Publications

Latest publication 10/01/2009

Analysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodiu

Deafness is the most common sensory disorder in humans and the aetiology of genetic deafness is complex. Mouse mutants have been crucial in...

Array
(
    [id_prestablog_news] => 236
    [id_shop] => 1
    [date] => 2009-10-01 00:00:00
    [date_modification] => 2024-02-09 14:15:11
    [langues] => ["1","2"]
    [actif] => 1
    [slide] => 0
    [url_redirect] => 
    [average_rating] => 
    [number_rating] => 
    [author_id] => 1
    [featured] => 0
    [prim_key] => 469
    [id_lang] => 1
    [title] => Analysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodiu
    [paragraph] => Analysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel Scn8a in peripheral neural hearing loss.
    [content] => 
Authors
F. E. Mackenzie, A. Parker, N. J. Parkinson, P. L. Oliver, D. Brooker et al.

 Lab
MRC Mammalian Genetics Unit, Harwell, U.K.
Journal
Genes, Brain and Behavior
Abstract
Deafness is the most common sensory disorder in humans and the aetiology of genetic deafness is complex. Mouse mutants have been crucial in identifying genes involved in hearing. However, many deafness genes remain unidentified. Using N-ethyl N_nitrosourea (ENU) mutagenesis to generate new mouse models of deafness, we identified a novel semi-dominant mouse mutant, Cloth-ears (Clth). Cloth-ears mice show reduced acoustic startle response and mild hearing loss from _30 days old. Auditory-evoked brainstem response (ABR) and distortion product otoacoustic emission (DPOAE) analyses indicate that the peripheral neural auditory pathway is impaired in Cloth-ears mice, but that cochlear function is normal. In addition, both Clth/Clth and Clth/+ mice display paroxysmal tremor episodes with behavioural arrest. Clth/Clth mice also show a milder continuous tremor during movement and rest. Longitudinal phenotypic analysis showed that Clth/+ and Clth/Clth mice also have complex defects in behaviour, growth, neurological and motor function. Positional cloning of Cloth-ears identified a point mutation in the neuronal voltage-gated sodium channel _-subunit gene, Scn8a, causing an aspartic acid to valine (D981V) change six amino acids downstream of the sixth transmembrane segment of the second domain (D2S6). Complementation testing with a known Scn8a mouse mutant confirmed that this mutation is responsible for the Cloth-ears phenotype. Our findings suggest a novel role for Scn8a in peripheral neural hearing loss and paroxysmal motor dysfunction.
BIOSEB Instruments Used
Grip strength test (BIO-GS3)
    [meta_description] => 
    [meta_keywords] => http://onlinelibrary.wiley.com/doi/10.1111/j.1601-183X.2009.00514.x/full
    [meta_title] => 
    [link_rewrite] => analysis-of-the-mouse-mutant-cloth-ears-shows-a-role-for-the-voltage-gated-sodium-channel-scn8a-in-peripheral-neural-hearing-loss-
    [actif_langue] => 1
    [read] => 1020
    [count_comments] => 0
    [id] => 236
    [categories] => Array
        (
            [50] => Array
                (
                    [id_prestablog_categorie] => 50
                    [title] => Auditory system
                    [link_rewrite] => Auditory-system
                )

            [2] => Array
                (
                    [id_prestablog_categorie] => 2
                    [title] => Publications
                    [link_rewrite] => publications
                )

            [13] => Array
                (
                    [id_prestablog_categorie] => 13
                    [title] => Sensory system
                    [link_rewrite] => Sensory-system
                )

        )

    [authors] => 
    [paragraph_crop] => Analysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel [...]
    [link_for_unique] => 1
    [products_liaison] => Array
        (
            [48] => Array
                (
                    [name] => Grip strength test
                    [description_short] => 
An easy way to objectively quantify the muscular strength of mice and rats, and to assess the effect of drugs, toxins, muscular (i.e. myopathy) and neurodegenerative diseases on muscular degeneration. It is widely used in conjunction with the ROTAROD motor coordination test: a normally coordinated rodent will show a decreased latency to fall off the rotating rod if its muscular strength is low. The Grip Strength Test is a must for your research on activity, motor control & coordination, and is particularly well suited for studies on Parkinson's & Huntington's disease.
New features GS4 - 2023: Color display with permanent backlight screen for easier reading, reset by footswitch, Improved battery time, Larger data memory of 500 values, Animal counter, USB port (charging/data transfer)

                    [thumb] => 
                    [img_empty] => /var/www/vhosts/de3310.ispfr.net/preprod.bioseb.com/modules/prestablog/views/img/product_link_white.jpg
                    [image_presente] => 1
                    [link] => https://preprod.bioseb.com/en/activity-motor-control-coordination/48-grip-strength-test.html
                )

        )

)
1