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

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

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;;;;

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^*
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