Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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 predicted to be associated to Capn6 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Tongue, Pigmented Fungiform Papillae Of | Abnormality of the tongue | OMIM:275250 | |
Melkersson-Rosenthal Syndrome | Facial palsy, Furrowed tongue | OMIM:155900 | |
Macroglossia | Macroglossia | OMIM:153630 | |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency | Furrowed tongue | OMIM:165150 | |
Cleft Palate With Or Without Ankyloglossia, X-Linked | Ankyloglossia, Bifid uvula, Cleft palate | OMIM:303400 | |
Ankyloglossia With Or Without Tooth Anomalies | Supernumerary tooth, Ankyloglossia | OMIM:106280 | |
Congenital Muscular Dystrophy With Intellectual Disability | Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... | ORPHA:370968 | |
Steinert Myotonic Dystrophy | Skeletal muscle atrophy, Tented upper lip vermilion, Intestinal pseudo-obstruction, Abnormality o... | ORPHA:273 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Capn6tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
Capn6tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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