IMPC phenotypes (gene matching)
STOCK Grxcr1pi-tde/Cnbc
| Status | Available to order |
| EMMA ID | EM:04895 |
| Citation information | RRID:IMSR_EM:04895 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 Grxcr1pi-tde/Cnbc |
| Alternative name | Tasmanian devil, Grxcr1 |
| Strain type | Transgenic Strains |
| Allele/Transgene symbol | Grxcr1pi-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 |
|
| 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
MGI phenotypes (gene matching)
- abnormal inner ear vestibule morphology / MGI
- organ of Corti degeneration / MGI
- circling / MGI
- bidirectional circling / MGI
- increased stereotypic behavior / MGI
- head bobbing / MGI
- impaired swimming / MGI
- abnormal reflex / MGI
- deafness / MGI
- abnormal vestibular ganglion morphology / MGI
- cochlear ganglion degeneration / MGI
- abnormal tectorial membrane morphology / MGI
- abnormal crista ampullaris morphology / MGI
- vestibular hair cell degeneration / MGI
- vestibular saccular macula degeneration / MGI
- cochlear hair cell degeneration / MGI
- stria vascularis degeneration / MGI
- abnormal cochlear inner hair cell morphology / MGI
- decreased cochlear nerve compound action potential / MGI
- abnormal type I vestibular cell / 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
- abnormal outer hair cell stereociliary bundle morphology / MGI
- abnormal inner hair cell stereociliary bundle morphology / MGI
- decreased inner hair cell stereocilia number / MGI
- short inner hair cell stereocilia / MGI
- abnormal cochlear hair bundle tip links morphology / MGI
- abnormal vestibular system physiology / MGI
- head tossing / MGI
- impaired hearing / MGI
- absent startle reflex / MGI
- absent inner hair cell kinocilia / MGI
- increased or absent threshold for auditory brainstem response / 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
- Grxcr1 regulates hair bundle morphogenesis and is required for normal mechanoelectrical transduction in mouse cochlear hair cells.;Lorente-Cánovas Beatriz, Eckrich Stephanie, Lewis Morag A, Johnson Stuart L, Marcotti Walter, Steel Karen P, ;2022;PloS one;17;e0261530; 35235570