homeostasis/metabolism phenotype

• increased liver triglyceride level
  • mice raised on a low calorie diet exhibit increased hepatic triglyceride content
  (MGI Ref ID J:178241)

• increased circulating insulin level
  • fasted serum concentrations of 12 months old mutants raised on a high caloric diet are increased compared to wild-type mice on the same diet
  (MGI Ref ID J:178241)

• impaired glucose tolerance
  • impaired glycemic control
  (MGI Ref ID J:178241)

• increased circulating leptin level
  • fasted serum leptin levels are increased at 10-12 and 18 months of age in mutants raised on either the low calorie or high calorie diet
  (MGI Ref ID J:178241)

integument phenotype

• increased subcutaneous adipose tissue amount
  (MGI Ref ID J:178241)

liver/biliary system phenotype

• hepatic steatosis
  (MGI Ref ID J:178241)

• increased liver triglyceride level
  • mice raised on a low calorie diet exhibit increased hepatic triglyceride content
  (MGI Ref ID J:178241)

adipose tissue phenotype

• increased total body fat amount
  • mutants exhibit an accumulation of adipose mass, including an increase in visceral and subcutaneous fat compartments
  (MGI Ref ID J:178241)

• increased subcutaneous adipose tissue amount
  (MGI Ref ID J:178241)

behavior/neurological phenotype

• increased compensatory feeding amount
  • fasted and refed mutants display deficient postprandial satiation
  (MGI Ref ID J:178241)

• polyphagia
  • Normal - however, mutants exhibit normal lipid digestion, lipid absorption, distribution and clearance, normal energy mobilization and expenditure, normal circadian cycles and thermoregulatory reflexes to cold, indicating that an increase in caloric consumption is the probable cause of the excess adiposity
  (MGI Ref ID J:178241)
  • Normal - the probable cause of the excess adiposity
  (MGI Ref ID J:178241)
  • mutants are hyperphagic, independent of sex, dietary nutrients, or dietary caloric content
  (MGI Ref ID J:178241)

cardiovascular system phenotype

• increased heart weight
  (MGI Ref ID J:178241)

• cardiac hypertrophy
  • mean heart size in mice raised on either the low calorie or high calorie diet is increased compared to wild-type mice
  (MGI Ref ID J:178241)

growth/size/body region phenotype

• cardiac hypertrophy
  • mean heart size in mice raised on either the low calorie or high calorie diet is increased compared to wild-type mice
  (MGI Ref ID J:178241)

• increased body weight
  • females raised on the high calorie diet showed the highest weight increase, with mutants being 26.3% heavier than wild-type mice
  (MGI Ref ID J:178241)
  • mutants raised on a standard low calorie diet, moderate calorie diet, or high calorie diet exhibit an increased body weight compared to wild-type mice
  (MGI Ref ID J:178241)

• increased heart weight
  (MGI Ref ID J:178241)

digestive/alimentary phenotype

• diarrhea
  • following oral inoculation with 5 ug of cholera toxin, suckling homozygotes show normal fluid accumulation within the intestine (diarrhea), as determined by gut/carcass weight ratio
  (MGI Ref ID J:43046)

immune system phenotype

• decreased susceptibility to bacterial infection
  • following inoculation with enterotoxigenic E. coli strain 1676 by gavage, homozygotes failed to develop signs of diarrhea, indicating resistance to enterotoxigenic bacteria that produce heat stable enteroxins
  (MGI Ref ID J:43046)
  • in contrast, suckling homozygotes showed normal fluid accumulation within the intestine following oral inoculation with 5 ug of cholera toxin
  (MGI Ref ID J:43046)
  • following an oral inoculum of 10 U of E. coli heat-stable enterotoxin, 3-day suckling homozygotes failed to exhibit any fluid accumulation within the intestinal lumen, as determined by gut/carcass weight ratio
  (MGI Ref ID J:43046)

• decreased susceptibility to bacterial infection induced morbidity/mortality
  • following inoculation with a human enterotoxigenic E. coli strain (H10407) which does not colonize and infect mice, 23 of 26 homozygotes survived to weaning, while the remaining 3 died within 24 hrs of the gavage
  (MGI Ref ID J:43046)
  • following inoculation with enterotoxigenic E. coli strain 1676 by gavage, most homozygotes survived to weaning, whereas all wild-type and heterozygous controls died within 72 hrs of infection
  (MGI Ref ID J:43046)
  • only a small minority of homozygotes died within 24-72 hrs of administration of E. coli strain 1676; however, no diarrhea was observed and no cause of death was established
  (MGI Ref ID J:43046)

mortality/aging

• decreased susceptibility to bacterial infection induced morbidity/mortality
  • following inoculation with enterotoxigenic E. coli strain 1676 by gavage, most homozygotes survived to weaning, whereas all wild-type and heterozygous controls died within 72 hrs of infection
  (MGI Ref ID J:43046)
  • following inoculation with a human enterotoxigenic E. coli strain (H10407) which does not colonize and infect mice, 23 of 26 homozygotes survived to weaning, while the remaining 3 died within 24 hrs of the gavage
  (MGI Ref ID J:43046)
  • only a small minority of homozygotes died within 24-72 hrs of administration of E. coli strain 1676; however, no diarrhea was observed and no cause of death was established
  (MGI Ref ID J:43046)