Phenotypes associated with this allele

• Allele Symbol: Abcc12^em1Yinc
• Allele Name: endonuclease-mediated mutation 1, Chunyue Yin
• Allele ID: MGI:8233518
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Abcc12^em1Yinc/Abcc12^em1Yinc	involves: C57BL/6J	MGI:8233521
ht2	Abcc12^em1Yinc/Abcc12^+	involves: C57BL/6J	MGI:8233528

Genotype
MGI:8233521

hm1

• Allelic Composition: Abcc12^em1Yinc/Abcc12^em1Yinc
• Genetic Background: involves: C57BL/6J

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

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:343988 )

N • similar to human patients, serum GGT levels are normal

increased circulating bilirubin level ( J:343988 )

• when fed a 1% cholic acid supplemented diet for 7 days increase in total bilirubin levels is greater than in diet matched wild-type controls

increased circulating alanine transaminase level ( J:343988 )

• in adults

• when fed a 1% cholic acid supplemented diet for 7 days increase in serum ALT levels is greater than in diet matched wild-type controls

increased circulating alkaline phosphatase level ( J:343988 )

• in adults

liver/biliary system

abnormal liver morphology ( J:343988 )

• patchy ductular reaction surrounding some portal triads at high magnification

• however, no significant steatosis, fibrosis, or necroinflammatory activity is seen at low magnification

abnormal intrahepatic bile duct morphology ( J:343988 )

• the number of well-formed bile ducts per portal triad is significantly decreased while the number of cell clusters is increased

• when fed a 1% cholic acid supplemented diet for 7 days ductular retraction is increased compared to diet matched wild-type controls

liver fibrosis ( J:343988 )

• when fed a 1% cholic acid supplemented diet for 7 days fibrosis is increased compared to diet matched wild-type controls

• however, on a normal diet no gross fibrosis is detected

abnormal bile duct physiology ( J:343988 )

• viability of primary cholangiocytes cultured with cholic acid is reduced at baseline compared to wild-type cells

increased cholangiocyte apoptosis ( J:343988 )

• in response to cholic acid either in vitro or in vivo

growth/size/body

increased susceptibility to weight loss ( J:343988 )

• when fed a 1% cholic acid supplemented diet for 7 days mutant mice show increased weight loss and higher liver/body weight ratio compared to diet matched wild-type controls

endocrine/exocrine glands

abnormal intrahepatic bile duct morphology ( J:343988 )

• the number of well-formed bile ducts per portal triad is significantly decreased while the number of cell clusters is increased

• when fed a 1% cholic acid supplemented diet for 7 days ductular retraction is increased compared to diet matched wild-type controls

cellular

increased cholangiocyte apoptosis ( J:343988 )

• in response to cholic acid either in vitro or in vivo

Genotype
MGI:8233528

ht2

• Allelic Composition: Abcc12^em1Yinc/Abcc12⁺
• Genetic Background: involves: C57BL/6J

homeostasis/metabolism

increased circulating bilirubin level ( J:343988 )

• when fed a 1% cholic acid supplemented diet for 14 days increase in total bilirubin levels is greater than in diet matched wild-type controls

liver/biliary system

abnormal bile duct physiology ( J:343988 )

• viability of primary cholangiocytes cultured with cholic acid is reduced at baseline compared to wild-type cells

• primary cholangiocytes show increased sensitivity to increasing concentrations of cholic acid compared to wild-type cells

increased cholangiocyte apoptosis ( J:343988 )

• in response to cholic acid either in vitro or in vivo

growth/size/body

increased susceptibility to weight loss ( J:343988 )

• when fed a 1% cholic acid supplemented diet for 14 days mutant mice show increased weight loss and higher liver/body weight ratio compared to diet matched wild-type controls

cellular

increased cholangiocyte apoptosis ( J:343988 )

• in response to cholic acid either in vitro or in vivo