Mouse Genome Informatics
cn1
    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
cn2
    Jag1tm1Frad/Jag1tm1Frad
Tg(Tagln-cre)1Her/0

B6.Cg-Jag1tm1Frad Tg(Tagln-cre)1Her
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• most mice die within 2 days of birth with few surviving beyond 4 weeks
• most mice die within 2 days of birth with few surviving beyond 4 weeks

liver/biliary system
• multifoci
• absent or incompletely formed bile ducts near the portal veins
• biliary epithelial cells are unable to organize into tubules; portal vein mesenchyme is reduced
• epithelial cells fail to aggregate
• accumulation of bile in liver parenchyma
• at birth

homeostasis/metabolism
• total and conjugated
• increased circulating gamma-glutamyl transferase

growth/size/body
• at birth and in mice that survive beyond 4 weeks, worsening over time

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

cardiovascular system
• multifoci

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

endocrine/exocrine glands
• absent or incompletely formed bile ducts near the portal veins
• biliary epithelial cells are unable to organize into tubules; portal vein mesenchyme is reduced
• epithelial cells fail to aggregate

Mouse Models of Human Disease
OMIM IDRef(s)
Alagille Syndrome 1; ALGS1 118450 J:166890


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
    Jag1tm1Frad/Jag1tm1Frad
Tg(Mx1-cre)1Cgn/0

involves: 129 * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
N
• homozygous mutant mice exhibit normal hematopoiesis, including normal hematopoietic stem cell self-renewal and differentiation (J:98129)


Mouse Genome Informatics
cn5
    Jag1tm1Frad/Jag1tm1Frad
Notch1tm1Agt/Notch1tm1Agt
Tg(Mx1-cre)1Cgn/0

involves: 129 * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
N
• homozygous mutant mice exhibit normal hematopoiesis, including normal hematopoietic stem cell self-renewal and differentiation (J:98129)


Mouse Genome Informatics
cn6
    Dll1tm1Mjo/Dll1tm1Mjo
Jag1tm1Frad/Jag1+
Tg(Six2-EGFP/cre)1Amc/0

involves: 129/Sv * C57BL/6 * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
renal/urinary system
• nephron number is severely compromised, but some podocytes form


Mouse Genome Informatics
cn7
    Dll1tm1Mjo/Dll1tm1Mjo
Jag1tm1Frad/Jag1tm1Frad
Tg(Six2-EGFP/cre)1Amc/0

involves: 129/Sv * C57BL/6 * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
renal/urinary system
• almost all nephrons are absent


Mouse Genome Informatics
cn8
    Dll1tm1Mjo/Dll1+
Jag1tm1Frad/Jag1tm1Frad
Tg(Six2-EGFP/cre)1Amc/0

involves: 129/Sv * C57BL/6 * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
renal/urinary system
• podocytes are almost entirely absent; one allele of Dll1 cannot support podocyte production


Mouse Genome Informatics
cn9
    Dll1tm1Mjo/Dll1+
Jag1tm1Frad/Jag1+
Tg(Six2-EGFP/cre)1Amc/0

involves: 129/Sv * C57BL/6 * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
renal/urinary system
N
• nephron development appears essentially normal (J:198632)


Mouse Genome Informatics
cn10
    Jag1tm1Frad/Jag1tm1Frad
Tg(Six2-EGFP/cre)1Amc/0

involves: 129/Sv * C57BL/6 * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
renal/urinary system
• nephron number is highly reduced


Mouse Genome Informatics
cn11
    Jag1tm1Frad/Jag1+
Tg(Six2-EGFP/cre)1Amc/0

involves: 129/Sv * C57BL/6 * CD-1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
renal/urinary system
N
• nephron development appears essentially normal (J:198632)