Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.
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 Kcnt2 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Developmental And Epileptic Encephalopathy 57 | OMIM:617771 |
The table below shows human diseases predicted to be associated to Kcnt2 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy | Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... | OMIM:619313 | |
Lissencephaly Syndrome, Norman-Roberts Type | Hypoplastic spleen | ORPHA:89844 | |
Stormorken Syndrome | Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen | OMIM:185070 | |
Gracile Bone Dysplasia | Asplenia, Hypoplastic spleen | OMIM:602361 | |
Ciliary Dyskinesia, Primary, 53 | Abdominal situs inversus, Hypoplastic spleen, Polysplenia | OMIM:620642 | |
Mirage Syndrome | Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen | OMIM:617053 | |
Pearson Syndrome | Ataxia, Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Pancytopenia, Abnormality... | ORPHA:699 | |
Microphthalmia, Syndromic 9 | Multilobulated spleen, Hypoplastic spleen | OMIM:601186 | |
Developmental And Epileptic Encephalopathy 57 | OMIM:617771 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Kcnt2tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Kcnt2tm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
Kcnt2em1(IMPC)Mbp | Exon Deletion | Mice, Tissue |
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