IMPC phenotypes (gene matching)
B6;129-Arhgef6tm1Kkut/Biat
| Status | Available to order |
| EMMA ID | EM:07499 |
| Citation information | RRID:IMSR_EM:07499 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;129-Arhgef6tm1Kkut/Biat |
| Alternative name | Arhgef6 Knockout |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Arhgef6tm1Kkut |
| Gene/Transgene symbol | Arhgef6 |
Information from provider
| Provider | Kerstin Kutsche |
| Provider affiliation | Institut fuer Humangenetik, Universitaetsklinikum Hamburg-Eppendorf |
| Genetic information | Arhgef6 Y/- |
| Phenotypic information | Impaired structural and synaptic plasticity and cognitive deficits. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | University of Veterinary Medicine, Vienna, Austria |
| Animals used for archiving | heterozygous C57BL/6J males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- X-linked non-syndromic intellectual disability / Orphanet_777
MGI phenotypes (gene matching)
- abnormal humoral immune response / MGI
- abnormal T cell physiology / MGI
- abnormal B cell number / MGI
- abnormal B cell physiology / MGI
- decreased lymphocyte cell number / MGI
- decreased B cell proliferation / MGI
- decreased T cell proliferation / MGI
- decreased CD4-positive, alpha beta T cell number / MGI
- decreased CD8-positive, alpha-beta T cell number / MGI
- decreased mature B cell number / MGI
- decreased interleukin-2 secretion / MGI
Literature references
- Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.;Ramakers Ger J A, Wolfer David, Rosenberger Georg, Kuchenbecker Kerstin, Kreienkamp Hans-Jürgen, Prange-Kiel Janine, Rune Gabriele, Richter Karin, Langnaese Kristina, Masneuf Sophie, Bösl Michael R, Fischer Klaus-Dieter, Krugers Harm J, Lipp Hans-Peter, van Galen Elly, Kutsche Kerstin, ;2012;Human molecular genetics;21;268-86; 21989057