Phenotypes associated with this allele

• Allele Symbol: Fbxl5^tm2.1Kei
• Allele Name: targeted mutation 2.1, Keiichi I Nakayama
• Allele ID: MGI:5295289
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Fbxl5^tm2.1Kei/Fbxl5^tm2.1Kei	involves: C57BL/6	MGI:5295291
cn2	Fbxl5^tm2.1Kei/Fbxl5^tm2.1Kei Speer6-ps1^Tg(Alb-cre)21Mgn/Speer6-ps1^+	involves: C57BL/6 * DBA	MGI:5295292

Genotype
MGI:5295291

cn1

• Allelic Composition: Fbxl5^tm2.1Kei/Fbxl5^tm2.1Kei
• Genetic Background: involves: C57BL/6

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

cellular

abnormal mitochondrial physiology ( J:176655 )

• decrease in basal ATP levels in MEFs infected with retroviral cre suggesting mitochondrial dysfunction

• under high iron conditions the decrease in ATP levels is more severe

oxidative stress ( J:176655 )

• in MEFs infected with retroviral cre

homeostasis/metabolism

abnormal iron level ( J:176655 )

• in MEFs infected with retroviral cre, cytosolic and mitochondrial iron levels are increased

Genotype
MGI:5295292

cn2

• Allelic Composition: Fbxl5^tm2.1Kei/Fbxl5^tm2.1Kei; Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺
• Genetic Background: involves: C57BL/6 * DBA

cellular

abnormal hepatocyte mitochondrial morphology ( J:176655 )

• mitochondriopathy associated with small lipid droplets

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:176655 )

• most mice die within 1 day of being placed on a high iron diet

• mice that survive more than 1 day on a high iron diet consume very little of the diet and die of starvation within 2 weeks

homeostasis/metabolism

increased circulating iron level ( J:176655 )

abnormal circulating enzyme level ( J:176655 )

increased circulating alanine transaminase level ( J:176655 )

• serum levels are elevated about 100 fold in mice on a high iron diet

increased circulating aspartate transaminase level ( J:176655 )

• serum levels are elevated about 100 fold in mice on a high iron diet

increased circulating lactate dehydrogenase level ( J:176655 )

• serum levels are elevated about 100 fold in mice on a high iron diet

decreased circulating unsaturated transferrin level ( J:176655 )

• elevated transferrin saturation

abnormal blood coagulation ( J:176655 )

increased partial thromboplastin time ( J:176655 )

• activated partial thromboplastin time issignificantly increased in mice on a high iron diet suggestive of a severe coagulopathy

increased prothrombin time ( J:176655 )

• prothrombin time is significantly increased in mice on a high iron diet suggestive of a severe coagulopathy

increased liver iron level ( J:176655 )

• accumulation of ferrous iron in hepatocytes

cardiovascular system

liver hemorrhage ( J:176655 )

• in mice on a high iron diet

liver/biliary system

increased liver iron level ( J:176655 )

• accumulation of ferrous iron in hepatocytes

abnormal hepatocyte morphology ( J:176655 )

• the cytoplasm is only weakly eosinophilic and contains numerous microvesicular vacuoles

• deposition of multiple small lipid droplets with an undisplaced nucleus are seen in liver cells

abnormal hepatocyte mitochondrial morphology ( J:176655 )

• mitochondriopathy associated with small lipid droplets

hepatic steatosis ( J:176655 )

• in mice on a high iron diet for 1 day

pale liver ( J:176655 )

abnormal liver physiology ( J:176655 )

liver hemorrhage ( J:176655 )

• in mice on a high iron diet

liver inflammation ( J:176655 )

• lobular infiltration of inflammatory cells (e.g. lymphocytes and neutrophils) indicating mild inflammation

liver failure ( J:176655 )

• elevation of hepatic and biliary tract enzymes in mice on a high iron diet is suggestive of acute progressive destruction of hepatocytes

• massive cell death, predominantly in the area around portal veins is seen in mice on a high iron diet

• addition of the antioxidant N-acetyl-L-cysteine to the water attenuates cell death in mice on a high iron diet

immune system

liver inflammation ( J:176655 )

• lobular infiltration of inflammatory cells (e.g. lymphocytes and neutrophils) indicating mild inflammation