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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Dhcr7tm1Gst
targeted mutation 1, G S Tint
MGI:2387406
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Dhcr7tm1Gst/Dhcr7tm1Gst B6.129P2-Dhcr7tm1Gst MGI:3774001
hm2
Dhcr7tm1Gst/Dhcr7tm1Gst involves: 129P2/OlaHsd MGI:3620629
cx3
Dhcr7tm1Gst/Dhcr7tm1Gst
Tg(APOE-DHCR7)2Hoyu/0
involves: 129P2/OlaHsd * C57BL * C57BL/6J * FVB/N MGI:3819689


Genotype
MGI:3774001
hm1
Allelic
Composition
Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic
Background
B6.129P2-Dhcr7tm1Gst
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dhcr7tm1Gst mutation (1 available); any Dhcr7 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Small size and lung abnormalities in Dhcr7tm1Gst/Dhcr7tm1Gst mice

mortality/aging
• die within 24 hours and most within 14 hours of birth

growth/size/body
• growth retardation beginning at E14.5-E16.5

respiratory system
• marker analysis indicates a delay in lung vascular development, with an undeveloped pulmonary capillary bed at E20.5
• lungs exhibit delayed differentiation of type I alveolar epithelial cells (AEC), however differentiation of type II AECs is normal
• lungs show varying severity of impaired pre-alveolar development, including delayed saccular development from E17.5 onwards
• lungs exhibit delayed expansion of epithelial tubules
• lungs exhibit less septation compared to controls
• cell proliferation is reduced in distal lungs at E18.5 and E20.5
• lungs exhibit a delay in differentiation of type I alveolar epithelial cells (AEC) as indicated by fewer flattened type I cells annd reduced expression of type I AEC markers
• breathing is irregular and shallow
• breathing frequency is slower
• breathing is irregular and shallow, with long periods of apnea

behavior/neurological
• lack of spontaneous movement in newborns

cardiovascular system
• marker analysis indicates a delay in lung vascular development, with an undeveloped pulmonary capillary bed at E20.5

homeostasis/metabolism
• total sterols at birth are reduced in lungs by about 30%
• plasma corticosterone levels in P0 mutants is increased by about 40%
• cholesterol content in lungs remains at almost constant low levels between E13.5 and P0 instead of increasing as in controls




Genotype
MGI:3620629
hm2
Allelic
Composition
Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dhcr7tm1Gst mutation (1 available); any Dhcr7 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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
• levels of HMG-CoA reductase protein are reduced
• 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
• decrease in total sterol levels in the brain and liver
• decrease in cholesterol levels in the brain
• decrease in cholesterol levels in liver
• HMG-CoA reductase activities are reduced 6-fold in the liver and 2.7-fold in brain microsomes

respiratory system
• compact lungs with sparse, unconnected air spaces
• lungs of newborns are similar in appearance to normal 15- to 16-gestational day mice, suggesting that lungs may be immature
• 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

behavior/neurological
• none of the pups suckle
• lack movement shortly after birth

growth/size/body
• 12% exhibit cleft palate

renal/urinary system
• 90% exhibit greatly distended urinary bladder

craniofacial
• 12% exhibit cleft palate

digestive/alimentary system
• 12% exhibit cleft palate

liver/biliary system
• decrease in cholesterol levels in liver

nervous system
• 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




Genotype
MGI:3819689
cx3
Allelic
Composition
Dhcr7tm1Gst/Dhcr7tm1Gst
Tg(APOE-DHCR7)2Hoyu/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dhcr7tm1Gst mutation (1 available); any Dhcr7 mutation (27 available)
Tg(APOE-DHCR7)2Hoyu mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within 48 hours of birth

homeostasis/metabolism
• cholesterol levels in the lungs are 80% to 90% of normal
• cholesterol levels are improved compared to in Dhcr7tm1Gst homozygotes but still less than in wild-type mice
• cholesterol levels in the brain are decreased
• cholesterol levels in liver are 80% to 90% of normal

respiratory system
• mice exhibit reduced sac space formation and thickening of the pre-alveolar septae that is not as severe as in Dhcr7tm1Gst homozogotes

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

muscle
• in some mice

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

nervous system
• cholesterol levels in the brain are decreased





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
05/10/2022
MGI 6.19
The Jackson Laboratory