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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Acacbtm1Sjw
targeted mutation 1, Salih J Wakil
MGI:2679547
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Acacbtm1Sjw/Acacbtm1Sjw Not Specified MGI:2679552


Genotype
MGI:2679552
hm1
Allelic
Composition
Acacbtm1Sjw/Acacbtm1Sjw
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acacbtm1Sjw mutation (0 available); any Acacb mutation (109 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
• in the nourished state, mutant livers contain 20% less glycogen than wild-type livers
• in the 24-hr-fasted state, wild-type livers contain abundant glycogen, whereas mutant livers contain very little or no detectable glycogen
• mutant livers contain 80-90% less triglycerides than wild-type livers

adipose tissue
• homozygotes contain a reduced amount of white fat under their skin (33.6 g weight) relative to wild-type (34.2 g weight)
• on average, homozygotes accumulate 50% less fat in their adipose tissues than wild-type

behavior/neurological
• on average, homozygotes fed a standard diet ad liberatum consume 20-30% more food than wild-type mice

cellular
• homozygotes exhibit a significant increase in mitochondrial beta-oxidation of fatty acids in the skeletal muscle
• in the mutant soleus muscle, the fatty acid oxidation rate is 30% higher and is not affected by addition of insulin; in contrast, addition of insulin to wild-type muscle reduces fatty acid oxidation by 45%

growth/size/body
• when fed a standard diet ad liberatum, homozygotes weigh about 10% less than wild-type mice

homeostasis/metabolism
• on a standard diet, homozygotes exhibit a 20% reduction in serum glucose levels relative to wild-type
• homozygotes display a 30% reduction in plasma leptin relative to wild-type
• although hyperphagic, homozygotes are able to maintain or even lose body weight, suggesting that they expend energy at an increased rate
• homozygotes exhibit 10- and 30-fold lower levels of malonyl-CoA in heart and skeletal muscle, respectively
• in the nourished state, mutant livers contain 20% less glycogen than wild-type livers
• in the 24-hr-fasted state, wild-type livers contain abundant glycogen, whereas mutant livers contain very little or no detectable glycogen
• mutant livers contain 20% less lipid than wild-type livers
• despite their lipid store depletion, homozygotes appear grossly normal, grow at the expected rate, and breed normally
• homozygotes exhibit a significant increase in mitochondrial beta-oxidation of fatty acids in the skeletal muscle
• in the mutant soleus muscle, the fatty acid oxidation rate is 30% higher and is not affected by addition of insulin; in contrast, addition of insulin to wild-type muscle reduces fatty acid oxidation by 45%
• on a standard diet, serum levels of the ketone bodies (beta-hydroxybutyrate) are nearly absent in both wild-type and mutant mice
• in homozygotes, an overnight fast results in a 4-fold increase in the serum levels of ketone bodies, consistent with a higher fatty acid oxidation rate
• on a standard diet, homozygotes display a 30% increase in serum triglyceride levels relative to wild-type
• in mutants, fatty acid stores in adipose tissue and liver are significantly reduced (in adipose tissue by 50%), despite normal concentrations of malonyl-CoA
• on a standard diet, homozygotes display a reduction in serum free fatty acid levels relative to wild-type mice
• mutant livers contain 80-90% less triglycerides than wild-type livers

integument
• homozygotes contain a reduced amount of white fat under their skin (33.6 g weight) relative to wild-type (34.2 g weight)





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
11/19/2024
MGI 6.24
The Jackson Laboratory