Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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.
The table below shows human diseases associated to Atp6v1e1 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Cutis Laxa, Autosomal Recessive, Type Iic | OMIM:617402 | ||
Autosomal Recessive Cutis Laxa Type 2, Classic Type | ORPHA:357074 |
The table below shows human diseases predicted to be associated to Atp6v1e1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Cutis Laxa, Autosomal Recessive, Type Iic | OMIM:617402 | ||
Autosomal Recessive Cutis Laxa Type 2, Classic Type | ORPHA:357074 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Atp6v1e1tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Atp6v1e1em1(IMPC)Rbrc | Exon Deletion | Mice |
Atp6v1e1tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
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