C3H.CAnN-Scn8aClth/H

Status

Available to order

EMMA IDEM:01247
International strain nameC3H.CAnN-Scn8aClth/H
Alternative nameGENA399;Cloth-ears
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolScn8aClth,
Gene/Transgene symbolScn8a

Information from provider

ProviderFrancesca Mackenzie
Provider affiliationMRC Mammalian Genetics Unit
Genetic informationCloth-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 informationHomozygous:
Homozygotes show severe continuous tremor and deafness.

Heterozygous:
Heterozygotes show sporadic tremor and deafness.
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

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

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

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

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

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