STOCK Cdh23^v/WtsiCnbc

Status	Available to order
EMMA ID	EM:04896
International strain name	STOCK Cdh23^v/WtsiCnbc
Alternative name	Waltzer
Strain type	Spontaneous
Allele/Transgene symbol	Cdh23^v
Gene/Transgene symbol	Cdh23

Information from provider

Provider	Karen Steel
Provider affiliation	Wellcome Trust Sanger Institute
Genetic information	A spontaneous mutation of Cdh23 with head bobbing, circling and deafness.
Phenotypic information	An old spontaneous mutation of Cdh23 with head bobbing, circling and deafness, associated with disorganised stereocilia bundles of inner ear sensory hair cells.
Breeding history	Introduced on a mixed genetic background and kept within a closed colony for more than fifteen years.
References	Presence of interstereocilial links in waltzer mutants suggests Cdh23 is not essential for tip link formation.;Rzadzinska A K, Steel K P, ;2009;Neuroscience;158;365-8; 18996172 Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation.;Holme Ralph H, Steel Karen P, ;2004;Journal of the Association for Research in Otolaryngology : JARO;5;66-79; 14648237 Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration.;Libby Richard T, Kitamoto Junko, Holme Ralph H, Williams David S, Steel Karen P, ;2003;Experimental eye research;77;731-9; 14609561 Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23).;Di Palma F, Pellegrino R, Noben-Trauth K, ;2001;Gene;281;31-41; 11750125 Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice.;Wilson S M, Householder D B, Coppola V, Tessarollo L, Fritzsch B, Lee E C, Goss D, Carlson G A, Copeland N G, Jenkins N A, ;2001;Genomics;74;228-33; 11386759 The Laboratory Mouse. Its Origin, Heredity, and Culture. Harvard Univ. Press. Cambridge, MA;Keeler CE (Ed.);1931;Proceedings of the Royal Society of London. Series B, Biological sciences;145;206-13; 13336002 The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse.;DEOL M S, ;1956;;;;
Homozygous fertile	yes
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	not known

Information from EMMA

Archiving centre	CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain

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)

increased susceptibility to age-related hearing loss / MGI
absent pinna reflex / MGI
decreased cochlear inner hair cell number / MGI
decreased cochlear outer hair cell number / MGI
abnormal cochlear nerve compound action potential / MGI
abnormal outer hair cell stereociliary bundle morphology / MGI
decreased outer hair cell stereocilia number / MGI
increased susceptibility to noise-induced hearing loss / MGI
impaired hearing / MGI
homeostasis/metabolism phenotype / MGI
abnormal inner hair cell stereociliary bundle morphology / MGI
vision/eye phenotype / MGI
abnormal eye electrophysiology / MGI
impaired swimming / MGI
cochlear ganglion degeneration / MGI
vestibular saccular macula degeneration / MGI
cochlear hair cell degeneration / MGI
tremors / MGI
abnormal stationary movement / MGI
abnormal locomotor behavior / MGI
circling / MGI
abnormal gait / MGI
decreased grooming behavior / MGI
deafness / MGI
head shaking / MGI
decreased vertical activity / MGI
abnormal response to novelty / MGI
abnormal defecation / 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

Presence of interstereocilial links in waltzer mutants suggests Cdh23 is not essential for tip link formation.;Rzadzinska A K, Steel K P, ;2009;Neuroscience;158;365-8; 18996172
Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation.;Holme Ralph H, Steel Karen P, ;2004;Journal of the Association for Research in Otolaryngology : JARO;5;66-79; 14648237
Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration.;Libby Richard T, Kitamoto Junko, Holme Ralph H, Williams David S, Steel Karen P, ;2003;Experimental eye research;77;731-9; 14609561
Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23).;Di Palma F, Pellegrino R, Noben-Trauth K, ;2001;Gene;281;31-41; 11750125
Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice.;Wilson S M, Householder D B, Coppola V, Tessarollo L, Fritzsch B, Lee E C, Goss D, Carlson G A, Copeland N G, Jenkins N A, ;2001;Genomics;74;228-33; 11386759
The Laboratory Mouse. Its Origin, Heredity, and Culture. Harvard Univ. Press. Cambridge, MA;Keeler CE (Ed.);1931;Proceedings of the Royal Society of London. Series B, Biological sciences;145;206-13; 13336002
The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse.;DEOL M S, ;1956;;;;

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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^*
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).

More details on pricing and delivery times

Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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STOCK Cdh23v/WtsiCnbc