- abnormal pinna reflex / MGI
- hearing/vestibular/ear phenotype / MGI
- absent pinna reflex / MGI
- increased or absent threshold for auditory brainstem response / MGI
- tremors / MGI
- decreased body weight / MGI
- decreased startle reflex / MGI
- abnormal pilomotor reflex / MGI
- hunched posture / MGI
- abnormal behavior / MGI
- impaired hearing / MGI
- small cerebellum / MGI
- decreased Purkinje cell number / MGI
- increased anxiety-related response / MGI
- impaired coordination / MGI
- abnormal reflex / MGI
- enhanced behavioral response to anesthetic / MGI
- mortality/aging / MGI
- abnormal auditory brainstem response waveform shape / MGI
C3H.CAnN-Scn8aClth/H
Status | Available to order |
EMMA ID | EM:01247 |
International strain name | C3H.CAnN-Scn8aClth/H |
Alternative name | GENA399;Cloth-ears |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Scn8aClth, |
Gene/Transgene symbol | Scn8a |
Information from provider
Provider | Francesca Mackenzie |
Provider affiliation | MRC Mammalian Genetics Unit |
Genetic information | Cloth-ears mice show progressive semi-dominant deafness and tremors. Positional cloning of Cloth-ears identified a point mutation in the neuronal voltage-gated sodium channel type VIII alpha-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). |
Phenotypic information | Homozygous:Homozygotes show severe continuous tremor and deafness. Heterozygous:Heterozygotes show sporadic tremor and deafness. |
References |
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Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Undetermined early-onset epileptic encephalopathy / Orphanet_442835
- Infantile convulsions and choreoathetosis / Orphanet_31709
- Benign familial infantile epilepsy / Orphanet_306
MGI phenotypes (allele matching)
Literature references
- A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse.;Nolan P M, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray I C, Vizor L, Brooker D, Whitehill E, Washbourne R, Hough T, Greenaway S, Hewitt M, Liu X, McCormack S, Pickford K, Selley R, Wells C, Tymowska-Lalanne Z, Roby P, Glenister P, Thornton C, Thaung C, Stevenson J A, Arkell R, Mburu P, Hardisty R, Kiernan A, Erven A, Steel K P, Voegeling S, Guenet J L, Nickols C, Sadri R, Nasse M, Isaacs A, Davies K, Browne M, Fisher E M, Martin J, Rastan S, Brown S D, Hunter J, ;2000;Nature genetics;25;440-3; 10932191
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