Bloc1s5 | biogenesis of lysosomal organelles complex-1, subunit 5, muted
Physiological systems
20 / 24 physiological systems tested
7 Significantly impacted by the knock-out
Reproductive system Pigmentation Integument Endocrine/exocrine gland Vision/eye Mortality/aging Cardiovascular system
13 No significant impact
4 Not tested
Data collections
Gene metrics:9Significant phenotypes
2Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| preweaning lethality, incomplete penetrance | 2 supporting datasets | Bloc1s5em1(IMPC)Tcp | homozygote | Early adult | N/A * | ||
| abnormal skin coloration | 1 supporting dataset | Bloc1s5em1(IMPC)Tcp | homozygote | Early adult | 1.1x10-8 | ||
| abnormal iris pigmentation | 1 supporting dataset | Bloc1s5em1(IMPC)Tcp | homozygote | Early adult | 1.57x10-8 | ||
| abnormal coat/hair pigmentation | 3 supporting datasets | Bloc1s5em1(IMPC)Tcp | homozygote | Early adult | 1.1x10-8 | ||
| abnormal seminal vesicle morphology | 1 supporting dataset | Bloc1s5em1(IMPC)Tcp | homozygote | Early adult | N/A * | ||
| abnormal iris morphology | 1 supporting dataset | Bloc1s5em1(IMPC)Tcp | homozygote | Early adult | 1.71x10-7 | ||
| abnormal skin morphology | 1 supporting dataset | Bloc1s5em1(IMPC)Tcp | homozygote | Early adult | N/A * | ||
| abnormal retina blood vessel morphology | 1 supporting dataset | Bloc1s5em1(IMPC)Tcp | homozygote | Early adult | 1.61x10-8 | ||
| abnormal retina morphology | 1 supporting dataset | Bloc1s5em1(IMPC)Tcp | homozygote | Early adult | 2.74x10-6 |
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Human diseases caused by Bloc1s5 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 Bloc1s5.
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| Bloc1s5em1(IMPC)Tcp | Exon Deletion | | mouse |
| Bloc1s5tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | | ES Cell |
| Bloc1s5tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |