Phenotypes Associated with This Genotype

Genotype
MGI:3606188

• Allelic Composition: Hsd11b1^tm1Yko/Hsd11b1^tm1Yko
• Genetic Background: involves: 129P2/OlaHsd * MF1

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Hsd11b1^tm1Yko/Hsd11b1^tm1Ykomice show lipid accumulation in the liver

homeostasis/metabolism

abnormal amniotic fluid composition ( J:80523 )

• reduced amniotic fluid lecithin/sphingomyelin ratios

abnormal glucose homeostasis ( J:37960 )

decreased circulating glucose level ( J:37960 , J:45085 )

• 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)

improved glucose tolerance ( J:72402 )

increased liver glycogen level ( J:45085 )

• liver glycogen levels are significantly elevated when fed

abnormal lipid homeostasis ( J:72402 )

abnormal circulating cholesterol level ( J:72402 )

increased circulating cholesterol level ( J:72402 )

increased circulating HDL cholesterol level ( J:72402 )

• 30% higher than controls

decreased circulating triglyceride level ( J:72402 )

• plasma levels 42% lower than controls

• decrease associated with the VLDL fraction

• recovery of triglyceride levels occurs more quickly after fasting

abnormal corticosterone level ( J:45085 , J:67184 )

• 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

enlarged adrenal glands ( J:37960 , J:45085 )

• adrenocortical hyperplasia (J:37960)

• enlarged male adrenal glands (J:45085)

respiratory system

abnormal lung development ( J:80523 )

• 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

abnormal pulmonary alveolus morphology ( J:80523 )

• normally developed alveoli but with type II pneumocytes interposed in alveolar septa

absent alveolar lamellar bodies ( J:80523 )

• many alveoli lack lamellar bodies by E19

decreased alveolar lamellar body number ( J:80523 )

• only a few lamellar bodies can be found in the alveolar lumen

• these are smaller and their density is low

small alveolar lamellar bodies ( J:80523 )

decreased surfactant secretion ( J:80523 )

• reduced lung surfactant protein-A (SP-A) mRNA and protein levels

• reduced number and density of surfactant complexes in the alveoli

behavior/neurological

abnormal spatial learning ( J:68825 )

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

nervous system

abnormal brainstem morphology ( J:68825 )

• significantly less retention of corticosterone

abnormal hippocampus morphology ( J:68825 )

• significantly less retention of corticosterone

adipose tissue

abnormal abdominal fat pad morphology ( J:89080 )

• less accumulation of visceral fat on a high fat diet

abnormal epididymal fat pad morphology ( J:89080 )

• increased size of epididymal fat pad

liver/biliary system

increased liver glycogen level ( J:45085 )

• liver glycogen levels are significantly elevated when fed

hepatic steatosis ( J:72402 )

• 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