Phenotypes Associated with This Genotype

Genotype
MGI:3620629

• Allelic Composition: Dhcr7^tm1Gst/Dhcr7^tm1Gst
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

neonatal lethality, complete penetrance ( J:71611 , J:141730 )

• all die within 18 hours after birth, presumably from respiratory failure or dehydration (J:71611)

• all mice die within 24 hours of birth and most within 14 hour of birth (J:141730)

homeostasis/metabolism

abnormal enzyme/coenzyme level ( J:71611 )

• levels of HMG-CoA reductase protein are reduced

abnormal cholesterol homeostasis ( J:71611 )

• 30- to 40-fold elevation in 7-dehydrocholesterol (7DHC) levels in the brain and liver

• 7-dehydrodesmosterol is accumulated in the brain whereas desmosterol is not detected

abnormal lipid level ( J:71611 )

• decrease in total sterol levels in the brain and liver

decreased brain cholesterol level ( J:71611 )

• decrease in cholesterol levels in the brain

decreased liver cholesterol level ( J:71611 )

• decrease in cholesterol levels in liver

abnormal enzyme/coenzyme activity ( J:71611 )

• HMG-CoA reductase activities are reduced 6-fold in the liver and 2.7-fold in brain microsomes

respiratory system

abnormal lung morphology ( J:71611 )

• compact lungs with sparse, unconnected air spaces

abnormal lung development ( J:71611 )

• lungs of newborns are similar in appearance to normal 15- to 16-gestational day mice, suggesting that lungs may be immature

impaired lung alveolus development ( J:141730 )

• at E19.5, saccular formation is absent with the failure of pre-alveolar septae thinning and development of sac spaces unlike in wild-type mice

respiratory failure ( J:71611 )

behavior/neurological

absent suckling reflex ( J:71611 )

• none of the pups suckle

decreased locomotor activity ( J:71611 )

• lack movement shortly after birth

growth/size/body

cleft secondary palate ( J:71611 )

• 12% exhibit cleft palate

decreased birth weight ( J:71611 )

renal/urinary system

distended urinary bladder ( J:71611 )

• 90% exhibit greatly distended urinary bladder

craniofacial

cleft secondary palate ( J:71611 )

• 12% exhibit cleft palate

digestive/alimentary system

cleft secondary palate ( J:71611 )

• 12% exhibit cleft palate

liver/biliary system

decreased liver cholesterol level ( J:71611 )

• decrease in cholesterol levels in liver

nervous system

decreased brain cholesterol level ( J:71611 )

• decrease in cholesterol levels in the brain

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Smith-Lemli-Opitz syndrome		DOID:14692	OMIM:270400	J:71611