MGI phenotypes (allele matching)
B6.129P2-Efnb1tm1Rha/RhaH
| Status | Available to order |
| EMMA ID | EM:05101 |
| Citation information | RRID:IMSR_EM:05101 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 | B6.129P2-Efnb1tm1Rha/RhaH |
| Alternative name | Efnb1LoxC57Bl/6 |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Efnb1tm1Rha |
| Gene/Transgene symbol | Efnb1 |
Information from provider
| Provider | Christian Babbs |
| Provider affiliation | Weatherall Institute of Molecular Medicine, University of Oxford |
| Additional owner | Prof. Ralf Adams, Max-Planck-Institut fuer molekulare Biomedizin, Muenster, Germany |
| Genetic information | Floxed Efnb1 gene, which when recombined produces a null allele. |
| Phenotypic information | Knockout mice exhibit omphalocele, mispaired sternabrae, palate abnormalities, skull abnormalities; females additionally exhibit polysyndactyly. Although there is hardly any difference in the viability of the conditional strain, the knockout line shows ~40% viability on the CBA background, while it shows perinatal lethality on the C57BL/6 background. |
| Breeding history | Backcrossed to C57BL/6 background over 10 generations. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
| Animals used for archiving | heterozygous C57BL/6 males |
| Breeding at archiving centre | Males were archived upon arrival at the archiving centre. No breeding was performed prior to archiving. |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Craniofrontonasal dysplasia / Orphanet_1520
MGI phenotypes (gene matching)
- abnormal tympanic ring morphology / MGI
- abnormal frontal bone morphology / MGI
- cleft palate / MGI
- abnormal rib morphology / MGI
- asymmetric rib joints / MGI
- polydactyly / MGI
- abnormal corpus callosum morphology / MGI
- abnormal oculomotor nerve morphology / MGI
- abnormal cranial ganglia morphology / MGI
- edema / MGI
- abnormal vibrissa morphology / MGI
- absent corpus callosum / MGI
- no phenotypic analysis / MGI
- omphalocele / MGI
- nervous system phenotype / MGI
- frontal bone foramen / MGI
- skeleton phenotype / MGI
- abnormal axon morphology / MGI
- decreased cranium height / MGI
- preaxial polydactyly / MGI
- absent palatal shelf / MGI
- cleft secondary palate / MGI
- sternebra fusion / MGI
- neonatal lethality, incomplete penetrance / MGI
- abnormal cardiac neural crest cell migration / MGI
- abnormal cranial neural crest cell migration / MGI
Literature references
- Control of skeletal patterning by ephrinB1-EphB interactions.;Compagni Amelia, Logan Malcolm, Klein Rüdiger, Adams Ralf H, ;2003;Developmental cell;5;217-30; 12919674