Phenotypes Associated with This Genotype

Genotype
MGI:3819689

• Allelic Composition: Dhcr7^tm1Gst/Dhcr7^tm1Gst; Tg(APOE-DHCR7)2Hoyu/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL * C57BL/6J * FVB/N

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

mortality/aging

postnatal lethality, complete penetrance ( J:141730 )

• mice die within 48 hours of birth

homeostasis/metabolism

decreased circulating cholesterol level ( J:141730 )

• cholesterol levels are improved compared to in Dhcr7^tm1Gst homozygotes but still less than in wild-type mice

decreased brain cholesterol level ( J:141730 )

• cholesterol levels in the brain are decreased

decreased liver cholesterol level ( J:141730 )

• cholesterol levels in liver are 80% to 90% of normal

decreased lung cholesterol level ( J:141730 )

• cholesterol levels in the lungs are 80% to 90% of normal

respiratory system

decreased lung cholesterol level ( J:141730 )

• cholesterol levels in the lungs are 80% to 90% of normal

impaired lung alveolus development ( J:141730 )

• mice exhibit reduced sac space formation and thickening of the pre-alveolar septae that is not as severe as in Dhcr7^tm1Gst homozogotes

behavior/neurological

abnormal suckling reflex ( J:141730 )

• some mice exhibit poor suckling reflexes compared to in wild-type mice

muscle

hypotonia ( J:141730 )

• in some mice

liver/biliary system

decreased liver cholesterol level ( J:141730 )

• cholesterol levels in liver are 80% to 90% of normal

nervous system

decreased brain cholesterol level ( J:141730 )

• cholesterol levels in the brain are decreased