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Phenotypes Associated with This Genotype
Genotype
MGI:6719082
Allelic
Composition
Tjp1tm1.1Whun/Tjp1tm1.1Whun
Tjp2tm2Whun/Tjp2tm2Whun
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * C57BL/6NTac * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Speer6-ps1Tg(Alb-cre)21Mgn mutation (6 available); any Speer6-ps1 mutation (4 available)
Tjp1tm1.1Whun mutation (0 available); any Tjp1 mutation (43 available)
Tjp2tm2Whun mutation (0 available); any Tjp2 mutation (78 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 70-80% die by 4 weeks and all die by 6 weeks of age
• mice start to die around 2 weeks of age

growth/size/body
• mean liver weight-to-body weight ratio is increased

liver/biliary system
• marker analysis shows no, or rare, bile ducts in the periportal zone of the liver
• liver is yellowish
• targeting of tight junctions and apical molecules is disrupted in the liver
• marker analysis indicates that liver zonation is perturbed
• however, no liver inflammation or fibrosis are seen
• the lumina of the sinusoidal vessels are not clear
• marker analysis shows that sinusoidal vessels in the liver are injured
• mean liver weight-to-body weight ratio is increased
• the hepatic cords are not well-organized in the liver
• normal bile canaliculi are hardly seen
• individual hepatocytes appear slightly swollen with vacuole-like structures inside
• hepatocytes exhibit ectopic luminal structures around their basolateral domains
• hepatocyte cellular polarity is disrupted, with an unclear distinction between the apical and basolateral plasma membrane domains
• mice show disruption of the hepatic barrier
• bile transport into bile canaliculi is diminished
• mice show an increase in Ki-67+ hepatocytes, indicating increased hepatocyte proliferation

homeostasis/metabolism
• mice show increased levels of total bilirubin and direct bilirubin
• mice show increased levels of alkaline phosphatase
• however, gamma-glutamyl transferase levels are normal
• mice show increased levels of bile acids

cardiovascular system
• the lumina of the sinusoidal vessels are not clear
• marker analysis shows that sinusoidal vessels in the liver are injured

cellular
• mice show an increase in Ki-67+ hepatocytes, indicating increased hepatocyte proliferation

endocrine/exocrine glands
• marker analysis shows no, or rare, bile ducts in the periportal zone of the liver

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
progressive familial intrahepatic cholestasis 4 DOID:0070224 OMIM:615878
J:306936


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/03/2022
MGI 6.19
The Jackson Laboratory