Phenotypes Associated with This Genotype

Genotype
MGI:3042272

• Allelic Composition: Gh^Sma1/Gh^Sma1
• Genetic Background: C3HeB/FeJ-Gh^Sma1

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

adipose tissue

increased brown adipose tissue amount ( J:89518 )

• the percent body brown fat is significantly increased in homozygotes compared to heterozygous and wild-type mice

increased white adipose tissue amount ( J:89518 )

• the percent body white fat is significantly increased in homozygotes compared to heterozygous and wild-type mice at 5 to 6 months of age

endocrine/exocrine glands

abnormal adenohypophysis morphology ( J:89518 )

• the anterior lobe of the pituitary gland lacks acidophilic cells in homozygotes

absent lactotrophs ( J:89518 )

absent somatotrophs ( J:89518 )

small adenohypophysis ( J:89518 )

• the anterior lobe of the pituitary gland is disproportionately smaller than the posterior lobe

small pituitary gland ( J:89518 )

• the pituitary gland is smaller in size at 3 months in mutants compared to wild-type mice

decreased pituitary gland weight ( J:89518 )

• the pituitary gland is of reduced weight at 3 months in mutants compared to wild-type mice

growth/size/body

disproportionate dwarf ( J:89518 )

• homozygous mice do not undergo the peripubertal growth spurt resulting in a significant difference in body weight compared to wild-type mice by 12 weeks of age

• the heart, spleen, and paired kidneys are proportionally smaller in relation to body mass in mutants at 3 months in mutants compared to wild-type mice

liver/biliary system

small liver ( J:89518 )

• liver mass is disproportionately smaller in relation to body mass at 3 months in mutants compared to wild-type mice

reproductive system

delayed sexual maturation ( J:89518 )

• up to 3 months of age mutants appear pedomorphic resembling wild-type weanlings in appearance and behavior

delayed vaginal opening ( J:89518 )

• female sexual maturation is delayed by about 1 week in homozygotes compared to wild-type mice

reduced fertility ( J:89518 )

• the number of litters with no surviving pups is significantly increased in crosses between homozygotes compared to crosses between wild-type mice

• median litter size at weaning is reduced in crosses between homozygotes compared to crosses between wild-type mice

reduced female fertility ( J:89518 )

♀ • maximal litter size is decreased in crosses involving female homozygotes

nervous system

abnormal adenohypophysis morphology ( J:89518 )

• the anterior lobe of the pituitary gland lacks acidophilic cells in homozygotes

absent lactotrophs ( J:89518 )

absent somatotrophs ( J:89518 )

small adenohypophysis ( J:89518 )

• the anterior lobe of the pituitary gland is disproportionately smaller than the posterior lobe

small pituitary gland ( J:89518 )

• the pituitary gland is smaller in size at 3 months in mutants compared to wild-type mice

decreased pituitary gland weight ( J:89518 )

• the pituitary gland is of reduced weight at 3 months in mutants compared to wild-type mice

homeostasis/metabolism

increased circulating ghrelin level ( J:89518 )

• plasma ghrelin levels are significantly higher at 2-3 months in mutant mice compared to wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
isolated growth hormone deficiency type II		DOID:0060872	OMIM:173100	J:89518