IMPC phenotypes (gene matching)
C3H.CAnN-Scn8aClth/H
| Status | Available to order |
| EMMA ID | EM:01247 |
| Citation information | RRID:IMSR_EM:01247 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| 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)
- 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
MGI phenotypes (gene matching)
- myoclonus / MGI
- tremors / MGI
- muscle weakness / MGI
- progressive muscle weakness / MGI
- muscle degeneration / MGI
- myopathy / MGI
- dystrophic muscle / MGI
- paralysis / MGI
- hindlimb paralysis / MGI
- small cerebellum / MGI
- abnormal cerebellum external granule cell layer morphology / MGI
- Purkinje cell degeneration / MGI
- decreased Purkinje cell number / MGI
- demyelination / MGI
- peripheral nervous system degeneration / MGI
- abnormal neuromuscular synapse morphology / MGI
- decreased body weight / MGI
- decreased body size / MGI
- increased anxiety-related response / MGI
- abnormal locomotor behavior / MGI
- ataxia / MGI
- hypoactivity / MGI
- impaired coordination / MGI
- abnormal gait / MGI
- abnormal pinna reflex / MGI
- decreased startle reflex / MGI
- abnormal pilomotor reflex / MGI
- abnormal posture / MGI
- hunched posture / MGI
- limb grasping / MGI
- abnormal motor coordination/balance / MGI
- impaired limb coordination / MGI
- impaired balance / MGI
- hydroencephaly / MGI
- respiratory distress / MGI
- abnormal reflex / MGI
- seizures / MGI
- abnormal motor capabilities/coordination/movement / MGI
- postnatal lethality / MGI
- premature death / MGI
- abnormal muscle physiology / MGI
- abnormal brain morphology / MGI
- muscular atrophy / MGI
- abnormal nervous system electrophysiology / MGI
- oligozoospermia / MGI
- decreased susceptibility to pharmacologically induced seizures / MGI
- abnormal endplate potential / MGI
- impaired muscle relaxation / MGI
- abnormal voluntary movement / MGI
- nervous system phenotype / MGI
- skeletal muscle necrosis / MGI
- abnormal ventral spinal root morphology / MGI
- abnormal muscle tone / MGI
- myocardial fiber degeneration / MGI
- cervical vertebrae degeneration / MGI
- abnormal neuron physiology / MGI
- abnormal miniature endplate potential / MGI
- abnormal behavior / MGI
- abnormal heart ventricle morphology / MGI
- head tossing / MGI
- dystonia / MGI
- muscle phenotype / MGI
- hearing/vestibular/ear phenotype / MGI
- vision/eye phenotype / MGI
- abnormal action potential / MGI
- abnormal nerve conduction / MGI
- axon degeneration / MGI
- abnormal eye electrophysiology / MGI
- abnormal heart septum morphology / MGI
- impaired hearing / MGI
- absent pinna reflex / MGI
- decreased nerve conduction velocity / MGI
- abnormal spike wave discharge / MGI
- decreased cerebellar granule cell number / MGI
- decreased skeletal muscle fiber size / MGI
- paraparesis / MGI
- enhanced behavioral response to anesthetic / MGI
- decreased grip strength / MGI
- abnormal atrium endocardium morphology / MGI
- mortality/aging / MGI
- postnatal lethality, complete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- enlarged brain ventricles / MGI
- abnormal auditory brainstem response waveform shape / MGI
- increased or absent threshold for auditory brainstem response / MGI
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