All Phenotypes Dhcr7<tm1Gst> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dhcr7^tm1Gst/Dhcr7^tm1Gst	B6.129P2-Dhcr7^tm1Gst	MGI:3774001
hm2	Dhcr7^tm1Gst/Dhcr7^tm1Gst	involves: 129P2/OlaHsd	MGI:3620629
cx3	Dhcr7^tm1Gst/Dhcr7^tm1Gst Tg(APOE-DHCR7)2Hoyu/0	involves: 129P2/OlaHsd * C57BL * C57BL/6J * FVB/N	MGI:3819689

Allelic Composition	Dhcr7^tm1Gst/Dhcr7^tm1Gst
Genetic Background	B6.129P2-Dhcr7^tm1Gst

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dhcr7^tm1Gst mutation (1 available); any Dhcr7 mutation (34 available)

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

Small size and lung abnormalities in Dhcr7^tm1Gst/Dhcr7^tm1Gst mice

mortality/aging

neonatal lethality, complete penetrance ( J:93296 )

• die within 24 hours and most within 14 hours of birth

growth/size/body

decreased birth body size ( J:93296 )

• at birth

fetal growth retardation ( J:93296 )

• growth retardation beginning at E14.5-E16.5

respiratory system

abnormal lung morphology ( J:93296 )

abnormal lung vasculature morphology ( J:93296 )

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

abnormal lung development ( J:93296 )

• lungs exhibit delayed differentiation of type I alveolar epithelial cells (AEC), however differentiation of type II AECs is normal

abnormal lung saccule morphology ( J:93296 )

• lungs show varying severity of impaired pre-alveolar development, including delayed saccular development from E17.5 onwards

abnormal lung epithelium morphology ( J:93296 )

• lungs exhibit delayed expansion of epithelial tubules

small lung ( J:93296 )

decreased lung weight ( J:93296 )

pulmonary hypoplasia ( J:93296 )

abnormal pulmonary alveolus morphology ( J:93296 )

• lungs exhibit less septation compared to controls

• cell proliferation is reduced in distal lungs at E18.5 and E20.5

abnormal type I pneumocyte morphology ( J:93296 )

• 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

abnormal breathing pattern ( J:93296 )

• breathing is irregular and shallow

decreased pulmonary respiratory rate ( J:93296 )

• breathing frequency is slower

apnea ( J:93296 )

• breathing is irregular and shallow, with long periods of apnea

behavior/neurological

no spontaneous movement ( J:93296 )

• lack of spontaneous movement in newborns

cardiovascular system

abnormal lung vasculature morphology ( J:93296 )

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

homeostasis/metabolism

hypoxia ( J:93296 )

abnormal lipid level ( J:93296 )

• total sterols at birth are reduced in lungs by about 30%

increased circulating corticosterone level ( J:93296 )

• plasma corticosterone levels in P0 mutants is increased by about 40%

decreased cholesterol level ( J:93296 )

• cholesterol content in lungs remains at almost constant low levels between E13.5 and P0 instead of increasing as in controls

♀	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

Allelic Composition	Dhcr7^tm1Gst/Dhcr7^tm1Gst 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:
Dhcr7^tm1Gst mutation (1 available); any Dhcr7 mutation (34 available)
Tg(APOE-DHCR7)2Hoyu mutation (0 available)

♀	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 cholesterol level ( J:141730 )

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

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

respiratory system

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

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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