C57BL/6N-Marveld2^{tm1a(EUCOMM)Wtsi}/H

Status	Available to order
EMMA ID	EM:07498
International strain name	C57BL/6N-Marveld2^{tm1a(EUCOMM)Wtsi}/H
Alternative name	EPD0597_2_G11
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Marveld2^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Marveld2
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	MRC, Medical Research Council
Provider affiliation	Mary Lyon Centre at MRC Harwell
Genetic information	This mouse line originates from EUCOMM ES clone EPD0597_2_G11. 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

Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636

IMPC phenotypes (gene matching)

decreased prepulse inhibition / IMPC
abnormal auditory brainstem response / IMPC
decreased startle reflex / IMPC
abnormal startle reflex / IMPC
enlarged heart / IMPC
abnormal ear morphology / IMPC

MGI phenotypes (gene matching)

abnormal organ of Corti morphology / MGI
abnormal stria vascularis morphology / MGI
abnormal myocardial fiber morphology / MGI
increased body weight / MGI
deafness / MGI
increased heart weight / MGI
cochlear ganglion degeneration / MGI
increased liver weight / MGI
increased kidney weight / MGI
abnormal utricular macula morphology / MGI
cochlear hair cell degeneration / MGI
thin stria vascularis / MGI
cochlear inner hair cell degeneration / MGI
cochlear outer hair cell degeneration / MGI
abnormal thyroid follicle morphology / MGI
abnormal distortion product otoacoustic emission / MGI
syndromic hearing loss / MGI
increased spleen weight / MGI
renal/urinary system phenotype / MGI
liver/biliary system phenotype / MGI
hearing/vestibular/ear phenotype / MGI
endocrine/exocrine gland phenotype / MGI
digestive/alimentary phenotype / MGI
cardiovascular system phenotype / MGI
absent pinna reflex / MGI
abnormal olfactory epithelium morphology / MGI
abnormal salivary gland duct morphology / MGI
increased or absent threshold for auditory brainstem response / 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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