IMPC phenotypes (gene matching)
C3H;C-Tuba1aJna/H
| Status | Available to order |
| EMMA ID | EM:00377 |
| Citation information | RRID:IMSR_EM:00377 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 | C3H;C-Tuba1aJna/H |
| Alternative name | GENA227 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Tuba1aJna |
| Gene/Transgene symbol | Tuba1a |
Information from provider
| Provider | Pat Nolan |
| Provider affiliation | MRC Mammalian Genetics Unit |
| Phenotypic information | Mice heterozygous for this mutation have high locomotor activity which can be confirmed by monitoring locomotor activity for 35 minutes. Homozygotes have not been bred. |
| References |
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Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Lissencephaly due to TUBA1A mutation / Orphanet_171680
- Tubulinopathy-associated dysgyria / Orphanet_467166
MGI phenotypes (allele matching)
- abnormal cerebral cortex morphology / MGI
- abnormal visual cortex morphology / MGI
- abnormal hippocampus morphology / MGI
- abnormal dentate gyrus morphology / MGI
- abnormal Ammon gyrus morphology / MGI
- abnormal somatosensory cortex morphology / MGI
- decreased body weight / MGI
- decreased anxiety-related response / MGI
- hyperactivity / MGI
- abnormal nest building behavior / MGI
- abnormal hippocampal mossy fiber morphology / MGI
- abnormal auditory cortex morphology / MGI
- abnormal neuronal migration / MGI
- abnormal hippocampus pyramidal cell layer / MGI
- abnormal spatial working memory / MGI
- decreased hippocampus pyramidal cell number / MGI
MGI phenotypes (gene matching)
- abnormal cerebral cortex morphology / MGI
- abnormal visual cortex morphology / MGI
- abnormal hippocampus morphology / MGI
- abnormal dentate gyrus morphology / MGI
- abnormal Ammon gyrus morphology / MGI
- abnormal somatosensory cortex morphology / MGI
- decreased body weight / MGI
- decreased anxiety-related response / MGI
- hyperactivity / MGI
- abnormal nest building behavior / MGI
- abnormal hippocampal mossy fiber morphology / MGI
- abnormal neuron morphology / MGI
- abnormal response to novel object / MGI
- abnormal auditory cortex morphology / MGI
- abnormal neuronal migration / MGI
- abnormal dendrite morphology / MGI
- abnormal hippocampus pyramidal cell layer / MGI
- abnormal spatial working memory / MGI
- abnormal cerebral cortex pyramidal cell morphology / MGI
- decreased hippocampus pyramidal cell number / MGI
Literature references
- Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.;Keays David A, Tian Guoling, Poirier Karine, Huang Guo-Jen, Siebold Christian, Cleak James, Oliver Peter L, Fray Martin, Harvey Robert J, Molnár Zoltán, Piñon Maria C, Dear Neil, Valdar William, Brown Steve D M, Davies Kay E, Rawlins J Nicholas P, Cowan Nicholas J, Nolan Patrick, Chelly Jamel, Flint Jonathan, ;2007;Cell;128;45-57; 17218254