Mouse Genome Informatics
cn1
    Egln1tm2.1Fsl/Egln1tm2.1Fsl
Tg(Cdh5-cre)7Mlia/0

B6.Cg-Egln1tm2.1Fsl Tg(Cdh5-cre)7Mlia
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
• increased cardiac mass as compared to controls

mortality/aging
• less than half of mice survive to 6 months of age


Mouse Genome Informatics
cn2
    Jag1tm1Frad/Jag1tm1Frad
Tg(Cdh5-cre)7Mlia/0

B6.Cg-Jag1tm1Frad Tg(Cdh5-cre)7Mlia
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
N
• contrary to previous reports, viable mice are produced (J:166890)

cardiovascular system
• abnormal positioning of the aorta and pulmonary trunk
• abnormal positioning of the aorta and pulmonary trunk
• fragile and hemorrhaging in embryos and neonates
• thin and disorganized
• incomplete at E14.5
• large and hyperplastic (myxomatous)
• neonates exhibit bulges near the valve annulus
• cartilage nodules and calcification in the annulus of adults
• 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
• in right ventricle
• near the apex
• with severe regurgitation at the pulmonic valve

liver/biliary system
N
• mice exhibit normal bile duct formation (J:166890)

Mouse Models of Human Disease
OMIM IDRef(s)
Alagille Syndrome 1; ALGS1 118450 J:189213


Mouse Genome Informatics
cn3
    Jag1tm1Frad/Jag1tm1Frad
Tg(Cdh5-cre)7Mlia/0
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+

involves: 129 * 129S4/SvJaeSor * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
• 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


Mouse Genome Informatics
cn4
    Notch1tm1Agt/Notch1tm1Agt
Tg(Cdh5-cre)7Mlia/0
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+

involves: 129 * 129S4/SvJaeSor * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
• 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


Mouse Genome Informatics
cn5
    Jam3tm1.1Chav/Jam3tm1.2Chav
Tg(Cdh5-cre)7Mlia/?

involves: 129 * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
tumorigenesis
• significantly reduced B16 melanoma lung metastasis


Mouse Genome Informatics
cn6
    F8tm1.1Rmnt/F8tm1.1Rmnt
Tg(Cdh5-cre)7Mlia/0

involves: 129 * C57BL/6 * FVB/N * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism


Mouse Genome Informatics
cn7
    Ctnnb1tm2Kem/Ctnnb1tm2Kem
Ptentm1Hwu/Ptentm1Hwu
Tg(Cdh5-cre)7Mlia/0

involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/c * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• embryonic lethal


Mouse Genome Informatics
cn8
    Ctnnb1tm2Kem/Ctnnb1+
Ptentm1Hwu/Ptentm1Hwu
Tg(Cdh5-cre)7Mlia/0

involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/c * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• die before P68 with vascular complications

hematopoietic system
• 100% of mutants develop myeloproliferative disorder at about P30

cardiovascular system
• mutants exhibit vascular complication


Mouse Genome Informatics
cn9
    Rapgef2tm1.1Hous/Rapgef2tm1.1Hous
Tg(Cdh5-cre)7Mlia/0

involves: 129S1/Sv * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
N
• mice exhibit normal adult hematopoiesis (J:165879)

immune system
N
• mice exhibit normal B cell and T cell development (J:165879)


Mouse Genome Informatics
cn10
    Ptentm1Hwu/Ptentm1Hwu
Tg(Cdh5-cre)7Mlia/0

involves: 129S4/SvJae * BALB/c * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• 70% of mutants exhibit enlarged thymus
• progressive development of myeloproliferative disorder and leukemogenesis in the chronic phase followed by blast crisis
• 2-3 months after birth, mutants show increased circulating neutrophils and white blood cells and leukemic blast invasion into hematopoietic and non-hematopoietic organs
• one month after birth, mutants develop a myeloid shift with increased neutrophil counts
• splenomegaly

immune system
• 70% of mutants exhibit enlarged thymus
• 2-3 months after birth, mutants show increased circulating neutrophils and white blood cells and leukemic blast invasion into hematopoietic and non-hematopoietic organs
• one month after birth, mutants develop a myeloid shift with increased neutrophil counts
• splenomegaly
• 70% of mutants exhibit enlarged lymph nodes

liver/biliary system
• hepatomegaly

tumorigenesis
• 74% of mutants develop T-lymphoblastic leukemia
• 26% of mutants develop acute myeloid leukemia

endocrine/exocrine glands
• 70% of mutants exhibit enlarged thymus


Mouse Genome Informatics
cn11
    Dcbld2tm1Mhms/Dcbld2tm1.1Mhms
Tg(Cdh5-cre)7Mlia/0

involves: 129S6/SvEvTac * C57BL/6J * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
• reduced pericyte staining
• at P5, retinal blood vessels exhibit reduced total length and number of branches compared to in wild-type mice
• at P5, retinal blood vessels exhibit reduced total length and number of branches compared to in wild-type mice

vision/eye
• at P5, retinal blood vessels exhibit reduced total length and number of branches compared to in wild-type mice


Mouse Genome Informatics
cn12
    H2afxtm1Nus/H2afxtm2.1Fwa
Tg(Cdh5-cre)7Mlia/0

involves: 129S6/SvEvTac * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
• hypoxia induced retinal neovascularization is decreased compared to controls
• vascularization of implanted tumors is reduced compared to controls

tumorigenesis
• vascularization of implanted tumors is reduced compared to controls
• growth of implanted Lewis lung carcinomas is reduced compared to controls

vision/eye
• hypoxia induced retinal neovascularization is decreased compared to controls


Mouse Genome Informatics
cn13
    Pgrtm1.1Mlia/Pgrtm1.1Mlia
Tg(Cdh5-cre)7Mlia/0

involves: 129X1/SvJ * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
reproductive system
• 43% reduction in the number of implantation sites compared to controls (J:205553)
• change in permeability of uterine vasculature following hormone treatment (E2 + P4) is significantly reduced (J:205553)
• increase in albumin extravasation during pregnancy is significantly reduced (J:205553)

cardiovascular system
• changes in permeability of uterine vasculature following hormone treatment (E2 + P4) and during pregnancy are significantly reduced (J:205553)


Mouse Genome Informatics
cn14
    Epn1tm1.1Wami/Epn1tm1.1Wami
Epn2tm1Ocr/Epn2tm1Ocr
Tg(Cdh5-cre)7Mlia/0

involves: C57BL/6J * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
tumorigenesis
• mice transplanted with Lewis Lung carcinoma (LLC) cells develop fewer tumors that grow at a slower rate compared with control mice


Mouse Genome Informatics
tg15
    Tg(Cdh5-cre)7Mlia/0
involves: FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
normal phenotype
• mice are viable and fertile; no phenotypic abnormalities are detected