Phenotypes Associated with This Genotype

Genotype
MGI:6108884

• Allelic Composition: Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺; Trmu^tm1Tomik/Trmu^tm1Tomik
• Genetic Background: involves: C57BL/6 * DBA

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

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:235644 )

N • glutathione level in liver

N • cysteine level in liver

N • lactate dehydrogenase level in 16-week old mice

abnormal homeostasis ( J:235644 )

• in serum of 3-week old mice

decreased circulating creatinine level ( J:235644 )

increased circulating lactate level ( J:235644 )

decreased circulating cholesterol level ( J:235644 )

decreased circulating HDL cholesterol level ( J:235644 )

decreased circulating calcium level ( J:235644 )

increased circulating alanine transaminase level ( J:235644 )

• in serum of 3-week old and 16-week old mice

decreased circulating amylase level ( J:235644 )

increased circulating aspartate transaminase level ( J:235644 )

• in serum of 3-week old and 16-week old mice

increased circulating lactate dehydrogenase level ( J:235644 )

decreased circulating serum albumin level ( J:235644 )

abnormal nucleotide metabolism ( J:235644 )

• in hepatocytes

• absence of s2U (2-thiouridine) modification of mitochondrial Glu-, Gln- and Lys-tRNAs

• tau-m5U (5-taurinomethyluridine) modification of mitochondrial Glu-, Gln- and Lys-tRNAs

• increased mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine) modification of cytosolic tRNAs

• increased ms2i6A (2-methylthio-N6-isopentenyladenosine) modification of mitochondrial tRNAs

cellular

increased cell nucleus count ( J:235644 )

• in hepatocytes

increased hepatocyte karyomegaly ( J:235644 )

• in 3-week old and 16-week old mice

abnormal hepatocyte mitochondrial morphology ( J:235644 )

• inner vacuole with multiple membrane layers in some hepatocytes

• very low electron density (in electron microscopy) in some hepatocytes

increased mitochondrial DNA content ( J:235644 )

• up-regulated mt-DNA copy number (relative to nuclear) in 16-week old mice

abnormal mitochondrial crista morphology ( J:235644 )

• abnormally swollen or absent cristae

increased mitochondrial size ( J:235644 )

• mitochondrial area 4.3-fold larger in hepatocytes

abnormal mitochondrial physiology ( J:235644 )

• reduced translation of proteins larger than 25 kDa in hepatocytes

• slightly increased translation of proteins smaller than 25 kDa in hepatocytes

• impaired formation and/or activity of respiratory complexes I, III and IV in hepatocytes

abnormal tricarboxylic acid cycle ( J:235644 )

• significant increase of citrate synthase activity in liver

liver/biliary system

increased hepatocyte karyomegaly ( J:235644 )

• in 3-week old and 16-week old mice

abnormal hepatocyte mitochondrial morphology ( J:235644 )

• inner vacuole with multiple membrane layers in some hepatocytes

• very low electron density (in electron microscopy) in some hepatocytes

hepatic necrosis ( J:235644 )

• spotty necrosis in 3-week old and 16-week old mice

immune system

abnormal inflammatory response ( J:235644 )

• infiltration of macrophages in the liver of 3-week old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
liver disease		DOID:409		J:235644