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

♀	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

decreased lung 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

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

increased circulating corticosterone level ( J:93296 )

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

hypoxia ( J:93296 )

decreased sterol level ( J:93296 )

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

decreased lung 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

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

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

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 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

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24