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 Necap1 by orthology or direct annotation.
| Disease | Similarity of phenotypes |
Matching phenotypes | Source |
|---|---|---|---|
| Non-Specific Early-Onset Epileptic Encephalopathy | ORPHA:442835 | ||
| Developmental And Epileptic Encephalopathy 21 | OMIM:615833 |
The table below shows human diseases predicted to be associated to Necap1 by phenotypic similarity.
| Disease | Similarity of phenotypes |
Matching phenotypes | Source |
|---|---|---|---|
| Non-Specific Early-Onset Epileptic Encephalopathy | ORPHA:442835 | ||
| Developmental And Epileptic Encephalopathy 21 | OMIM:615833 |
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| MGI Allele | Allele Type | Produced |
|---|---|---|
| Necap1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
| Necap1em1(IMPC)Bay | Exon Deletion | Mice |
| Necap1tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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