STOCK Sox2^ysb/WtsiCnbc[cc]

Status	Available to order
EMMA ID	EM:05015
International strain name	STOCK Sox2^ysb/WtsiCnbc[cc]
Alternative name	Yellow submarine
Strain type	Transgenic Strains
Allele/Transgene symbol	Sox2^ysb,
Gene/Transgene symbol	Sox2

Information from provider

Provider	Karen Steel
Provider affiliation	Wellcome Trust Sanger Institute
Additional owner	Kathryn S E Cheah, University of Hong Kong
Genetic information	An insertional mutation affecting inner ear and coat expression of Sox2.
Phenotypic information	Homozygotes show head bobbing, circling and deafness and have slightly yellow coats.
Breeding history	Introduced on a mixed genetic background and kept within a closed colony for more than ten years.
References	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 Circling, deafness, and yellow coat displayed by yellow submarine (ysb) and light coat and circling (lcc) mice with mutations on chromosome 3.;Dong Shuo, Leung Keith K H, Pelling Anna L, Lee Patrick Y T, Tang Anna S P, Heng Henry H Q, Tsui Lap C, Tease Charles, Fisher Graham, Steel Karen P, Cheah Kathryn S E, ;2002;Genomics;79;777-84; 12036291 Sox2 is required for sensory organ development in the mammalian inner ear.;Kiernan Amy E, Pelling Anna L, Leung Keith K H, Tang Anna S P, Bell Donald M, Tease Charles, Lovell-Badge Robin, Steel Karen P, Cheah Kathryn S E, ;2005;Nature;434;1031-5; 15846349
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

Colobomatous microphthalmia / Orphanet_98938
Anophthalmia/microphthalmia-esophageal atresia syndrome / Orphanet_77298
Nanophthalmos / Orphanet_35612
Septo-optic dysplasia spectrum / Orphanet_3157

MGI phenotypes (allele matching)

circling / MGI
head bobbing / MGI
abnormal sensory capabilities/reflexes/nociception / MGI
yellow coat color / MGI
absent cochlear nerve compound action potential / MGI
abnormal sulcus ampullaris morphology / MGI
deafness / MGI
abnormal semicircular canal morphology / MGI
abnormal vestibular saccule morphology / MGI
abnormal inner ear morphology / MGI
abnormal awl hair morphology / MGI
abnormal zigzag hair morphology / MGI
abnormal auchene hair morphology / MGI
abnormal pinna reflex / MGI
impaired swimming / MGI
impaired righting response / MGI
abnormal placing response / MGI
abnormal cochlear hair cell morphology / MGI
decreased cochlear coiling / MGI
absent vestibular hair cells / MGI
decreased cochlear nerve compound action potential / MGI
dilated cochlea / MGI
head tossing / MGI

Literature references

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
Circling, deafness, and yellow coat displayed by yellow submarine (ysb) and light coat and circling (lcc) mice with mutations on chromosome 3.;Dong Shuo, Leung Keith K H, Pelling Anna L, Lee Patrick Y T, Tang Anna S P, Heng Henry H Q, Tsui Lap C, Tease Charles, Fisher Graham, Steel Karen P, Cheah Kathryn S E, ;2002;Genomics;79;777-84; 12036291
Sox2 is required for sensory organ development in the mammalian inner ear.;Kiernan Amy E, Pelling Anna L, Leung Keith K H, Tang Anna S P, Bell Donald M, Tease Charles, Lovell-Badge Robin, Steel Karen P, Cheah Kathryn S E, ;2005;Nature;434;1031-5; 15846349

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 Sox2ysb/WtsiCnbc[cc]