C57BL/6N-A^tm1Brd Ddhd2^{tm1a(EUCOMM)Wtsi}/WtsiCnrm

Status	Available to order
EMMA ID	EM:07204
Citation information	RRID:IMSR_EM:07204 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 Ddhd2^{tm1a(EUCOMM)Wtsi}/WtsiCnrm
Alternative name	EPD0605_2_F10
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Ddhd2^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Ddhd2
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 EPD0605_2_F10. 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	CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal recessive spastic paraplegia type 54 / Orphanet_320380

MGI phenotypes (gene matching)

impaired coordination / MGI
short stride length / MGI
abnormal motor coordination/balance / MGI
impaired balance / MGI
abnormal lipid level / MGI
abnormal brain morphology / MGI
decreased vertical activity / MGI
abnormal neuron morphology / MGI
increased triglyceride level / MGI
abnormal long term spatial reference memory / MGI
impaired spatial learning / MGI

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).

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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C57BL/6N-Atm1Brd Ddhd2tm1a(EUCOMM)Wtsi/WtsiCnrm