STOCK Cdh23v-Alb/WtsiH

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Available to order

EMMA IDEM:01316
Citation informationRRID:IMSR_EM:01316 

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International strain nameSTOCK Cdh23v-Alb/WtsiH
Alternative namev(ALB))
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolCdh23v-Alb
Gene/Transgene symbolCdh23

Information from provider

ProviderKaren Steel
Provider affiliationWellcome Trust Sanger Institute
Phenotypic informationThis is a hearing impaired, recessive mutant that has a primary defect in the sensory cells of the organ of Corti of the inner ear. Homozygotes exhibit circling behaviour and lack a Preyer reflex. Heterozygotes and wild-types are not distinguishable from each other.
References
  • Localization of the bronx waltzer (bv) deafness gene to mouse chromosome 5.;Bussoli T J, Kelly A, Steel K P, ;1997;Mammalian genome : official journal of the International Mammalian Genome Society;8;714-7; 9321462
  • Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.;Di Palma F, Holme R H, Bryda E C, Belyantseva I A, Pellegrino R, Kachar B, Steel K P, Noben-Trauth K, ;2001;Nature genetics;27;103-7; 11138008

Information from EMMA

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

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (gene matching)
  • decreased circulating calcium level / IMPC
  • preweaning lethality, incomplete penetrance / IMPC
  • absent pinna reflex / IMPC
  • decreased body length / IMPC
  • decreased circulating glucose level / IMPC
  • increased mean corpuscular hemoglobin / IMPC
  • trunk curl / IMPC
  • increased lean body mass / IMPC
  • decreased total body fat amount / IMPC
  • increased circulating sodium level / IMPC
  • abnormal gait / IMPC
  • impaired righting response / IMPC
  • decreased fasting circulating glucose level / IMPC
  • increased circulating chloride level / IMPC
  • stereotypic behavior / IMPC
  • decreased leukocyte cell number / IMPC
  • increased bone mineral content / IMPC
MGI phenotypes (allele matching)
  • bidirectional circling / MGI
  • hyperactivity / MGI
  • decreased litter size / MGI
  • deafness / MGI
  • abnormal ear morphology / MGI
  • abnormal ear physiology / MGI
  • abnormal cochlear outer hair cell morphology / MGI
  • abnormal vestibular hair cell stereociliary bundle morphology / MGI
  • abnormal outer hair cell stereociliary bundle morphology / MGI
  • decreased outer hair cell stereocilia number / MGI
  • absent outer hair cell stereocilia / MGI
  • abnormal inner hair cell stereociliary bundle morphology / MGI
  • head tossing / MGI
  • abnormal outer hair cell kinocilium morphology / MGI
  • vision/eye phenotype / MGI
MGI phenotypes (gene matching)
  • abnormal ear position / MGI
  • abnormal inner ear morphology / MGI
  • abnormal cochlea morphology / MGI
  • abnormal organ of Corti morphology / MGI
  • organ of Corti degeneration / MGI
  • abnormal stria vascularis morphology / MGI
  • tremors / MGI
  • abnormal maternal nurturing / MGI
  • abnormal stationary movement / MGI
  • abnormal locomotor behavior / MGI
  • ataxia / MGI
  • circling / MGI
  • bidirectional circling / MGI
  • hyperactivity / MGI
  • abnormal gait / MGI
  • head bobbing / MGI
  • decreased grooming behavior / MGI
  • abnormal startle reflex / MGI
  • decreased startle reflex / MGI
  • impaired swimming / MGI
  • decreased litter size / MGI
  • abnormal reflex / MGI
  • abnormal hearing physiology / MGI
  • deafness / MGI
  • abnormal motor capabilities/coordination/movement / MGI
  • abnormal ear morphology / MGI
  • abnormal cochlear hair cell morphology / MGI
  • head shaking / MGI
  • decreased vertical activity / MGI
  • abnormal cochlear ganglion morphology / MGI
  • cochlear ganglion degeneration / MGI
  • abnormal otolith morphology / MGI
  • abnormal response to novelty / MGI
  • abnormal cochlear sensory epithelium morphology / MGI
  • cochlear ganglion hypoplasia / MGI
  • abnormal defecation / MGI
  • abnormal ear physiology / MGI
  • vestibular saccular degeneration / MGI
  • vestibular saccular macula degeneration / MGI
  • cochlear hair cell degeneration / MGI
  • stria vascularis degeneration / MGI
  • decreased cochlear inner hair cell number / MGI
  • cochlear inner hair cell degeneration / MGI
  • abnormal cochlear outer hair cell morphology / MGI
  • decreased cochlear outer hair cell number / MGI
  • cochlear outer hair cell degeneration / MGI
  • decreased cochlear hair cell number / MGI
  • abnormal cochlear nerve compound action potential / MGI
  • abnormal hair cell mechanoelectric transduction / MGI
  • abnormal cochlear hair cell physiology / MGI
  • abnormal cochlear outer hair cell physiology / MGI
  • abnormal orientation of outer hair cell stereociliary bundles / MGI
  • abnormal orientation of inner hair cell stereociliary bundles / MGI
  • abnormal vestibular hair cell stereociliary bundle morphology / MGI
  • abnormal cochlear hair cell stereociliary bundle morphology / MGI
  • abnormal orientation of cochlear hair cell stereociliary bundles / MGI
  • decreased cochlear hair cell stereocilia number / MGI
  • abnormal outer hair cell stereociliary bundle morphology / MGI
  • decreased outer hair cell stereocilia number / MGI
  • absent outer hair cell stereocilia / MGI
  • abnormal inner hair cell stereociliary bundle morphology / MGI
  • abnormal cochlear hair cell inter-stereocilial links morphology / MGI
  • abnormal cochlear hair bundle tip links morphology / MGI
  • increased susceptibility to noise-induced hearing loss / MGI
  • abnormal distortion product otoacoustic emission / MGI
  • absent distortion product otoacoustic emissions / MGI
  • abnormal auditory brainstem response / MGI
  • abnormal vestibular system physiology / MGI
  • increased susceptibility to age-related hearing loss / MGI
  • absent linear vestibular evoked potential / MGI
  • head tilt / MGI
  • head tossing / MGI
  • novel environmental response-related retropulsion / MGI
  • homeostasis/metabolism phenotype / MGI
  • hearing/vestibular/ear phenotype / MGI
  • behavior/neurological phenotype / MGI
  • vision/eye phenotype / MGI
  • abnormal eye electrophysiology / MGI
  • impaired hearing / MGI
  • absent pinna reflex / MGI
  • absent startle reflex / MGI
  • abnormal inner hair cell kinocilium morphology / MGI
  • abnormal outer hair cell kinocilium morphology / MGI
  • increased or absent threshold for auditory brainstem response / MGI
  • decreased a wave implicit time / MGI
  • decreased b wave implicit time / MGI

Literature references

  • Localization of the bronx waltzer (bv) deafness gene to mouse chromosome 5.;Bussoli T J, Kelly A, Steel K P, ;1997;Mammalian genome : official journal of the International Mammalian Genome Society;8;714-7; 9321462
  • Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.;Di Palma F, Holme R H, Bryda E C, Belyantseva I A, Pellegrino R, Kachar B, Steel K P, Noben-Trauth K, ;2001;Nature genetics;27;103-7; 11138008

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