STRAIN INFORMATION
Family Identifier
 NMF190
Synonym(s)
 Kcne1nmf190; C57BL/6J-Kcne12J/J; JR#4820
Synopsis
 Circling, head tilt and head tossing behavior; the mutants are deaf.
Gene Symbol
 Kcne1 (View MGI Record)
Gene
 potassium voltage-gated channel, Isk-related
Allele Symbol
 Kcne1nmf190 (View MGI Record)
Allele
 neuroscience mutagenesis facility190
Abnormal Assay(s)
 Assay: Auditory brain stem response (ABR)

   Domain(s): Auditory/Vestibular

Assay: Overt movement/posture

   Domain(s): Visible Mutants
Phenotype Description
 The mutants show circling and head tossing behavior, and a slight head tilt, observable at 4 weeks of age (+/-1 week; n=18). Two mutants tested for Auditory brainstem responses were found to be deaf. A colony can be maintained through normal breeding. Because of the map position of this mutation, and its phenotypic similarity to Kcne1 mutations (potassium voltage-gated channel, Isk-related subfamily, member 1, see also Vetter et al., 1996), complementation tests with Kcne1pkr (Kcne1 punk rocker; Letts et al., 2000) have been performed to determine if NMF190 represents an allele of Kcne1. Two litters of heterozygote matings between NMF190 and Kcne1pkr yielded 2 mutants in a total of 12 progeny, suggesting that NMF190 indeed represents an allele of Kcne1. The NMF190 mutants might therefore be useful for the study of Jervell and Lange-Nielsen syndrome, a human autosomal recessive disorder, affecting auditory and cardiac functions (Letts et al., 2000).   (View video)
Pathology Report
 Serial sections of the ears of one mutant (32 days of age) showed a thickened tectorial membrane with mineralization and adhesion to Reissner's membrane; whole ear exam of one other mutant (30 days of age) showed abnormally shaped maculae. Standard pathology work-up showed no other abnormalities.
HERITABILITY AND MAPPING INFORMATION
Background Strain
 C57BL/6J
Heritability Mode
 Recessive
Heritability Status
 Proven; 3 heterozygote matings produced 7 affected mice in a total of 25 progeny.
Chromosome
 16
Molecular Interval
 D16Mit94 - 3.4 cM - nmf190 - 7.0 cM - D16Mit106; D16Mit94, LOD=10.9; D16Mit106; LOD=8.9
Map
STATUS INFORMATION
Mutant Status
 Cryopreserved Embryos
Comments
 Please note: The majority of frozen NMF embryos is obtained through matings between homozygous (or heterozygous) mutant males and wild-type females; if recovery of mutants is requested, the mice will be shipped as soon as possible following wean without further phenotype or genotype testing. NMF embryos are supplied subject to the General Terms and Conditions of Sale posted at www.jaxmice.jax.org. For prices or further information, please inquire at srp@jax.org or nmf-mice@jax.org. (13) NMF190 have been requested by and distributed to 2 investigators.
Contact e-Mail Address
 nmf-mice@jax.org