- 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
B6.129S1-Kcne1tm1Sfh/Orl
Status | Available to order |
EMMA ID | EM:02190 |
International strain name | B6.129S1-Kcne1tm1Sfh/Orl |
Alternative name | IsK-KO |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Kcne1tm1Sfh, |
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 |
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Information from EMMA
Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Jervell and Lange-Nielsen syndrome / Orphanet_90647
- Romano-Ward syndrome / Orphanet_101016
MGI phenotypes (allele matching)
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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