Phenotypes Associated with This Genotype

Genotype
MGI:6356371

• Allelic Composition: Jag1^Ndr/Jag1^Ndr
• Genetic Background: involves: C3HeB/FeJ * C57BL/6

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

mortality/aging

lethality, incomplete penetrance ( J:277897 )

• Background Sensitivity: mice are recovered at a rate of 20% at E15.5, 10% from P10, and 5% in adults on a mixed C3HeB/FeJ and C57BL/6 background compared to 100% lethality around E12 on a C3HeB/FeJ background

premature death ( J:277897 )

• mice are recovered at a rate of 5% in adults

lethality throughout fetal growth and development, incomplete penetrance ( J:277897 )

• mice are recovered at a rate of 20% at E15.5

postnatal lethality, incomplete penetrance ( J:277897 )

• 20% of mice die within the first 20 days

growth/size/body

short snout ( J:277897 )

• mice show a tendency toward altered craniofacial proportions, with a reduced snout length but normal eye-nose length

• however, no obvious vertebral malformations are seen

decreased body size ( J:277897 )

• adults are 30% smaller than control adults

decreased body weight ( J:277897 )

slow postnatal weight gain ( J:277897 )

• mice fail to gain weight as rapidly as controls after birth, with a significant difference from P2

cardiovascular system

abnormal liver vasculature morphology ( J:277897 )

• persistent absence of hepatic arteries

atrial septal defect ( J:277897 )

• atrial septation defects are present in E15.5 and P0 mice

ventricular septal defect ( J:277897 )

• ventricular septation defects are present in E15.5 and P0 mice

craniofacial

short snout ( J:277897 )

• mice show a tendency toward altered craniofacial proportions, with a reduced snout length but normal eye-nose length

• however, no obvious vertebral malformations are seen

digestive/alimentary system

abnormal feces composition ( J:277897 )

• postnatal pups excrete yellow stools

endocrine/exocrine glands

abnormal bile duct morphology ( J:277897 )

• postnatal mice exhibit ductopenia which is no longer seen in adults

• hilar portal regions have no discernible mature bile ducts at P0 while 3.3% of wild-type hilar portal veins have adjoining mature bile ducts

• at P10, bile ducts are rarely found in livers, while portal veins in wild-type livers have 1-2 adjacent mature bile ducts

• lumenized bile ducts are seen in adult livers, however their morphology is disrupted

• adult mice have fewer well-formed bile ducts and instead have clusters of biliary cells

abnormal bile duct development ( J:277897 )

• marker analysis indicates that bile duct differentiation is dysregulated in newborns

abnormal cholangiocyte morphology ( J:277897 )

• marker analysis indicates aberrations in cholangiocyte polarity

homeostasis/metabolism

increased circulating bilirubin level ( J:277897 )

• increase in direct bilirubin levels at P10, which are normal in adults

increased circulating alkaline phosphatase level ( J:277897 )

• increase in alkaline phosphatase levels at P10, which are normal in adults

increased circulating aspartate transaminase level ( J:277897 )

• increase in aspartate aminotransferase levels at P10 and in adults

decreased circulating serum albumin level ( J:277897 )

• decrease in albumin levels at P10

liver/biliary system

abnormal bile duct morphology ( J:277897 )

• postnatal mice exhibit ductopenia which is no longer seen in adults

• hilar portal regions have no discernible mature bile ducts at P0 while 3.3% of wild-type hilar portal veins have adjoining mature bile ducts

• at P10, bile ducts are rarely found in livers, while portal veins in wild-type livers have 1-2 adjacent mature bile ducts

• lumenized bile ducts are seen in adult livers, however their morphology is disrupted

• adult mice have fewer well-formed bile ducts and instead have clusters of biliary cells

abnormal bile duct development ( J:277897 )

• marker analysis indicates that bile duct differentiation is dysregulated in newborns

abnormal cholangiocyte morphology ( J:277897 )

• marker analysis indicates aberrations in cholangiocyte polarity

abnormal liver morphology ( J:277897 )

• liver organoids grow less well in culture, with some collapsing in culture after 5-6 days, indicating structural instability

abnormal liver vasculature morphology ( J:277897 )

• persistent absence of hepatic arteries

abnormal liver physiology ( J:277897 )

• serum biochemistry at P10 indicates that liver function is compromised

• however, adult mice have functional recovery of the liver, indicating a transient biliary phenotype

jaundice ( J:277897 )

• neonates exhibit strong jaundice, however surviving adults are not jaundiced

vision/eye

abnormal iris morphology ( J:277897 )

• bilateral iris deformation with dorsal constriction at E13.5, which progresses to severe deformities and occasionally microphthalmia by P10

small lens ( J:277897 )

• lenses are slightly smaller at P10

microphthalmia ( J:277897 )

• occasional microphthalmia is seen by P10, and in 30% of adults

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alagille syndrome		DOID:9245	OMIM:118450 OMIM:610205	J:277897