STOCK Cdh23^v-Alb/WtsiH

Status	Available to order
EMMA ID	EM:01316
International strain name	STOCK Cdh23^v-Alb/WtsiH
Alternative name	v(ALB))
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Cdh23^v-Alb
Gene/Transgene symbol	Cdh23

Information from provider

Provider	Karen Steel
Provider affiliation	Wellcome Trust Sanger Institute
Phenotypic information	This 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 centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

MGI allele-associated human disease models

Usher syndrome type 1D / DOID:0110831

Orphanet associated rare diseases, based on orthologous gene matching

Usher syndrome type 1 / Orphanet_231169
Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636

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

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*
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STOCK Cdh23v-Alb/WtsiH