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 Tmem63a by orthology or direct annotation.
The table below shows human diseases predicted to be associated to Tmem63a by phenotypic similarity.
|Psychogenic Movement Disorders||
|Benign Hereditary Chorea||
|Vertigo, Benign Recurrent||
|Ataxia-Oculomotor Apraxia Type 1||
||Gait disturbance, Ataxia||ORPHA:1168|
|Early-Onset Generalized Limb-Onset Dystonia||
|Spinocerebellar Ataxia 41||
||Unsteady gait, Ataxia||OMIM:616410|
|Autosomal Dominant Striatal Neurodegeneration||
||Gait disturbance, Dysdiadochokinesis, Bradykinesia||ORPHA:228169|
|Leukodystrophy, Hypomyelinating, 19, Transient Infantile||
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|MGI Allele||Allele Type||Produced|
|Tmem63atm1a(EUCOMM)Hmgu||KO first allele (reporter-tagged insertion with conditional potential)||Targeting vectors, ES Cells|
|Tmem63atm1(KOMP)Vlcg||Reporter-tagged deletion allele (with selection cassette)||Mice, ES Cells|