Sbk1 | SH3-binding kinase 1
GeneMGI:2135937
Physiological systems
21 / 24 physiological systems tested
3 Significantly impacted by the knock-out
Integument Vision/eye Mortality/aging
18 No significant impact
3 Not tested
Gene metrics:5Significant phenotypes
0Associated diseases
Expression examined in:51Adult tissues
62Embryo tissues
| decreased total retina thickness | 1 supporting dataset | Sbk1tm1b(EUCOMM)Wtsi | heterozygote | Early adult | 6.05x10-5 | ||
| preweaning lethality, incomplete penetrance | 3 supporting datasets | Sbk1tm1b(EUCOMM)Wtsi | homozygote | Early adult | N/A * | ||
| abnormal coat appearance | 1 supporting dataset | Sbk1tm1b(EUCOMM)Wtsi | heterozygote | Early adult | 1.69x10-8 | ||
| abnormal eye anterior chamber depth | 1 supporting dataset | Sbk1tm1b(EUCOMM)Wtsi | homozygote | Early adult | 4.49x10-9 | ||
| abnormal eye anterior chamber depth | 1 supporting dataset | Sbk1tm1b(EUCOMM)Wtsi | heterozygote | Early adult | 4.46x10-8 | ||
| abnormal skin coloration | 1 supporting dataset | Sbk1tm1b(EUCOMM)Wtsi | heterozygote | Early adult | 1.1x10-5 |
| | | | | | | | | | |
| adrenal gland | heterozygote | n/a | 0% (0/2) | 0.7% (4/570) |
| aorta | heterozygote | n/a | 0% (0/2) | 0.19% (1/533) |
| bone | heterozygote | n/a | 0% (0/2) | 0% (0/394) |
| brain | heterozygote | Wholemount images | 100% (2/2) | 0.86% (5/579) |
| brainstem | heterozygote | n/a | 0% (0/2) | 0.41% (2/490) |
| brown adipose tissue | heterozygote | Wholemount images | 100% (2/2) | 0% (0/588) |
| cartilage tissue | heterozygote | n/a | 0% (0/2) | 0.22% (1/454) |
| cecum | heterozygote | n/a | 0% (0/1) | 7.75% (22/284) |
| cerebellum | heterozygote | Wholemount images | 100% (2/2) | 0.56% (3/532) |
| cerebral cortex | heterozygote | Wholemount images | 100% (2/2) | 0.41% (2/491) |
Human diseases caused by Sbk1 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 Sbk1.
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| Sbk1tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell mouse |
| Sbk1tm1b(EUCOMM)Wtsi | Reporter-tagged deletion allele (with selection cassette) | | mouse |
| Sbk1tm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | | ES Cell |