C57BL/6N-A^tm1Brd Mto1^{tm1a(EUCOMM)Wtsi}/WtsiOulu

Status	Available to order
EMMA ID	EM:14063
Citation information	RRID:IMSR_EM:14063 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	C57BL/6N-A^tm1Brd Mto1^{tm1a(EUCOMM)Wtsi}/WtsiOulu
Alternative name	EPD0431_2_B10
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Mto1^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Mto1
Disclaimer	Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA: We can not guarantee a null mutation for Knock-out first alleles (tm1a alleles, see http://www.mousephenotype.org/about-ikmc/targeting-strategies) as the critical exon has not been deleted. That the structure of the targeted mutation in the ES cells obtained from EUCOMM/KOMP to generate EUCOMM/KOMP mice is not verified by INFRAFRONTIER/EMMA. It is recommended that the recipient confirms the mutation structure. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA. The level of quality control before mice are released is to confirm the individual mouse genotype by short range PCR.

Information from provider

Provider	Wellcome Trust Sanger Institute
Provider affiliation	Wellcome Trust Sanger Institute
Genetic information	This mouse line originates from EUCOMM ES clone EPD0431_2_B10. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic information	Potential phenotyping data in the IMPC portal
References	None available

Information from EMMA

Archiving centre	University of Oulu, Oulu, Finland

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency / Orphanet_314637

MGI phenotypes (gene matching)

decreased body weight / MGI
decreased anxiety-related response / MGI
hyperactivity / MGI
impaired coordination / MGI
decreased startle reflex / MGI
abnormal motor coordination/balance / MGI
irregular heartbeat / MGI
increased heart weight / MGI
prolonged QT interval / MGI
abnormal response to novel object / MGI
dilated sarcoplasmic reticulum / MGI
myocardial fiber degeneration / MGI
dilated heart / MGI
cardiomyopathy / MGI
decreased heart rate / MGI
abnormal mitochondrial physiology / MGI
increased physiological sensitivity to xenobiotic / MGI
ventricular premature beat / MGI
increased sensitivity to xenobiotic induced morbidity/mortality / MGI
abnormal behavioral response to anesthetic / MGI
increased grip strength / MGI
prolonged QRS complex duration / MGI
decreased QRS amplitude / MGI
atrioventricular block / MGI
sinoatrial block / MGI
cardiac muscle necrosis / MGI
abnormal mitochondrial inner membrane morphology / MGI
decreased mitochondrial DNA content / MGI

Information on how we integrate external resources can be found here

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^*
LacZ tagged null allele (tm1b allele), service fee and delivery time available upon request
Conditional ready allele (tm1c allele), service fee and delivery time available upon request
Reporterless null allele (tm1d allele), service fee and delivery time available upon request
Reporterless null allele (tm1d allele), service fee and delivery time available upon request

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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