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Phenotypes Associated with This Genotype
Genotype
MGI:7329791
Allelic
Composition
Hmgcs2em1(IMPC)Tcp/Hmgcs2em1(IMPC)Tcp
Genetic
Background
C57BL/6NCrl-Hmgcs2em1(IMPC)Tcp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hmgcs2em1(IMPC)Tcp mutation (2 available); any Hmgcs2 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice exhibit increased mortality between P14 and P21

behavior/neurological
• mice exhibit increased lethargy between P14 and P21

growth/size/body
• 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
• mice show a decrease in lean mass at P14
• mice show a lower body weight at P14
• early-wean mice exhibit slightly lower body weight with no difference in fat mass
• mice show a mild, but significant, reduction in growth at P14 and show lower body weight
• at P14
• livers are heavier at P0 and P14
• early-wean mice show reduced liver weight

liver/biliary system
• at P14
• livers are heavier at P0 and P14
• early-wean mice show reduced liver weight
• hepatic triglyceride levels are increased
• early-weaning lowers liver triglyceride levels
• 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
• P14 livers show accumulation of small lipid droplets (microvascular steatosis) in hepatocytes
• at P14
• early-wean mice show healthier livers

adipose tissue
• 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
• 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
• 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


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
03/19/2024
MGI 6.23
The Jackson Laboratory