All Phenotypes Hadha<tm1Jib> MGI Mouse

mortality/aging

neonatal lethality, complete penetrance ( J:69846 )

• most die within 24 hours of birth, all are dead by 36 hours

• death usually sudden but sometimes mice appear weak and cease to suckle before death

homeostasis/metabolism

abnormal blood homeostasis ( J:69846 )

decreased circulating carnitine level ( J:69846 )

• serum free carnitine levels significantly reduced

increased circulating carnitine level ( J:69846 )

• elevated C14-C18 serum acyl carnitines and fatty acids

increased blood urea nitrogen level ( J:69846 )

• modest to extreme increases in serum urea levels

increased circulating bilirubin level ( J:69846 )

• modest to extreme increases

hypoglycemia ( J:69846 )

• reduced serum glucose, particularly in mice with overt symptoms

increased circulating alanine transaminase level ( J:69846 )

• modest to extremely elevated serum alanine aminotransferase levels

abnormal urine homeostasis ( J:69846 )

• elevated C8-C14 urine dicarboxylic acids

liver/biliary system

enlarged liver ( J:69846 )

• normal size at birth

• diffuse liver enlargement develops rapidly

abnormal hepatocyte morphology ( J:69846 )

• fatty vacuolation

abnormal hepatocyte mitochondrial morphology ( J:69846 )

• swollen mitochondria

hepatic steatosis ( J:69846 )

• liver is normal at birth

• yellow hepatic discoloration develops rapidly

• moderate to severe hepatic lipidosis develops rapidly

muscle

abnormal myocardium layer morphology ( J:69846 )

• severe necrosis and vacuolation with acute degenerative changes in cardiac myocytes

abnormal diaphragm morphology ( J:69846 )

• severe necrosis and vacuolation with acute degenerative changes in diaphragm myocytes

growth/size/body

embryonic growth retardation ( J:69846 )

• reduced intrauterine growth