Spast | spastin
Physiological systems
21 / 24 physiological systems tested
1 Significantly impacted by the knock-out
Nervous system
20 No significant impact
3 Not tested
Data collections
Gene metrics:2Significant phenotypes
2Associated diseases
Expression examined in:73Adult tissues
0Embryo tissues
| abnormal brain morphology | 1 supporting dataset | Spasttm1b(KOMP)Wtsi | homozygote | Early adult | N/A * | ||
| hydrocephaly | 1 supporting dataset | Spasttm1b(KOMP)Wtsi | homozygote | Early adult | N/A * |
| | | | | | | | | | |
| adrenal gland | heterozygote | n/a | 0% (0/2) | 0.7% (4/570) |
| aorta | heterozygote | n/a | 0% (0/2) | 0.19% (1/533) |
| blood | heterozygote | n/a | 0% (0/2) | 0% (0/17) |
| bone marrow | heterozygote | n/a | 0% (0/2) | 0% (0/22) |
| brain | heterozygote | n/a | 100% (2/2) | 0.86% (5/579) |
| brainstem | heterozygote | n/a | n/a | 0.41% (2/490) |
| brown adipose tissue | heterozygote | n/a | 0% (0/2) | 0% (0/588) |
| cartilage tissue | heterozygote | n/a | n/a | 0.22% (1/454) |
| cecum | heterozygote | Section images | 100% (1/1) | 7.75% (22/284) |
| cerebellum | heterozygote | n/a | 0% (0/2) | 0.56% (3/532) |
Human diseases caused by Spast mutations
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
External links
No external links available for Spast.
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| Spasttm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell mouse |
| Spasttm1b(KOMP)Wtsi | Reporter-tagged deletion allele (with selection cassette) | | mouse |