ArticleMammalian genome : official journal of the International Mammalian Genome Society2000
A new spontaneous mouse mutation in the Kcne1 gene.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 44 citations in OpenAlex.
- Low level of expression of known deafness genes Kcne1, Kcnj10 or Col4a3 is sufficient to maintain hearing in mice.Hearing research · 2025Article
- Congenital Deafness and Recent Advances Towards Restoring Hearing Loss.Current protocols · 2021Article
- Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.PLoS genetics · 2020Article
- TBX1 is required for normal stria vascularis and semicircular canal development.Developmental biology · 2020Article
- Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.Human mutation · 2019Article
- Genes important for otoneurological diagnostic purposes - current status and future prospects.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2018Review
- Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics.Human genetics · 2010Article
- Article
- Nkcc1 (Slc12a2) is required for the regulation of endolymph volume in the otic vesicle and swim bladder volume in the zebrafish larva.Development (Cambridge, England) · 2009Article
- Secondary structure of a KCNE cytoplasmic domain.The Journal of general physiology · 2006Article
- Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential.The Journal of physiology · 2006Review
- Inner ear proteomics of mouse models for deafness, a discovery strategy.Brain research · 2006Review
- A quantitative survey of gravity receptor function in mutant mouse strains.Journal of the Association for Research in Otolaryngology : JARO · 2005Article
- Postural and locomotor control in normal and vestibularly deficient mice.The Journal of physiology · 2004Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
A new mouse mutant, punk rocker (allele symbol Kcne1(pkr)), arose spontaneously on a C57BL/10J inbred strain background and is characterized by a distinctive head-tossing, circling, and ataxic phenotype. It is also profoundly and bilaterally deaf. The mutation resides in the Kcne1 gene on Chromosome (Chr) 16 and has been identified as a single base change within the coding region of the third exon. The C to T nucleotide substitution causes an arginine to be altered to a termination codon at amino acid position 67, and predictably this will result in a significantly truncated protein product. The Kcne1(pkr) mutant represents the first spontaneous mouse model for the human disorder, Jervell and Lange-Nielsen syndrome, associated with mutations in the homologous KCNE1 gene on human Chr 21.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.