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.
|Retinal Dysplasia, Primary||
||Falciform retinal fold, Retinal dysplasia||OMIM:312550|
|Retinoschisis, Autosomal Dominant||
||Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis||OMIM:180270|
|Stargardt Disease 1||
||Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration||OMIM:248200|
|Exudative Vitreoretinopathy 3||
||Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate||OMIM:605750|
|Lattice Degeneration Of Retina Leading To Retinal Detachment||
||Retinal detachment, Lattice retinal degeneration||OMIM:150500|
|Retinoschisis 1, X-Linked, Juvenile||
||Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy...||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|