IMPC phenotypes (gene matching)
B6.129S2-Nr2f1tm1Mist/Cnrm
| Status | Available to order |
| EMMA ID | EM:04420 |
| Citation information | RRID:IMSR_EM:04420 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-Nr2f1tm1Mist/Cnrm |
| Alternative name | COUP-TFI null |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Nr2f1tm1Mist |
| Gene/Transgene symbol | Nr2f1 |
Information from provider
| Provider | Michele Studer |
| Provider affiliation | Telethon Institute of Genetics and Medicine |
| Genetic information | Targeting construct is derived from 129 DNA. The deletion comprises the 3rd exon and 3'UTR and has been obtained by the Cre-lox technology. A loxP site is maintained. |
| Phenotypic information | Embryonic defects in the central and peripheral nervous system. Lethal at birth. |
| Breeding history | The line is being bred for more than 10 generations on a C57BL/6 strain, but it is not pure yet. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
| Animals used for archiving | heterozygous C57BL/6.129/Sv males, wild-type C57BL/6J females |
| Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Optic atrophy-intellectual disability syndrome / Orphanet_401777
MGI phenotypes (allele matching)
- abnormal corpus callosum morphology / MGI
- abnormal cerebral cortex morphology / MGI
- abnormal brain commissure morphology / MGI
- abnormal neuron morphology / MGI
- abnormal axon guidance / MGI
- abnormal cingulate gyrus morphology / MGI
- abnormal axon morphology / MGI
- abnormal hippocampal commissure morphology / MGI
- abnormal anterior commissure morphology / MGI
- perinatal lethality, complete penetrance / 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 is required for the formation of commissural projections in the forebrain by regulating axonal growth.;Armentano Maria, Filosa Alessandro, Andolfi Gennaro, Studer Michèle, ;2006;Development (Cambridge, England);133;4151-62; 17021036