Phenotypes associated with this allele

• Allele Symbol: Mrs2^em1Muma
• Allele Name: endonuclease-mediated mutation 1, Muniswamy Madesh
• Allele ID: MGI:6514834
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mrs2^em1Muma/Mrs2^em1Muma	B6.Cg-Mrs2^em1Muma	MGI:6514892

Genotype
MGI:6514892

hm1

• Allelic Composition: Mrs2^em1Muma/Mrs2^em1Muma
• Genetic Background: B6.Cg-Mrs2^em1Muma

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

liver/biliary system

abnormal hepatocyte morphology ( J:298361 )

• more and smaller lipid droplets after 48h in vitro

• normal lipid droplets number after 24h in vitro

abnormal hepatocyte physiology ( J:298361 )

• no lactate- or LPS-induced Mg2+ uptake in mitochondria in vitro

• reduced mitochondrial ROS signal in vitro

• normal lactate accumulation after LPS exposure in vitro

• normal dose-dependent lactate-induced Mg2+ depletion in ER in vitro

• normal ionomycin and high glucose-induced Ca2+ uptake in mitochondria in vitro

cellular

abnormal mitochondrial shape ( J:298361 )

• longer and more filamentous in hepatocytes in vitro

increased mitochondrial number ( J:298361 )

• in hepatocytes in vitro

abnormal mitochondrial physiology ( J:298361 )

• no lactate- or LPS-induced Mg2+ uptake in hepatocyte mitochondria in vitro

• reduced ROS signal in hepatocytes in vitro

• increased basal and maximal oxygen consumption rate (OCR) in hepatocytes in vitro with or without lactate-induction

• normal oxidative phosphorylation complex abundance in hepatocytes in vitro

• normal ionomycin and high glucose-induced Ca2+ uptake in hepatocytes in vitro

abnormal redox activity ( J:298361 )

• reduced mitochondrial ROS signal in hepatocytes in vitro

homeostasis/metabolism

abnormal blood homeostasis ( J:298361 )

• reduced plasma lactase level with or without LPS challenge

• normal plasma glucose level

mortality/aging

prenatal lethality, incomplete penetrance ( J:298361 )

• mice are born at lower than expected Mendelian ratios

immune system

decreased susceptibility to endotoxin shock ( J:298361 )

• significant reduction of leukocyte infiltration in lungs after LPS challenge

• reduced pulmonary edema-like phenotype (alveolar space diameter reduction) after LPS challenge

• maintenance of normal body temperature (no reduction) after LPS challenge

• reduced proinflammatory cytokine levels after LPS challenge

• reduced creatinine and blood urea nitrogen levels after LPS challenge