Mouse Genome Informatics
hm
    Startm1Klp/Startm1Klp
involves: 129P2/OlaHsd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Histology of the adrenal gland from wild type and Startm1Klp/Startm1Klp mice

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
• at 8 weeks of age lipid deposits were evident, primarily in stromal cells (J:64337)
• at 24 weeks of age ovaries were enlarged and contained few follicles (J:64337)
(J:43589)
(J:64337)
• at birth and 8 weeks of age (J:43589)
• at 4 and 8 weeks of age (J:43589)
• testes were grossly normal but showed lipid deposition within the steroidogenic interstitial region as early as E14.5 (J:43589)
• 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) (J:64337)

growth/size

homeostasis/metabolism

reproductive system
• at 8 weeks of age lipid deposits were evident, primarily in stromal cells (J:64337)
• at 24 weeks of age ovaries were enlarged and contained few follicles (J:64337)
(J:43589)
(J:64337)
• at birth and 8 weeks of age (J:43589)
• at 4 and 8 weeks of age (J:43589)
• testes were grossly normal but showed lipid deposition within the steroidogenic interstitial region as early as E14.5 (J:43589)
• 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) (J:64337)
• sexually immature (J:64337)
• at 4 weeks of age (corticosteroid replacement regimen), delayed germ cell maturation and increased apoptosis in developing spermatocytes (J:64337)
• testes are located in the inguinal canal (J:43589)
• testes are located in the inguinal canal (J:64337)

Mouse Models of Human Disease
OMIM IDRef(s)
Lipoid Congenital Adrenal Hyperplasia; LCAH 201710 J:43589 , J:55588 , J:64337