Phenotypes Associated with This Genotype

Genotype
MGI:3037127

• Allelic Composition: Scg5^tm1Led/Scg5^tm1Led
• Genetic Background: either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * FVB) or (involves: 129S6/SvEvTac * C57BL/6)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:53349 )

• only about 11% survive to weaning

adipose tissue

abnormal adipose tissue distribution ( J:53349 , J:77510 )

• surviving mice show abnormal fat deposition on the back and around the neck (J:53349)

• retroperitoneal fat deposits (J:77510)

behavior/neurological

polyphagia ( J:77510 )

convulsive seizures ( J:77510 )

• convulsions occur just before death

cardiovascular system

abnormal cardiovascular system morphology ( J:77510 )

enlarged heart ( J:77510 )

dystrophic cardiac calcinosis ( J:77510 )

bruising ( J:53349 )

• mice are often easily bruised

hemorrhage ( J:53349 )

• often significant bleeding into the abdomen

hemothorax ( J:53349 )

endocrine/exocrine glands

abnormal gland morphology ( J:53349 )

abnormal adrenal gland morphology ( J:53349 )

adrenal cortical hyperplasia ( J:53349 )

abnormal pancreatic islet morphology ( J:53349 )

• increased beta and non-beta endocrine cell mass in the pancreas

increased pancreatic beta cell mass ( J:53349 )

pancreatic islet hyperplasia ( J:53349 )

• architecture of the islets is disrupted

small adenohypophysis ( J:77510 )

• hypotrophy of the anterior pituitary

cryptorchism ( J:77510 )

♂ • undescended testes frequently

growth/size/body

enlarged heart ( J:77510 )

decreased body size ( J:53349 )

• severely runted at 4-5 weeks of age

enlarged liver ( J:77510 )

• significant hepatomegaly

homeostasis/metabolism

increased circulating corticosterone level ( J:53349 )

• 4X increase in serum corticosterone

increased circulating lactate level ( J:77510 )

• increased lactate levels in plasma

decreased body temperature ( J:77510 )

• hypothermia occurs in the hours just before death

abnormal glucose homeostasis ( J:77510 )

• high levels of free tissue glucose in the liver and decreased free glucose in muscle

hypoglycemia ( J:53349 )

decreased circulating glucagon level ( J:53349 )

• mature glucagons are eliminated and only limited levels of intermediate products are found

abnormal circulating insulin level ( J:53349 )

• delayed conversion of proinsulin I and II with increased proinsulin levels

• increased circulating levels of insulin-like material

increased liver glycogen level ( J:77510 )

• liver glycogen levels increased 5X

increased adrenocorticotropin level ( J:53349 )

• levels were increased 10-20% in the pituitary

abnormal mineral level ( J:77510 )

• levels are significantly decreased in heart while liver and brain levels are increased 2X

decreased circulating magnesium level ( J:77510 )

• levels are significantly decreased in plasma

immune system

spleen atrophy ( J:53349 )

• spleen was 1/5 normal size with an abnormal architecture

• part of a generalized lymphoid atrophy

liver/biliary system

enlarged liver ( J:77510 )

• significant hepatomegaly

increased liver glycogen level ( J:77510 )

• liver glycogen levels increased 5X

hepatic necrosis ( J:77510 )

hepatic steatosis ( J:53349 , J:77510 )

• severe fat vacuolation and abnormal liver architecture (J:53349)

• yellow color to liver (J:77510)

reproductive system

cryptorchism ( J:77510 )

♂ • undescended testes frequently

respiratory system

hemothorax ( J:53349 )

abnormal respiration ( J:77510 )

respiratory distress ( J:77510 )

• mice suffer from labored respiration in the last day before dying

• experience shortness of breath just before death

nervous system

convulsive seizures ( J:77510 )

• convulsions occur just before death

small adenohypophysis ( J:77510 )

• hypotrophy of the anterior pituitary

integument

abnormal hair growth ( J:77510 )

alopecia ( J:77510 )

• regional hair loss

sparse hair ( J:77510 )

thin dermal layer ( J:53349 )

• dermal atrophy

hyperkeratosis ( J:53349 )

ecchymosis ( J:53349 )

• mice are often ecchymotic

pallor ( J:53349 )

• mice are pale

thin skin ( J:53349 )

• thinning skin

hematopoietic system

spleen atrophy ( J:53349 )

• spleen was 1/5 normal size with an abnormal architecture

• part of a generalized lymphoid atrophy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pituitary-dependent Cushing's disease		DOID:3946		J:77510