Phenotypes associated with this allele

• Allele Symbol: Hmgcs2^em1(IMPC)Tcp
• Allele Name: endonuclease-mediated mutation 1, The Centre for Phenogenomics
• Allele ID: MGI:6324174
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hmgcs2^em1(IMPC)Tcp/Hmgcs2^em1(IMPC)Tcp	C57BL/6NCrl-Hmgcs2^em1(IMPC)Tcp	MGI:7329791
ht2	Hmgcs2^em1(IMPC)Tcp/Hmgcs2^+	C57BL/6NCrl-Hmgcs2^em1(IMPC)Tcp	MGI:7329792

Genotype
MGI:7329791

hm1

• Allelic Composition: Hmgcs2^em1(IMPC)Tcp/Hmgcs2^em1(IMPC)Tcp
• Genetic Background: C57BL/6NCrl-Hmgcs2^em1(IMPC)Tcp

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:326918 )

• mice exhibit increased mortality between P14 and P21

behavior/neurological

lethargy ( J:326918 )

• mice exhibit increased lethargy between P14 and P21

growth/size/body

increased body fat mass ( J:326918 )

• fat mass is slightly increased at P14

• 8-week-old mice fed a high-fat diet for 8 weeks show an increase in fat mass

decreased lean body mass ( J:326918 )

• mice show a decrease in lean mass at P14

decreased body weight ( J:326918 )

• mice show a lower body weight at P14

• early-wean mice exhibit slightly lower body weight with no difference in fat mass

slow postnatal weight gain ( J:326918 )

• mice show a mild, but significant, reduction in growth at P14 and show lower body weight

enlarged liver ( J:326918 )

• at P14

increased liver weight ( J:326918 )

• livers are heavier at P0 and P14

• early-wean mice show reduced liver weight

liver/biliary system

enlarged liver ( J:326918 )

• at P14

increased liver weight ( J:326918 )

• livers are heavier at P0 and P14

• early-wean mice show reduced liver weight

increased liver triglyceride level ( J:326918 )

• hepatic triglyceride levels are increased

• early-weaning lowers liver triglyceride levels

hepatic steatosis ( J:326918 )

• livers are fattier at P14

• mice weaned early (at P14) to achieve a transition from the high-fat, low-carbohydrate breast milk to low-fat, high-carbohydrate standard diet show a reduction in lipid accumulation in the liver; early weaning removes lipid droplets and lipid accumulation in the center of the liver, while leaving some at the periphery of the liver in the form of macrovesicular steatosis, indicating that a fat-enriched diet is required for fatty liver disease in mutants

microvesicular hepatic steatosis ( J:326918 )

• P14 livers show accumulation of small lipid droplets (microvascular steatosis) in hepatocytes

pale liver ( J:326918 )

• at P14

• early-wean mice show healthier livers

adipose tissue

increased body fat mass ( J:326918 )

• fat mass is slightly increased at P14

• 8-week-old mice fed a high-fat diet for 8 weeks show an increase in fat mass

homeostasis/metabolism

decreased circulating ketone body level ( J:326918 )

• the elevation of blood ketone levels seen in wild-type mice from P0 to P14 is not seen in mutant mice, indicating a functional knockout of ketogenesis

• the difference in ketone levels between P21 wild-type and mutant mice seen at sucking is decreased by early weaning

• however, no differences in blood glucose levels are seen

increased liver triglyceride level ( J:326918 )

• hepatic triglyceride levels are increased

• early-weaning lowers liver triglyceride levels

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
HMG-CoA synthase 2 deficiency		DOID:0081168	OMIM:605911	J:326918

Genotype
MGI:7329792

ht2

• Allelic Composition: Hmgcs2^em1(IMPC)Tcp/Hmgcs2⁺
• Genetic Background: C57BL/6NCrl-Hmgcs2^em1(IMPC)Tcp

growth/size/body

increased susceptibility to weight gain ( J:326918 )

• 8-week-old mice fed a high-fat diet for 8 weeks gain slightly more body weight than wild-type mice

• 8-week-old mice fed a high-fat diet for 8 weeks show an increase in fat mass

increased liver weight ( J:326918 )

• livers of 8-week-old mice are slightly heavier

homeostasis/metabolism

abnormal circulating ketone body level ( J:326918 )

• mice exhibit greater blood ketone levels than wild-type mice at P14 but are indistinguishable at weaning (P21)

• 8-week-old adult mice have lower fasting-induced blood ketone levels

• however, no differences in fed and fasted blood glucose levels are seen

liver/biliary system

increased liver weight ( J:326918 )

• livers of 8-week-old mice are slightly heavier

microvesicular hepatic steatosis ( J:326918 )

• livers of 8-week-old mice show greater microvesicular steatosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
HMG-CoA synthase 2 deficiency		DOID:0081168	OMIM:605911	J:326918