B6.129-Amacr^tm1Jkh/Oulu

Status	Available to order
EMMA ID	EM:08305
International strain name	B6.129-Amacr^tm1Jkh/Oulu
Alternative name	Amacr
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Amacr^tm1Jkh,
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	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
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

alpha-methylacyl-CoA racemase deficiency / DOID:0060602

Orphanet associated rare diseases, based on orthologous gene matching

Congenital bile acid synthesis defect type 4 / Orphanet_79095

MGI phenotypes (allele 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

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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B6.129-Amacrtm1Jkh/Oulu