All Phenotypes Hmgcs2<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Hmgcs2⁺
wild type
MGI:2432855

Summary

2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Hmgcs2^em1(IMPC)Tcp/Hmgcs2⁺	C57BL/6NCrl-Hmgcs2^em1(IMPC)Tcp	MGI:7329792
ht2	Hmgcs2^tm1Yil/Hmgcs2⁺	Not Specified	MGI:8159405

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hmgcs2^em1(IMPC)Tcp mutation (2 available); any Hmgcs2 mutation (33 available)

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

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

Allelic Composition	Hmgcs2^tm1Yil/Hmgcs2⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hmgcs2^tm1Yil mutation (0 available); any Hmgcs2 mutation (33 available)

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

normal phenotype

no abnormal phenotype detected ( J:280699 )

• at 3-6 months of age, heterozygotes show no differences in body weight, non-fasting blood glucose levels, serum ketone body (beta-hydroxybutyrate, betaOHB) levels, small intestine length, and crypt depth in proximal jejunum relative to wild-type controls

• Hmgcs2-expressing (Hmgcs2-lacZ+) crypt epithelial cells possess functional stem cell activity in organoid clonogenic assays

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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