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Phenotypes Associated with This Genotype
Genotype
MGI:2661899
Allelic
Composition
Startm1Klp/Startm1Klp
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Startm1Klp mutation (0 available); any Star mutation (1 available)
phenotype observed in females
phenotype observed in males
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 (J:43589)
• ~40% died within 1 to 2 days after birth (J:43589)
• about 40 died within 8 to 10 days after birth (J:43589)
• no mice survived past 16 days of age without therapy (J:43589)
• mice survived up to 14 weeks on corticosteroid replacement regimen (J:43589)
• about 40 died within 8 to 10 days after birth (J:43589)
• no mice survived past 16 days of age without therapy (J:43589)
• mice survived up to 14 weeks on corticosteroid replacement regimen (J:43589)

endocrine/exocrine glands
• at 8 weeks (corticosteroid replacement regimen), lipid deposition had progressed but neither cholesterol crystals nor cortical hyperplasia were observed (J:43589)
• at 16 weeks (corticosteroid replacement regimen), lipid deposition had progressed further and cortical hyperplasia was evident (J:43589)
• at 8 weeks (corticosteroid replacement regimen), lipid deposition had progressed but neither cholesterol crystals nor cortical hyperplasia were observed (J:43589)
• at 16 weeks (corticosteroid replacement regimen), lipid deposition had progressed further and cortical hyperplasia was evident (J:43589)
• cortex exhibited disrupted fascicular structure (J:43589)
• lipid deposition in the steroidogenic compartment (J:43589)
• cortex exhibited disrupted fascicular structure (J:43589)
• lipid deposition in the steroidogenic compartment (J:43589)
• at 16 weeks (corticosteroid replacement regimen), cortical hyperplasia was evident (J:43589)
• at 16 weeks (corticosteroid replacement regimen), cortical hyperplasia was evident (J:43589)
(J:43589)
(J:43589)
(J:64337)
(J:64337)
• at birth and 8 weeks of age (J:43589)
• at birth and 8 weeks of age (J:43589)
(J:64337)
(J:64337)
• at 4 and 8 weeks of age (J:43589)
• at 4 and 8 weeks of age (J:43589)
• at 8 weeks of age lipid deposits were evident, primarily in stromal cells (J:64337)
• at 8 weeks of age lipid deposits were evident, primarily in stromal cells (J:64337)
(J:64337)
(J:64337)
• at 24 weeks of age ovaries were enlarged and contained few follicles (J:64337)
• at 24 weeks of age ovaries were enlarged and contained few follicles (J:64337)
• testes were grossly normal but showed lipid deposition within the steroidogenic interstitial region as early as E14.5 (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)
• 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)
• 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)
• evident at 8 weeks of age (corticosteroid replacement regimen) (J:64337)

growth/size/body

homeostasis/metabolism
• in the pituitary (J:43589)
• in the pituitary (J:43589)

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

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory