IMPC phenotypes (gene matching)
- increased exploration in new environment / IMPC
C57BL/6J-Cntnap2em3.1H/H
| Status | Available to order |
| EMMA ID | EM:16100 |
| Citation information | RRID:IMSR_EM:16100 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 | C57BL/6J-Cntnap2em3.1H/H |
| Alternative name | C57BL/6J-Cntnap2 |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Cntnap2em3.1 |
| Gene/Transgene symbol | Cntnap2 |
Information from provider
| Provider | Mary Lyon Centre at MRC Harwell |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | Cntnap2 interacts with voltage gated potassium channels and plays a role in neuronal migration during development and synapse formation. Loss of function mutations in Cntnap2 have been implicated in multiple neurological disorders including autism spectrum disorder, seizures, and sensory disturbance. This strain was generated by cre-mediated excision of exon 4 in strain C57BL/6J-Cntnap2em3H/H (EM:13027) leading to a null mutation. |
| Phenotypic information | Homozygous:no data availableHeterozygous:no data available |
| Breeding history | Coisogenic on C57BL/6J |
| References | None available |
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Pitt-Hopkins-like syndrome / Orphanet_221150
- Cortical dysplasia-focal epilepsy syndrome / Orphanet_163681
MGI phenotypes (gene matching)
- abnormal corpus callosum morphology / MGI
- decreased body size / MGI
- social withdrawal / MGI
- hyperactivity / MGI
- increased stereotypic behavior / MGI
- increased grooming behavior / MGI
- abnormal nest building behavior / MGI
- abnormal motor coordination/balance / MGI
- abnormal olfaction / MGI
- seizures / MGI
- astrocytosis / MGI
- abnormal response to novel odor / MGI
- nervous system phenotype / MGI
- decreased thermal nociceptive threshold / MGI
- abnormal brain interneuron morphology / MGI
- abnormal neuron physiology / MGI
- abnormal brain wave pattern / MGI
- behavior/neurological phenotype / MGI
- abnormal neuronal migration / MGI
- environmentally induced seizures / MGI
- cognitive inflexibility / MGI
- abnormal inhibitory learning / MGI
- decreased vocalization / MGI