IMPC phenotypes (gene matching)
B6.129S2-Nr2f1tm2Mist/Cnrm
| Status | Available to order |
| EMMA ID | EM:01793 |
| Citation information | RRID:IMSR_EM:01793 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 | B6.129S2-Nr2f1tm2Mist/Cnrm |
| Alternative name | COUP-TFI-lox |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Nr2f1tm2Mist |
| Gene/Transgene symbol | Nr2f1 |
Information from provider
| Provider | Michèle Studer |
| Provider affiliation | TIGEM (Telethon Institute of Genetics and Medicine) |
| Genetic information | Insertion of loxP sites flanking exon 3 of the Nr2f1 (COUP-TFI) gene. |
| Phenotypic information | None. |
| References |
|
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Optic atrophy-intellectual disability syndrome / Orphanet_401777
MGI phenotypes (allele matching)
- no phenotypic analysis / MGI
MGI phenotypes (gene matching)
- abnormal corpus callosum morphology / MGI
- abnormal cerebral cortex morphology / MGI
- absent barrels in primary somatosensory cortex / MGI
- abnormal glossopharyngeal ganglion morphology / MGI
- no swallowing reflex / MGI
- abnormal hearing physiology / MGI
- no abnormal phenotype detected / MGI
- abnormal brain commissure morphology / MGI
- abnormal neuron morphology / MGI
- abnormal axon guidance / MGI
- no phenotypic analysis / MGI
- abnormal cochlear sensory epithelium morphology / MGI
- nervous system phenotype / MGI
- abnormal cingulate gyrus morphology / MGI
- increased cochlear inner hair cell number / MGI
- increased cochlear outer hair cell number / MGI
- increased cochlear hair cell number / MGI
- abnormal orientation of outer hair cell stereociliary bundles / MGI
- abnormal orientation of inner hair cell stereociliary bundles / MGI
- abnormal cochlear hair cell development / MGI
- increased Deiters cell number / MGI
- abnormal axon morphology / MGI
- abnormal hippocampal commissure morphology / MGI
- abnormal anterior commissure morphology / MGI
- abnormal organ of Corti supporting cell differentiation / MGI
- short scala media / MGI
- neonatal lethality, incomplete penetrance / MGI
- perinatal lethality, complete penetrance / MGI
Literature references
- COUP-TFI regulates the balance of cortical patterning between frontal/motor and sensory areas.;Armentano Maria, Chou Shen-Ju, Tomassy Giulio Srubek, Leingärtner Axel, O'Leary Dennis D M, Studer Michèle, ;2007;Nature neuroscience;10;1277-86; 17828260