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 predicted to be associated to Mtmr12 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Retinal Dysplasia, Primary | Retinal dysplasia, Falciform retinal fold | OMIM:312550 | |
Stargardt Disease 1 | Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy | OMIM:248200 | |
Exudative Vitreoretinopathy 7 | Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration | OMIM:617572 | |
Exudative Vitreoretinopathy 3 | Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold | OMIM:605750 | |
Retinoschisis 1, X-Linked, Juvenile | Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... | OMIM:312700 | |
Reese Retinal Dysplasia | Remnants of the hyaloid vascular system, Retinal dysplasia | OMIM:266400 | |
Coloboma Of Optic Nerve | Retinal detachment, Optic disc coloboma | OMIM:120430 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Mtmr12tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Mtmr12tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
Mtmr12tm1b(KOMP)Wtsi | Reporter-tagged deletion allele (with selection cassette) | Mice |
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