Phenotypes Associated with This Genotype

Genotype
MGI:5447165

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

• ♀: 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

liver/biliary system

liver hemorrhage ( J:166890 )

• multifoci

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

hepatic necrosis ( J:166890 )

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