IMPC phenotypes (gene matching)
C3H;C-Tuba1aJna/H
| Status | Available to order |
| EMMA ID | EM:00377 |
| 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 |
|
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