CBA;B6-Mtm1^em1Flmg/Flmg

Status	Available to order
EMMA ID	EM:14680
Citation information	RRID:IMSR_EM:14680 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	CBA;B6-Mtm1^em1Flmg/Flmg
Alternative name	CBA;B6-Mtm1 em1(C375S)Flmg/Flmg
Strain type	Endonuclease-mediated
Allele/Transgene symbol	Mtm1^em1Flmg
Gene/Transgene symbol	Mtm1

Information from provider

Provider	Transgenic Facility B.S.R.C.
Provider affiliation	BSRC
Genetic information	Mice with a C375S single point mutation at the exon11 of the Mtm1 gene (X-linked) were generated, using CRISPR/Cas9 technology. A point mutation was introduced by an ssODN template, which contained the desired base substitution, and also introduced a new restriction site. The ssODN template along with the designed sgRNA and the wild-type Cas9 protein were introduced into embryos via the in situ electroporation method (Gonad method).
Phenotypic information	Homozygous: Unknown Heterozygous: To be determined
Breeding history	The colony has been maintained by backcrossing Mtm1 heterozygous mice to (C57BL/6 x CBA) F1 mice for two generations.
References	Lack of myotubularin phosphatase activity is the main cause of X-linked myotubular myopathy.;Moschovaki-Filippidou Foteini, Kretz Christine, Reiss David, Chicanne Gaëtan, Payrastre Bernard, Laporte Jocelyn, ;2025;JCI insight;10;; 41086017
Homozygous fertile	not known
Homozygous viable	not known
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	B.S.R.C. Alexander Fleming, Vari, Greece
Animals used for archiving	heterozygous (CBA x C57BL/6)F2 males

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

X-linked centronuclear myopathy / Orphanet_596

Literature references

Lack of myotubularin phosphatase activity is the main cause of X-linked myotubular myopathy.;Moschovaki-Filippidou Foteini, Kretz Christine, Reiss David, Chicanne Gaëtan, Payrastre Bernard, Laporte Jocelyn, ;2025;JCI insight;10;; 41086017

Information on how we integrate external resources can be found here

Order

Availabilities

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

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), as well as a CRISPR surcharge.

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

Right strain for your research?

The information provided on this page is, to the best of EMMA’s knowledge, based on data supplied by the original provider. End users are responsible for reviewing these details and for validating the strain and its suitability for their experimental use.
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CBA;B6-Mtm1em1Flmg/Flmg