Phenotypes Associated with This Genotype

Genotype
MGI:6119462

• Allelic Composition: Tmem30a^tm1.1Xjz/Tmem30a^tm1.1Xjz; Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺
• Genetic Background: involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6J * DBA

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

liver/biliary system

bile duct proliferation ( J:249038 )

• according to Krt19 activity

liver inflammation ( J:249038 )

• significant lymphocyte and macrophage infiltration

• increased serum levels of Il6, Il18, Il10, Ifng, and Tnf

abnormal liver morphology ( J:249038 )

• more multinucleate hepatocytes and smaller hepatocytes when fed 0.5% sodium cholate-supplemented diet

decreased liver weight ( J:249038 )

• when fed 0.5% sodium cholate-supplemented diet

• when fed standard chow

liver fibrosis ( J:249038 )

• increased levels of Col1a1, Col3a1 and Tgfb

• exacerbated when fed 0.5% sodium cholate-supplemented diet

intrahepatic cholestasis ( J:249038 )

jaundice ( J:249038 )

• yellow serum at age 2 months on standard chow

• when fed 0.5% sodium cholate-supplemented diet

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:249038 )

N • serum gamma-glutamyl transferase levels

N • plasma creatinine, blood urea nitrogen, and uric acid levels on normal chow or 0.5% sodium cholate-supplemented diet

increased circulating bilirubin level ( J:249038 )

• exacerbated when fed 0.5% sodium cholate-supplemented diet

• approximately 15-fold higher serum total bilirubin (TBIL) levels

• mainly increase in direct bilirubin (DBIL) levels; indirect bilirubin (IBIL) levels only slightly increased

increased circulating alanine transaminase level ( J:249038 )

• exacerbated when fed 0.5% sodium cholate-supplemented diet

increased circulating aspartate transaminase level ( J:249038 )

• exacerbated when fed 0.5% sodium cholate-supplemented diet

increased bile salt level ( J:249038 )

• approximately 20-fold higher serum total bile acid (TBA) levels

• dramatically increased serum unconjugated and conjugated bile acid levels; only small changes in hepatic and biliary bile salt species

• exacerbated when fed 0.5% sodium cholate-supplemented diet

increased alkaline phosphatase activity ( J:249038 )

• elevated plasma Alpl levels

• exacerbated when fed 0.5% sodium cholate-supplemented diet

growth/size/body

growth/size/body region phenotype ( J:249038 )

N • cellular morphology of heart, kidney, lung, spleen, muscle, pancreas, and intestine when fed regular chow or 0.5% sodium cholate-supplemented diet

cachexia ( J:249038 )

• when fed 0.5% sodium cholate-supplemented diet

endocrine/exocrine glands

bile duct proliferation ( J:249038 )

• according to Krt19 activity

immune system

liver inflammation ( J:249038 )

• significant lymphocyte and macrophage infiltration

• increased serum levels of Il6, Il18, Il10, Ifng, and Tnf

behavior/neurological

slow movement ( J:249038 )

• when fed 0.5% sodium cholate-supplemented diet

skeleton

abnormal spine curvature ( J:249038 )

• when fed 0.5% sodium cholate-supplemented diet