93125 )

• embryonic growth retardation is seen at E9.5

growth/size/body

embryonic growth retardation ( J:93125 )

• embryonic growth retardation is seen at E9.5

homeostasis/metabolism

pericardial effusion ( J:93125 )

• pericardial effusion is seen at E9.5

cellular

abnormal vascular regression ( J:93125 )

• at E9.5 PECAM-1 staining revealed a complete lack of vascular remodeling

Genotype
MGI:3056464

cx5

• Allelic Composition: Efnb2^tm1And/Efnb2⁺; Rbpj^tm1Kyo/Rbpj^tm1Kyo
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd

cardiovascular system

abnormal vascular development ( J:93125 )

• arterial specification of developing blood vessels is lost