- abnormal brain morphology / IMPC
- abnormal optic disk morphology / IMPC
- irregularly shaped pupil / IMPC
- developmental dysplasia / IMPC
- embryonic growth retardation / IMPC
- preweaning lethality, complete penetrance / IMPC
- embryonic lethality prior to organogenesis / IMPC
- abnormal retina blood vessel morphology / IMPC
- atrophy / IMPC
- enhanced contextual conditioning behavior / IMPC
STOCK Sox2ysb/WtsiCnbc[cc]
| Status | Available to order |
| EMMA ID | EM:05015 |
| Citation information | RRID:IMSR_EM:05015 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | STOCK Sox2ysb/WtsiCnbc[cc] |
| Alternative name | Yellow submarine |
| Strain type | Transgenic Strains |
| Allele/Transgene symbol | Sox2ysb |
| 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 |
|
| 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
IMPC phenotypes (gene matching)
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
MGI phenotypes (gene matching)
- abnormal inner ear morphology / MGI
- abnormal sulcus ampullaris morphology / MGI
- diluted coat color / MGI
- abnormal guard hair morphology / MGI
- abnormal awl hair morphology / MGI
- abnormal zigzag hair morphology / MGI
- abnormal auchene hair morphology / MGI
- abnormal esophagus morphology / MGI
- abnormal esophageal squamous epithelium morphology / MGI
- abnormal stomach morphology / MGI
- abnormal salivary gland morphology / MGI
- abnormal pituitary gland morphology / MGI
- abnormal tongue morphology / MGI
- decreased corpus callosum size / MGI
- abnormal cerebral cortex morphology / MGI
- abnormal thalamus morphology / MGI
- motor neuron degeneration / MGI
- nonconvulsive seizures / MGI
- small testis / MGI
- decreased body size / MGI
- anophthalmia / MGI
- microphthalmia / MGI
- disorganized retinal layers / MGI
- retina hyperplasia / MGI
- circling / MGI
- bidirectional circling / MGI
- head bobbing / MGI
- abnormal pinna reflex / MGI
- impaired swimming / MGI
- impaired righting response / MGI
- abnormal placing response / MGI
- abnormal digestive system physiology / MGI
- abnormal ectoderm development / MGI
- absent egg cylinders / MGI
- absent ectoplacental cone / MGI
- edema / MGI
- stomach inflammation / MGI
- reduced male fertility / MGI
- respiratory distress / MGI
- deafness / MGI
- abnormal sensory capabilities/reflexes/nociception / MGI
- postnatal lethality / MGI
- premature death / MGI
- abnormal brain morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal seminiferous tubule morphology / MGI
- abnormal semicircular canal morphology / MGI
- abnormal cochlear hair cell morphology / MGI
- abnormal ependyma morphology / MGI
- oligozoospermia / MGI
- no phenotypic analysis / MGI
- yellow coat color / MGI
- decreased cochlear coiling / MGI
- esophageal atresia / MGI
- gastrointestinal ulcer / MGI
- tracheoesophageal fistula / MGI
- abnormal nervous system morphology / MGI
- abnormal nervous system physiology / MGI
- abnormal palate morphology / MGI
- small vestibular saccule / MGI
- absent vestibular hair cells / MGI
- small utricle / MGI
- absent cochlear hair cells / MGI
- absent cochlear nerve compound action potential / MGI
- decreased cochlear nerve compound action potential / MGI
- dilated cochlea / MGI
- decreased male germ cell number / MGI
- decreased adrenocorticotropin level / MGI
- decreased luteinizing hormone level / MGI
- decreased thyroid-stimulating hormone level / MGI
- decreased growth hormone level / MGI
- decreased prolactin level / MGI
- head tossing / MGI
- dystonia / MGI
- growth/size/body region phenotype / MGI
- embryo phenotype / MGI
- digestive/alimentary phenotype / MGI
- behavior/neurological phenotype / MGI
- respiratory system phenotype / MGI
- vision/eye phenotype / MGI
- abnormal vestibular saccule morphology / MGI
- optic nerve hypoplasia / MGI
- abnormal fungiform papillae morphology / MGI
- small adenohypophysis / MGI
- decreased somatotroph cell number / MGI
- enlarged lateral ventricles / MGI
- enlarged third ventricle / MGI
- increased trophoblast giant cell number / MGI
- absent palatine gland / MGI
- absent anterior lingual gland / MGI
- abnormal neuron differentiation / MGI
- abnormal epiglottis morphology / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- embryonic lethality between implantation and placentation, complete penetrance / MGI
- embryonic lethality between implantation and somite formation, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- absent embryonic epiblast / MGI
- abnormal adenohypophysis development / MGI
- bifurcated Rathke's pouch / MGI
- tongue inflammation / MGI
- abnormal Ebner's gland morphology / 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
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