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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Slc25a45em1Brsy
endonuclease-mediated mutation 1, Kivanc Birsoy
MGI:8262722
Summary 2 genotypes


Genotype
MGI:8262945
hm1
Allelic
Composition		 Slc25a45em1Brsy/Slc25a45em1Brsy
Genetic
Background		 C57BL/6J-Slc25a45em1Brsy
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc25a45em1Brsy mutation (0 available); any Slc25a45 mutation (24 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal amino acid derivative level ( J:374674 )
• the [M+9] carnitine abundance is reduced in the liver and kidneys
• livers from fasted mice show reduced levels of carnitine and propionylcarnitine
• livers from fasted mice show reductions in several mid-to-long-chain acylcarnitines
decreased circulating carnitine level ( J:374674 )
• mice injected with labeled trimethyllysine (TML) show up to a 35-fold decrease in incorporation of TML into carnitine species resulting in decreased serum carnitine [M+9] levels and acetylcarnitine [M+9] levels
abnormal amino acid metabolism ( J:374674 )
• mice fed a vegetarian chow for 2 weeks to minimize exogenous carnitine intake show altered serum levels of monomethyllysine (MML) and dimethyllysine (DML) indicating changes in the levels of methylated amino acids
• mice show impaired carnitine biosynthesis and trimethyllysine (TML) incorporation
• deoxycarnitine levels, a downstream product of TML in the carnitine biosynthesis pathway, are reduced
• mice fail to mount the fasting-induced increase in acetylcarnitine, indicating potential carnitine limitation




Genotype
MGI:8262947
cx2
Allelic
Composition		 Gt(ROSA)26Sortm1(CAG-EGFP)Brsy/Gt(ROSA)26Sor+
Slc25a45em1Brsy/Slc25a45em1Brsy
Genetic
Background		 B6.Cg-Gt(ROSA)26Sortm1(CAG-EGFP)Brsy Slc25a45em1Brsy
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(CAG-EGFP)Brsy mutation (1 available); any Gt(ROSA)26Sor mutation (1046 available)
Slc25a45em1Brsy mutation (0 available); any Slc25a45 mutation (24 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal amino acid metabolism ( J:374674 )
• mitochondria exhibit reduced levels of trimethyllysine (TML) and asymmetric dimethylarginine (ADMA) along with a decrease in saccharopine, an intermediate in lysine degradation, indicating impaired mitochondrial import of methylated amino acids
• fasted mice show a depletion of hepatic guanidinoacetate, a mitochondrial intermediate of arginine metabolism and creatine biosynthesis




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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Send questions and comments to User Support. 		last database update
09/30/2025
MGI 6.24 		The Jackson Laboratory