Phenotypes Associated with This Genotype

Genotype
MGI:3033165

• Allelic Composition: Cpe^fat/Cpe^fat
• Genetic Background: BKSChpLt.HRS-Cpe^fat/J

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

adipose tissue

abnormal percent body fat/body weight ( J:10872 )

• noted in all adipose tissue of the body

digestive/alimentary system

decreased digestive secretion ( J:52393 )

• reduced gastric acid secretion and challenged gastrin release

endocrine/exocrine glands

abnormal pancreatic beta cell morphology ( J:24436 )

• the presence of immature secretory granules was noted

degranulated pancreatic beta cells ( J:10872 )

• some degranulation of beta cells was noted

pancreatic islet hyperplasia ( J:10872 )

• hypertrophy and hyperplasia of islets noted

growth/size/body

obese ( J:10872 )

• abnormal amounts of fat by 4-5 weeks of age; progressive with age; homozygotes weigh up to 60-70 grams by 6-8 months of age

homeostasis/metabolism

impaired adaptive thermogenesis ( J:80698 )

• homozygous mice cannot maintain the core body temperature upon exposure to cold temperature

hyperglycemia ( J:10872 )

• transient hyperglycemia noted in males at 7-8 weeks of age

• does not progress to severe diabetes

increased circulating cholesterol level ( J:18161 , J:19043 )

• increased by 50% over controls (J:18161)

• noted on a high fat diet compared to controls (J:19043)

increased circulating HDL cholesterol level ( J:18161 , J:19043 )

• increased 2 fold over controls (J:18161)

• noted on a high fat diet compared to controls (J:19043)

increased circulating LDL cholesterol level ( J:19043 )

• noted on a high fat diet compared to controls

increased circulating VLDL cholesterol level ( J:19043 )

• noted on a high fat diet compared to controls

increased circulating triglyceride level ( J:19043 )

• noted on a high fat diet compared to controls

abnormal hormone level ( J:80698 )

• thyrotropin-releasing hormone (TRH) is reduced in the hypothalamus by at least 75% compared to wild-type

• pro-thyrotropin-releasing hormone forms are increased due to impaired processing in the hypothalamus

• cold exposure depresses hypothalamic TRH levels even further, by about 38% compared to 13% in wild-type

increased circulating triiodothyronine level ( J:80698 )

• circulating T3 levels are significantly higher

• thyroid-stimulating hormone (TSH) concentrations are normal

decreased circulating gastrin level ( J:52393 )

• serum gastrin levels are lower than in wild-type after famotidine treatment to inhibit gastric acid secretion

increased circulating insulin level ( J:10872 , J:24436 )

• severe at weaning age (J:10872)

• hyperproinsulinemia was noted; a defect in hormone processing was demonstrated in vitro (J:24436)

decreased circulating adrenocorticotropin level ( J:40372 )

• due to poor processing of pro-opiomalanocortin

increased pituitary hormone level ( J:40372 )

• 24-fold increase in unprocessed pro-opiomelanocortin levels in the pituitary; poor processing to adrenocorticotropin and unregulated secretion of the unprocessed hormone

increased circulating pituitary hormone level ( J:38227 , J:40372 )

• unregulated secretion of unprocessed pro-opiomelanocortin (J:38227)

• pro-opiomalanocortin is constitutively secreted from the anterior pituitary resulting in elevated levels in the circulation (J:40372)

increased growth hormone level ( J:40372 )

• growth hormone is elevated in the anterior pituitary

increased circulating growth hormone level ( J:40372 )

• growth hormone is constitutively secreted from the anterior pituitary

reproductive system

infertility ( J:10872 )

• noted in older obese mice; homozygous mice can produce litters if mated before the onset of obesity

nervous system

abnormal hypothalamus secretion ( J:80698 )

• deficient processing and unregulated secretion of pro-thyrotrophin releasing hormone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
obesity		DOID:9970	OMIM:601665	J:10872