IMPC phenotypes (gene matching)
C57BL/6-Spasttm1.1Evre/H
| Status | Available to order |
| EMMA ID | EM:15025 |
| Citation information | RRID:IMSR_EM:15025 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/6-Spasttm1.1Evre/H |
| Alternative name | C57BL/6-SpastinN384K knock-in |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Spasttm1.1Evre |
| Gene/Transgene symbol | Spast |
Information from provider
| Provider | Evan Reid |
| Provider affiliation | Medical Genetics, University of Cambridge |
| Genetic information | The mice are knocked-in for a mutation in exon 8 of the spastin gene (Spast c.1152c |
| Phenotypic information | Homozygous:The mice are generally healthy but develop a subclinical gait abnormality that is not generally obvious on daily husbandry, but which can be detected by quantitative gait testing.Heterozygous:No phenotype is present. |
| Breeding history | The lines were frozen after 1-2 sibmatings. |
| References |
|
| Homozygous fertile | females only |
| 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
- Autosomal dominant spastic paraplegia type 4 / Orphanet_100985
Literature references
- Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia.;Allison Rachel, Edgar James R, Pearson Guy, Rizo Tania, Newton Timothy, Günther Sven, Berner Fiamma, Hague Jennifer, Connell James W, Winkler Jürgen, Lippincott-Schwartz Jennifer, Beetz Christian, Winner Beate, Reid Evan, ;2017;The Journal of cell biology;216;1337-1355; 28389476
- Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin.;Connell James W, Allison Rachel, Reid Evan, ;2016;PloS one;11;e0152413; 27019090