Mouse Genome Informatics
hm
    GhSma1/GhSma1
C3HeB/FeJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
adipose tissue
• the percent body brown fat is significantly increased in homozygotes compared to heterozygous and wild-type mice
• 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
• the anterior lobe of the pituitary gland is disproportionately smaller than the posterior lobe and lacks acidophilic cells in homozygotes
• the pituitary gland is smaller in size and weight at 3 months in mutants compared to wild-type mice

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

reproductive system
• female sexual maturation is delayed by about 1 week in homozygotes compared to wild-type mice
• up to 3 months of age mutants appear pedomorphic resembling wild-type weanlings in appearance and behavior
• 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
• maximal litter size is decreased in crosses involving female homozygotes (J:89518)

nervous system
• the anterior lobe of the pituitary gland is disproportionately smaller than the posterior lobe and lacks acidophilic cells in homozygotes
• the pituitary gland is smaller in size and weight at 3 months in mutants compared to wild-type mice

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

Mouse Models of Human Disease
OMIM IDRef(s)
Isolated Growth Hormone Deficiency, Type II; IGHD2 173100 J:89518