C57BL/6N-A^tm1Brd Kcne1^{tm1a(EUCOMM)Hmgu}/Ics

Status	Available to order
EMMA ID	EM:10850
Citation information	RRID:IMSR_EM:10850 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 Kcne1^{tm1a(EUCOMM)Hmgu}/Ics
Alternative name	HEPD0659_5_A11
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Kcne1^{tm1a(EUCOMM)Hmgu}
Gene/Transgene symbol	Kcne1
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	ICS, Institut Clinique de la Souris
Provider affiliation	ICS, Institut Clinique de la Souris
Genetic information	This mouse line originates from EUCOMM ES clone HEPD0659_5_A11. 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	ICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France
Animals used for archiving	heterozygous C57BL/6N males

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Jervell and Lange-Nielsen syndrome / Orphanet_90647
Romano-Ward syndrome / Orphanet_101016

IMPC phenotypes (gene matching)

decreased startle reflex / IMPC
hyperactivity / IMPC
decreased locomotor activity / IMPC
abnormal startle reflex / IMPC
increased lean body mass / IMPC
decreased prepulse inhibition / IMPC
decreased bone mineral content / IMPC
increased circulating alanine transaminase level / IMPC
abnormal behavior / IMPC
decreased thigmotaxis / IMPC
head bobbing / IMPC
decreased anxiety-related response / IMPC
abnormal locomotor behavior / IMPC
abnormal cued conditioning behavior / IMPC
increased monocyte cell number / IMPC
increased blood urea nitrogen level / IMPC
abnormal motor capabilities/coordination/movement / IMPC
increased circulating alkaline phosphatase level / IMPC
decreased vertical activity / IMPC
abnormal auditory brainstem response / IMPC
decreased bone mineral density / IMPC
impaired righting response / IMPC
trunk curl / IMPC
increased neutrophil cell number / IMPC
decreased lymphocyte cell number / IMPC
decreased total body fat amount / IMPC
tremors / IMPC
abnormal gait / IMPC
increased mean corpuscular volume / IMPC

MGI phenotypes (gene matching)

abnormal inner ear morphology / MGI
abnormal cochlea morphology / MGI
abnormal inner ear vestibule morphology / MGI
organ of Corti degeneration / MGI
absent organ of Corti / MGI
abnormal stria vascularis morphology / MGI
ataxia / MGI
circling / MGI
bidirectional circling / MGI
unidirectional circling / MGI
hyperactivity / MGI
impaired coordination / MGI
stereotypic behavior / MGI
head bobbing / MGI
dehydration / MGI
decreased startle reflex / MGI
abnormal posture / MGI
impaired swimming / MGI
impaired righting response / MGI
impaired limb coordination / MGI
abnormal digestive system physiology / MGI
abnormal reflex / MGI
deafness / MGI
abnormal semicircular canal morphology / MGI
increased hematocrit / MGI
increased circulating aldosterone level / MGI
cochlear ganglion degeneration / MGI
abnormal otolith morphology / MGI
increased circulating chloride level / MGI
abnormal tectorial membrane morphology / MGI
abnormal scala media morphology / MGI
prolonged QT interval / MGI
abnormal cochlear sensory epithelium morphology / MGI
abnormal circulating renin level / MGI
abnormal feces composition / MGI
abnormal ear physiology / MGI
hypokalemia / MGI
abnormal myocardial fiber physiology / MGI
abnormal crista ampullaris morphology / MGI
vestibular hair cell degeneration / MGI
vestibular saccular macula degeneration / MGI
utricular macular degeneration / MGI
cochlear hair cell degeneration / MGI
absent cochlear inner hair cells / MGI
absent cochlear outer hair cells / MGI
absent cochlear hair cells / MGI
abnormal crista ampullaris neuroepithelium morphology / MGI
absent outer hair cell stereocilia / MGI
abnormal auditory brainstem response / MGI
abnormal vestibular system physiology / MGI
abnormal vestibular dark cell morphology / MGI
vestibular dark cell degeneration / MGI
absent linear vestibular evoked potential / MGI
absent vestibuloocular reflex / MGI
head tilt / MGI
head tossing / MGI
increased circulating sodium level / MGI
collapsed Reissner membrane / MGI
absent pinna reflex / MGI
absent startle reflex / MGI
small scala media / MGI
increased blood osmolality / MGI
increased or absent threshold for auditory brainstem response / 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

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 Kcne1tm1a(EUCOMM)Hmgu/Ics