IMPC phenotypes (gene matching)
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 |
|
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