IMPC phenotypes (gene matching)
B6.129S2-Nr2f1tm2Mist/Cnrm
| Status | Available to order |
| EMMA ID | EM:01793 |
| 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