C57BL/6N-A^tm1Brd Dmxl2^{tm1a(EUCOMM)Wtsi}/WtsiH

Status	Available to order
EMMA ID	EM:06852
International strain name	C57BL/6N-A^tm1Brd Dmxl2^{tm1a(EUCOMM)Wtsi}/WtsiH
Alternative name	EPD0431_3_A05
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Dmxl2^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Dmxl2
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_3_A05. 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	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Polyendocrine-polyneuropathy syndrome / Orphanet_453533
Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
Early infantile epileptic encephalopathy / Orphanet_1934

IMPC phenotypes (allele matching)

decreased lean body mass / IMPC
decreased circulating cholesterol level / IMPC
increased total body fat amount / IMPC
decreased bone mineral content / IMPC
preweaning lethality, complete penetrance / IMPC

IMPC phenotypes (gene matching)

preweaning lethality, complete penetrance / IMPC
decreased circulating cholesterol level / IMPC
decreased lean body mass / IMPC
decreased bone mineral content / IMPC
increased total body fat amount / IMPC

MGI phenotypes (allele matching)

abnormal vertebral artery morphology / MGI
abnormal ductus venosus valve morphology / MGI
multiple persisting craniopharyngeal ducts / MGI
blood in lymph vessels / MGI
embryo tumor / MGI
prenatal lethality, complete penetrance / MGI

MGI phenotypes (gene matching)

no abnormal phenotype detected / MGI
prenatal lethality, complete penetrance / MGI
abnormal vertebral artery morphology / MGI
abnormal ductus venosus valve morphology / MGI
multiple persisting craniopharyngeal ducts / MGI
blood in lymph vessels / MGI
embryo tumor / 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 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
Tissue - Types of tissue, 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)
MTA will be issued after an order has been submitted.

EMMA conditions
Legally binding conditions for the transfer

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