B6.129S2-Nr2f1tm1Mist/Cnrm
Status | Available to order |
EMMA ID | EM:04420 |
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, wild-type C57BL/6J |
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
IMPC phenotypes (gene matching)
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
Information on how we integrate external resources can be found here
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).