MGI phenotypes (gene matching)
B6JOla.129S1-Cntn2tm1Furl/H
| Status | Available to order |
| EMMA ID | EM:11479 |
| Citation information | RRID:IMSR_EM:11479 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 | B6JOla.129S1-Cntn2tm1Furl/H |
| Alternative name | Cntn2tm1Furl |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Cntn2tm1Furl |
| Gene/Transgene symbol | Cntn2 |
Information from provider
| Provider | Andrew Furley |
| Provider affiliation | Biomedical Science, University of Sheffield |
| Genetic information | Exons 2 through 5 were replaced with a cassette containing tau-lacZ and neo. The deleted region included the start codon, and sequence encoding the signal peptide and first two Ig domains. Neither transcript nor protein was detected by RT-PCR and Western blot analysis of homozygous mutant mice. Immunolabeling of sciatic nerve tissue showed no specific staining (http://www.informatics.jax.org/reference/J:85502). |
| Phenotypic information | Homozygous:Mice have no obvious morphological defects, but on average are smaller than wild type littermates. We have traced axon guidance defects in embryonic sensory afferents (TrkA+; Law et al., http://dev.biologists.org/content/135/14/2361) and some residual clusters of granule neuron progenitors in the adult cerebellum (Xenaki et al., http://dev.biologists.org/content/138/3/519).Heterozygous:Heterozygotes mostly indistinguishable from litter mates, though sometimes are also smaller. |
| Breeding history | Produced in W9.5 cells (Colin Stewart; 129S1/Sv-Oca2+ Tyr+ Kitl+; http://www.research.uci.edu/facilities-services/tmf/presentations/Mouse_ES_CellLine.pdf), backcrossed from start to C57BL/6J (Mill Hill) and specifically to C57BL/6J0laHsd (Sheffield), more than 10 generations. |
| References |
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| Homozygous fertile | males only |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
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
- Benign adult familial myoclonic epilepsy / Orphanet_86814
Literature references
- Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1.;Poliak Sebastian, Salomon Daniela, Elhanany Hadas, Sabanay Helena, Kiernan Brent, Pevny Larysa, Stewart Colin L, Xu Xiaorong, Chiu Shing-Yan, Shrager Peter, Furley Andrew J W, Peles Elior, ;2003;The Journal of cell biology;162;1149-60; 12963709
- The neural adhesion molecule TAG-1 modulates responses of sensory axons to diffusible guidance signals.;Law Chris O, Kirby Rebecca J, Aghamohammadzadeh Soheil, Furley Andrew J W, ;2008;Development (Cambridge, England);135;2361-71; 18550718
- F3/contactin and TAG1 play antagonistic roles in the regulation of sonic hedgehog-induced cerebellar granule neuron progenitor proliferation.;Xenaki Dia, Martin Indira B, Yoshida Lynn, Ohyama Kyoji, Gennarini Gianfranco, Grumet Martin, Sakurai Takeshi, Furley Andrew J W, ;2011;Development (Cambridge, England);138;519-29; 21205796
- The juxtaparanodal proteins CNTNAP2 and TAG1 regulate diet-induced obesity.;Buchner David A, Geisinger Jon M, Glazebrook Patricia A, Morgan Michael G, Spiezio Sabrina H, Kaiyala Karl J, Schwartz Michael W, Sakurai Takeshi, Furley Andrew J, Kunze Diana L, Croniger Colleen M, Nadeau Joseph H, ;2012;Mammalian genome : official journal of the International Mammalian Genome Society;23;431-42; 22752552
- TAG1 regulates the endocytic trafficking and signaling of the semaphorin3A receptor complex.;Dang Puneet, Smythe Elizabeth, Furley Andrew J W, ;2012;The Journal of neuroscience : the official journal of the Society for Neuroscience;32;10370-82; 22836270
- A forward genetic screen in mice identifies mutants with abnormal cortical patterning.;Ha Seungshin, Stottmann Rolf W, Furley Andrew J, Beier David R, ;2015;Cerebral cortex (New York, N.Y. : 1991);25;167-79; 23968836
- Multiple molecular interactions determine the clustering of Caspr2 and Kv1 channels in myelinated axons.;Horresh Ido, Poliak Sebastian, Grant Seth, Bredt David, Rasband Matthew N, Peles Elior, ;2008;The Journal of neuroscience : the official journal of the Society for Neuroscience;28;14213-22; 19109503