Stxbp1 | syntaxin binding protein 1
Physiological systems
19 / 24 physiological systems tested
8 Significantly impacted by the knock-out
Homeostasis/metabolism Embryo Growth/size/body region Hearing/vestibular/ear Hematopoietic system Behavior/neurological Mortality/aging Cardiovascular system
11 No significant impact
5 Not tested
Gene metrics:12Significant phenotypes
3Associated diseases
Expression examined in:48Adult tissues
52Embryo tissues
| hyperactivity | 6 supporting datasets | Stxbp1tm1b(EUCOMM)Hmgu | heterozygote | Early adult | 1.43x10-13 | ||
| impaired glucose tolerance | 1 supporting dataset | Stxbp1tm1b(EUCOMM)Hmgu | heterozygote | Early adult | 7.07x10-7 | ||
| increased thigmotaxis | 4 supporting datasets | Stxbp1tm1b(EUCOMM)Hmgu | heterozygote | Early adult | 1.98x10-5 | ||
| hemorrhage | 1 supporting dataset | Stxbp1tm1b(EUCOMM)Hmgu | homozygote | E18.5 | N/A * | ||
| abnormal embryo size | 1 supporting dataset | Stxbp1tm1b(EUCOMM)Hmgu | homozygote | E18.5 | N/A * | ||
| edema | 1 supporting dataset | Stxbp1tm1b(EUCOMM)Hmgu | homozygote | E18.5 | N/A * | ||
| decreased hematocrit | 1 supporting dataset | Stxbp1tm1b(EUCOMM)Hmgu | heterozygote | Early adult | 4.45x10-7 | ||
| abnormal auditory brainstem response | 1 supporting dataset | Stxbp1tm1b(EUCOMM)Hmgu | heterozygote | Early adult | 9.09x10-5 | ||
| increased exploration in new environment | 1 supporting dataset | Stxbp1tm1b(EUCOMM)Hmgu | heterozygote | Early adult | 2.58x10-8 | ||
| preweaning lethality, complete penetrance | 1 supporting dataset | Stxbp1tm1b(EUCOMM)Hmgu | homozygote | Early adult | N/A * |
| | | | | | | | | | |
| adrenal gland | heterozygote | Section images | 100% (2/2) | 0.7% (4/570) |
| aorta | heterozygote | Section images | 100% (2/2) | 0.19% (1/533) |
| brain | heterozygote | Section images | 100% (2/2) | 0.86% (5/579) |
| brainstem | heterozygote | Section images | 100% (2/2) | 0.41% (2/490) |
| brown adipose tissue | heterozygote | n/a | 0% (0/2) | 0% (0/588) |
| cartilage tissue | heterozygote | Section images | 100% (2/2) | 0.22% (1/454) |
| cerebellum | heterozygote | Section images | 100% (2/2) | 0.56% (3/532) |
| cerebral cortex | heterozygote | Section images | 100% (2/2) | 0.41% (2/491) |
| epididymis | heterozygote | Section images | 100% (1/1) | 87.5% (21/24) |
| esophagus | heterozygote | Section images | 100% (2/2) | 1.67% (7/419) |
Human diseases caused by Stxbp1 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 Stxbp1.
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| Stxbp1tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | | ES Cell |
| Stxbp1tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell mouse |
| Stxbp1tm1b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | | mouse |
| Stxbp1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | | ES Cell |
| Stxbp1tm26688(L1L2_gt0) | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector |