Phenotypes associated with this allele

• Allele Symbol: Emc6^em1Xjz
• Allele Name: endonuclease-mediated mutation 1, Xianjun Zhu
• Allele ID: MGI:8402975
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Emc6^em1Xjz/Emc6^em1Xjz Speer6-ps1^Tg(Alb-cre)21Mgn/Speer6-ps1^+	involves: C57BL/6 * C57BL/6J * DBA	MGI:8402982

Genotype
MGI:8402982

cn1

• Allelic Composition: Emc6^em1Xjz/Emc6^em1Xjz; Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺
• Genetic Background: involves: C57BL/6 * C57BL/6J * DBA

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

liver/biliary system

enlarged liver ( J:378400 )

• at 16 months of age

liver edema ( J:378400 )

• moderate liver edema at 2.5 months of age

liver inflammation ( J:378400 )

• extensive inflammatory infiltration at 13 months of age

dark liver ( J:378400 )

• deep brown hue

abnormal liver nodule incidence ( J:378400 )

• irregular surface and texture with numerous nodules at 16 months of age

abnormal liver parenchyma morphology ( J:378400 )

• structural disarray, hyperplasia, and exudation of the liver lobules

abnormal liver lobule morphology ( J:378400 )

• exudation of the liver lobules with binucleated and inflammatory cell infiltration in the portal areas at 4 and 10 months of age

abnormal hepatocyte morphology ( J:378400 )

• hepatocytes display mild to moderate dilation and disorganization of the endoplasmic reticulum

abnormal hepatocyte mitochondrial morphology ( J:378400 )

• swollen mitochondria are occasionally seen

increased hepatocellular carcinoma incidence ( J:378400 )

• by 16 months of age spontaneous hepatocellular carcinoma lesions are seen

• tumor nodules display invasive growth with irregular margins infiltrating adjacent parenchyma

liver fibrosis ( J:378400 )

• periportal fibrosis emerges by 10 months of age and progresses to severe bridging fibrosis at lesion margins by 16 months of age

homeostasis/metabolism

increased circulating bilirubin level ( J:378400 )

• total bilirubin is increased at 10, 13, and 16 months of age

• direct bilirubin is increased at 13 and 16 months of age

increased circulating cholesterol level ( J:378400 )

• increased total cholesterol levels in the serum at 10 and 16 months of age

increased circulating triglyceride level ( J:378400 )

• transient increases at 2.5, 10, and 13 months of age

increased circulating alanine transaminase level ( J:378400 )

• at 2.5 and 16 months of age, reaching maximal increase at 16 months of age

increased circulating alkaline phosphatase level ( J:378400 )

• at 2.5 and 16 months of age, reaching maximal increase at 16 months of age

increased circulating aspartate transaminase level ( J:378400 )

• at 2.5 and 16 months of age, reaching maximal increase at 16 months of age

increased circulating lactate dehydrogenase level ( J:378400 )

• starting at 13 months of age with a peak at 16 months of age

liver edema ( J:378400 )

• moderate liver edema at 2.5 months of age

increased bile salt level ( J:378400 )

• persistent accumulation in total bile acids across all time points

neoplasm

increased hepatocellular carcinoma incidence ( J:378400 )

• by 16 months of age spontaneous hepatocellular carcinoma lesions are seen

• tumor nodules display invasive growth with irregular margins infiltrating adjacent parenchyma

growth/size/body

enlarged liver ( J:378400 )

• at 16 months of age

cellular

abnormal hepatocyte mitochondrial morphology ( J:378400 )

• swollen mitochondria are occasionally seen

immune system

liver inflammation ( J:378400 )

• extensive inflammatory infiltration at 13 months of age