Atp6v1h | ATPase, H+ transporting, lysosomal V1 subunit H
Physiological systems
20 / 24 physiological systems tested
3 Significantly impacted by the knock-out
Vision/eye Mortality/aging Cardiovascular system
17 No significant impact
4 Not tested
Data collections
Gene metrics:3Significant phenotypes
0Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| preweaning lethality, complete penetrance | 3 supporting datasets | Atp6v1hem1(IMPC)Bay | homozygote | Early adult | N/A * | ||
| abnormal retina vasculature morphology | 1 supporting dataset | Atp6v1hem1(IMPC)Bay | heterozygote | Early adult | 4.9x10-5 | ||
| embryonic lethality prior to organogenesis | 1 supporting dataset | Atp6v1hem1(IMPC)Bay | homozygote | E9.5 | N/A * |
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Human diseases caused by Atp6v1h 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 Atp6v1h.
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| Atp6v1hem1(IMPC)Bay | Exon Deletion | | mouse |
| Atp6v1htm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |
| Atp6v1htm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | | ES Cell |