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Phenotypes Associated with This Genotype
Genotype
MGI:3606188
Allelic
Composition
Hsd11b1tm1Yko/Hsd11b1tm1Yko
Genetic
Background
involves: 129P2/OlaHsd * MF1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hsd11b1tm1Yko mutation (0 available); any Hsd11b1 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Hsd11b1tm1Yko/Hsd11b1tm1Ykomice show lipid accumulation in the liver

homeostasis/metabolism
• reduced amniotic fluid lecithin/sphingomyelin ratios
• lower glucose levels while fasting (J:37960)
• hypoglycemia only in fasting mice initially maintained on a high fat diet (J:45085)
• combining fasting with environmental stress also lowered circulating glucose (J:45085)
• liver glycogen levels are significantly elevated when fed
• 30% higher than controls
• plasma levels 42% lower than controls
• decrease associated with the VLDL fraction
• recovery of triglyceride levels occurs more quickly after fasting
• increased in vitro basal secretion and after ACTH stimulation (J:45085)
• basal plasma levels nearly double controls but peak levels unchanged from controls (J:67184)

endocrine/exocrine glands
• adrenocortical hyperplasia (J:37960)
• enlarged male adrenal glands (J:45085)

respiratory system
• impaired fetal lung maturation
• reduced lung surfactant protein-A (SP-A) mRNA and protein levels
• reduced amniotic fluid lecithin/sphingomyelin ratios
• reduced number and density of surfactant complexes in the alveoli
• normally developed alveoli but with type II pneumocytes interposed in alveolar septa
• many alveoli lack lamellar bodies by E19
• only a few lamellar bodies can be found in the alveolar lumen
• these are smaller and their density is low
• reduced lung surfactant protein-A (SP-A) mRNA and protein levels
• reduced number and density of surfactant complexes in the alveoli

behavior/neurological
• improved performance of older mice in cued plateform watermaze test relative to aged controls

nervous system
• significantly less retention of corticosterone
• significantly less retention of corticosterone

adipose tissue
• less accumulation of visceral fat on a high fat diet
• increased size of epididymal fat pad

liver/biliary system
• liver glycogen levels are significantly elevated when fed
• increased accumulation of lipid in the liver of fasted mutants; this lipid accumulation is resolved upon refeeding

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cortisone reductase deficiency 2 DOID:0090140 OMIM:614662
J:37960 , J:45085 , J:72402


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/16/2021
MGI 6.16
The Jackson Laboratory