- abnormal circulating cholesterol level / MGI
- enlarged liver / MGI
- hepatic necrosis / MGI
- increased circulating alkaline phosphatase level / MGI
- abnormal bile composition / MGI
- increased fatty acid level / MGI
- decreased fatty acid level / MGI
- decreased triglyceride level / MGI
- increased sensitivity to induced morbidity/mortality / MGI
- decreased total body fat amount / MGI
- increased susceptibility to weight loss / MGI
B6.129-Amacrtm1Jkh/Oulu
Status | Available to order |
EMMA ID | EM:08305 |
International strain name | B6.129-Amacrtm1Jkh/Oulu |
Alternative name | Amacr |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Amacrtm1Jkh |
Gene/Transgene symbol | Amacr |
Information from provider
Provider | Kalervo Hiltunen |
Provider affiliation | Faculty of Biochemistry and Molecular Medicine, University of Oulu |
Genetic information | Exons 1-3 and introns 1-2 of Amacr gene are replaced with the neomycin-resistance gene by homologous recombination. |
Phenotypic information | Homozygous:No clinical phenotype on standard laboratory conditions, lack of mature bile acids and accumulation of bile acid intermediates. On phytol enriched diet mice develop liver failure and death.Heterozygous:No phenotype on heterozygous mice. |
Breeding history | 10 backcrosses to C57BL/6 |
References |
|
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | University of Oulu, Oulu, Finland |
Animals used for archiving | homozygous C57BL/6JOlaHsd, wild-type C57BL/6JOlaHsd |
Stage of embryos | 2-cell |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Congenital bile acid synthesis defect type 4 / Orphanet_79095
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- abnormal circulating cholesterol level / MGI
- enlarged liver / MGI
- hepatic necrosis / MGI
- increased circulating alkaline phosphatase level / MGI
- abnormal bile composition / MGI
- increased fatty acid level / MGI
- decreased fatty acid level / MGI
- decreased triglyceride level / MGI
- increased sensitivity to induced morbidity/mortality / MGI
- decreased total body fat amount / MGI
- increased susceptibility to weight loss / MGI
Literature references
- A mouse model for alpha-methylacyl-CoA racemase deficiency: adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids.;Savolainen Kalle, Kotti Tiina J, Schmitz Werner, Savolainen Teuvo I, Sormunen Raija T, Ilves Mika, Vainio Seppo J, Conzelmann Ernst, Hiltunen J Kalervo, ;2004;Human molecular genetics;13;955-65; 15016763
- Role of AMACR (α-methylacyl-CoA racemase) and MFE-1 (peroxisomal multifunctional enzyme-1) in bile acid synthesis in mice.;Autio Kaija J, Schmitz Werner, Nair Remya R, Selkälä Eija M, Sormunen Raija T, Miinalainen Ilkka J, Crick Peter J, Wang Yuqin, Griffiths William J, Reddy Janardan K, Baes Myriam, Hiltunen J Kalervo, ;2014;The Biochemical journal;461;125-35; 24735479
- Phytol is lethal for Amacr-deficient mice.;Selkälä Eija M, Nair Remya R, Schmitz Werner, Kvist Ari-Pekka, Baes Myriam, Hiltunen J Kalervo, Autio Kaija J, ;2015;Biochimica et biophysica acta;1851;1394-405; 26248199
- Metabolic adaptation allows Amacr-deficient mice to remain symptom-free despite low levels of mature bile acids.;Selkälä Eija M, Kuusisto Sanna M, Salonurmi Tuire, Savolainen Markku J, Jauhiainen Matti, Pirilä Päivi L, Kvist Ari-Pekka, Conzelmann Ernst, Schmitz Werner, Alexson Stefan E, Kotti Tiina J, Hiltunen J Kalervo, Autio Kaija J, ;2013;Biochimica et biophysica acta;1831;1335-43; 23680781
Information on how we integrate external resources can be found here
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).