B6.129S1-Kcne1^tm1Sfh/Orl

Status	Available to order
EMMA ID	EM:02190
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

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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).

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Practical information

Example health report
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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

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B6.129S1-Kcne1tm1Sfh/Orl