IMPC phenotypes (gene matching)
CBA.Cg-Bnc2Gt(pU21)18Imeg/Orl
| Status | Available to order |
| EMMA ID | EM:05123 |
| Citation information | RRID:IMSR_EM:05123 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 | CBA.Cg-Bnc2Gt(pU21)18Imeg/Orl |
| Alternative name | CBA.Ayu21-18 |
| Strain type | Gene-trap |
| Allele/Transgene symbol | Bnc2Gt(pU21)18Imeg |
| Gene/Transgene symbol | Bnc2 |
Information from provider
| Provider | Philippe Djian |
| Provider affiliation | CNRS/Université Paris Descartes |
| Additional owner | Dr. Kimi Araki, Institute of Molecular Embryology and Genetics, Kumamoto University, Japan |
| Genetic information | Insertion of the gene trap vector pU21 in the intron separating exons 2a and 3 of the Bnc2 gene. Disruption of the gene resulting in inactivation. |
| Phenotypic information | Neonatal lethality related to craniofacial abnormalities including cleft palate. |
| Breeding history | 10 backcrosses to CBA. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
| Animals used for archiving | heterozygous CBA males, wild-type CBA females |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Posterior urethral valve / Orphanet_93110
MGI phenotypes (allele matching)
- microcephaly / MGI
- parietal bone hypoplasia / MGI
- abnormal pterygoid process morphology / MGI
- small alisphenoid bone / MGI
- absent palatine bone / MGI
- abnormal maxillary shelf morphology / MGI
- frontal bone hypoplasia / MGI
- meteorism / MGI
- abnormal palate development / MGI
- decreased birth body size / MGI
- palatal shelves fail to meet at midline / MGI
- cleft secondary palate / MGI
- decreased tongue size / MGI
- neonatal lethality, complete penetrance / MGI
- wide sagittal suture / MGI
- large posterior fontanelle / MGI
MGI phenotypes (gene matching)
- microcephaly / MGI
- parietal bone hypoplasia / MGI
- abnormal pterygoid process morphology / MGI
- small alisphenoid bone / MGI
- absent palatine bone / MGI
- abnormal maxillary shelf morphology / MGI
- frontal bone hypoplasia / MGI
- meteorism / MGI
- abnormal palate development / MGI
- decreased birth body size / MGI
- palatal shelves fail to meet at midline / MGI
- cleft secondary palate / MGI
- decreased tongue size / MGI
- neonatal lethality, complete penetrance / MGI
- wide sagittal suture / MGI
- large posterior fontanelle / MGI
Literature references
- Basonuclin 2 has a function in the multiplication of embryonic craniofacial mesenchymal cells and is orthologous to disco proteins.;Vanhoutteghem Amandine, Maciejewski-Duval Anna, Bouche Cyril, Delhomme Brigitte, Hervé Françoise, Daubigney Fabrice, Soubigou Guillaume, Araki Masatake, Araki Kimi, Yamamura Ken-ichi, Djian Philippe, ;2009;Proceedings of the National Academy of Sciences of the United States of America;106;14432-7; 19706529