B6.129S1-Kcne1^tm1Sfh/Orl

Status	Available to order
EMMA ID	EM:02190
Citation information	RRID:IMSR_EM:02190 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	B6.129S1-Kcne1^tm1Sfh/Orl
Alternative name	IsK-KO
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Kcne1^tm1Sfh
Gene/Transgene symbol	Kcne1

Information from provider

Provider	Jacques Barhanin
Provider affiliation	IPMC-CNRS
Genetic information	See ref.: PubMed ID 8982171 (Vetter et al. 1996).
Phenotypic information	Deafness, inner ear defect, shaker behavior.
Breeding history	IsK (Kcne1) +/- backcrossed to C57BL/6J (Charles River) for 11 generations. Current generation >N11F5
References	Inner ear defects induced by null mutation of the isk gene.;Vetter D E, Mann J R, Wangemann P, Liu J, McLaughlin K J, Lesage F, Marcus D C, Lazdunski M, Heinemann S F, Barhanin J, ;1996;Neuron;17;1251-64; 8982171 The multifaceted phenotype of the knockout mouse for the KCNE1 potassium channel gene.;Warth Richard, Barhanin Jacques, ;2002;American journal of physiology. Regulatory, integrative and comparative physiology;282;R639-48; 11832382 Involvement of IsK-associated K+ channel in heart rate control of repolarization in a murine engineered model of Jervell and Lange-Nielsen syndrome.;Drici M D, Arrighi I, Chouabe C, Mann J R, Lazdunski M, Romey G, Barhanin J, ;1998;Circulation research;83;95-102; 9670922

Information from EMMA

Archiving centre	Institut de Transgenose, INTRAGENE, Orléans, France

Disease and phenotype information

MGI allele-associated human disease models

Jervell-Lange Nielsen syndrome / DOID:2842

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 (allele matching)

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
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 semicircular canal morphology / MGI
increased hematocrit / MGI
increased circulating aldosterone level / MGI
cochlear ganglion degeneration / MGI
increased circulating chloride level / 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 crista ampullaris morphology / MGI
vestibular hair cell degeneration / MGI
vestibular saccular macula degeneration / MGI
utricular macular degeneration / MGI
cochlear hair cell degeneration / MGI
abnormal crista ampullaris neuroepithelium morphology / MGI
abnormal vestibular system physiology / MGI
abnormal vestibular dark cell morphology / MGI
vestibular dark cell degeneration / MGI
absent vestibuloocular reflex / MGI
head tilt / MGI
increased circulating sodium level / MGI
collapsed Reissner membrane / MGI
absent pinna reflex / MGI
absent startle reflex / MGI
increased blood osmolality / MGI

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

Literature references

Inner ear defects induced by null mutation of the isk gene.;Vetter D E, Mann J R, Wangemann P, Liu J, McLaughlin K J, Lesage F, Marcus D C, Lazdunski M, Heinemann S F, Barhanin J, ;1996;Neuron;17;1251-64; 8982171
The multifaceted phenotype of the knockout mouse for the KCNE1 potassium channel gene.;Warth Richard, Barhanin Jacques, ;2002;American journal of physiology. Regulatory, integrative and comparative physiology;282;R639-48; 11832382
Involvement of IsK-associated K+ channel in heart rate control of repolarization in a murine engineered model of Jervell and Lange-Nielsen syndrome.;Drici M D, Arrighi I, Chouabe C, Mann J R, Lazdunski M, Romey G, Barhanin J, ;1998;Circulation research;83;95-102; 9670922

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 embryos. 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)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.

B6.129S1-Kcne1tm1Sfh/Orl