mortality/aging
• ~40% died within 1 to 2 days after birth
|
• about 40 died within 8 to 10 days after birth
• no mice survived past 16 days of age without therapy
• mice survived up to 14 weeks on corticosteroid replacement regimen
|
endocrine/exocrine glands
• at 8 weeks (corticosteroid replacement regimen), lipid deposition had progressed but neither cholesterol crystals nor cortical hyperplasia were observed
• at 16 weeks (corticosteroid replacement regimen), lipid deposition had progressed further and cortical hyperplasia was evident
|
• cortex exhibited disrupted fascicular structure
• lipid deposition in the steroidogenic compartment
|
• at 16 weeks (corticosteroid replacement regimen), cortical hyperplasia was evident
|
(J:43589)
(J:64337)
|
• at birth and 8 weeks of age
|
• at 4 and 8 weeks of age
|
• at 8 weeks of age lipid deposits were evident, primarily in stromal cells
|
• at 24 weeks of age ovaries were enlarged and contained few follicles
|
• testes were grossly normal but showed lipid deposition within the steroidogenic interstitial region as early as E14.5
|
• lipid deposition within fetal leydig cells, as early as E14.5
(J:43589)
• at 8 weeks (corticosteroid replacement regimen), lipid deposits in adult leydig cells
(J:64337)
|
• evident at 8 weeks of age (corticosteroid replacement regimen)
|
growth/size/body
• at 24 weeks of age ovaries were enlarged and contained few follicles
|
homeostasis/metabolism
• in the pituitary
|
reproductive system
(J:43589)
(J:64337)
|
• at birth and 8 weeks of age
|
• at 4 and 8 weeks of age
|
• at 8 weeks of age lipid deposits were evident, primarily in stromal cells
|
• at 24 weeks of age ovaries were enlarged and contained few follicles
|
• testes were grossly normal but showed lipid deposition within the steroidogenic interstitial region as early as E14.5
|
• lipid deposition within fetal leydig cells, as early as E14.5
(J:43589)
• at 8 weeks (corticosteroid replacement regimen), lipid deposits in adult leydig cells
(J:64337)
|
• evident at 8 weeks of age (corticosteroid replacement regimen)
|
• sexually immature
|
• at 4 weeks of age (corticosteroid replacement regimen), delayed germ cell maturation and increased apoptosis in developing spermatocytes
|
• testes are located in the inguinal canal
(J:43589)
• testes are located in the inguinal canal
(J:64337)
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
congenital adrenal hyperplasia | DOID:0050811 |
OMIM:201710 OMIM:201810 OMIM:201910 OMIM:202010 OMIM:202110 |
J:43589 , J:55588 , J:64337 |