STOCK Grxcr1^pi-tde/Cnbc

Status	Available to order
EMMA ID	EM:04895
International strain name	STOCK Grxcr1^pi-tde/Cnbc
Alternative name	Tasmanian devil, Grxcr1
Strain type	Transgenic Strains
Allele/Transgene symbol	Grxcr1^pi-tde,
Gene/Transgene symbol	Grxcr1

Information from provider

Provider	Karen Steel
Provider affiliation	Wellcome Trust Sanger Institute
Additional owner	Nicholas Allen, Babraham Institute, Cambridge, UK.
Genetic information	An insertional mutation affecting the Grxcr1 gene.
Phenotypic information	Homozygotes show head bobbing, circling and deafness and have thin stereocilia on sensory hair cells of the inner ear.
Breeding history	Introduced on a mixed genetic background and kept within a closed colony for more than ten years.
References	A novel stereocilia defect in sensory hair cells of the deaf mouse mutant Tasmanian devil.;Erven Alexandra, Skynner Michael J, Okumura Katsuzumi, Takebayashi Shin-ichiro, Brown Steve D M, Steel Karen P, Allen Nicholas D, ;2002;The European journal of neuroscience;16;1433-41; 12405956 Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.;Odeh Hana, Hunker Kristina L, Belyantseva Inna A, Azaiez Hela, Avenarius Matthew R, Zheng Lili, Peters Linda M, Gagnon Leona H, Hagiwara Nobuko, Skynner Michael J, Brilliant Murray H, Allen Nicholas D, Riazuddin Saima, Johnson Kenneth R, Raphael Yehoash, Najmabadi Hossein, Friedman Thomas B, Bartles James R, Smith Richard J H, Kohrman David C, ;2010;American journal of human genetics;86;148-60; 20137774 Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.;Schraders Margit, Lee Kwanghyuk, Oostrik Jaap, Huygen Patrick L M, Ali Ghazanfar, Hoefsloot Lies H, Veltman Joris A, Cremers Frans P M, Basit Sulman, Ansar Muhammad, Cremers Cor W R J, Kunst Henricus P M, Ahmad Wasim, Admiraal Ronald J C, Leal Suzanne M, Kremer Hannie, ;2010;American journal of human genetics;86;138-47; 20137778
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

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636

MGI phenotypes (allele matching)

circling / MGI
vestibular hair cell degeneration / MGI
cochlear hair cell degeneration / MGI
decreased cochlear nerve compound action potential / MGI
abnormal vestibular hair cell stereociliary bundle morphology / MGI
thin vestibular hair cell stereocilia / MGI
abnormal cochlear hair cell stereociliary bundle morphology / MGI
thin cochlear hair cell stereocilia / MGI
head tossing / MGI

Literature references

A novel stereocilia defect in sensory hair cells of the deaf mouse mutant Tasmanian devil.;Erven Alexandra, Skynner Michael J, Okumura Katsuzumi, Takebayashi Shin-ichiro, Brown Steve D M, Steel Karen P, Allen Nicholas D, ;2002;The European journal of neuroscience;16;1433-41; 12405956
Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.;Odeh Hana, Hunker Kristina L, Belyantseva Inna A, Azaiez Hela, Avenarius Matthew R, Zheng Lili, Peters Linda M, Gagnon Leona H, Hagiwara Nobuko, Skynner Michael J, Brilliant Murray H, Allen Nicholas D, Riazuddin Saima, Johnson Kenneth R, Raphael Yehoash, Najmabadi Hossein, Friedman Thomas B, Bartles James R, Smith Richard J H, Kohrman David C, ;2010;American journal of human genetics;86;148-60; 20137774
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.;Schraders Margit, Lee Kwanghyuk, Oostrik Jaap, Huygen Patrick L M, Ali Ghazanfar, Hoefsloot Lies H, Veltman Joris A, Cremers Frans P M, Basit Sulman, Ansar Muhammad, Cremers Cor W R J, Kunst Henricus P M, Ahmad Wasim, Admiraal Ronald J C, Leal Suzanne M, Kremer Hannie, ;2010;American journal of human genetics;86;138-47; 20137778

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

Genotyping protocol

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 Grxcr1pi-tde/Cnbc