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 associated to Ndufaf2 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Isolated Complex I Deficiency | ORPHA:2609 | ||
Mitochondrial Complex I Deficiency, Nuclear Type 10 | OMIM:618233 |
The table below shows human diseases predicted to be associated to Ndufaf2 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Fraxf Syndrome | Folate-dependent fragile site at Xq28 | ORPHA:100974 | |
Mosaic Variegated Aneuploidy Syndrome 4 | Abnormality of chromosome stability | OMIM:620153 | |
Oxoglutaric Aciduria | Abnormality of Krebs cycle metabolism | ORPHA:31 | |
Isolated Complex I Deficiency | ORPHA:2609 | ||
Mitochondrial Complex I Deficiency, Nuclear Type 10 | OMIM:618233 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Ndufaf2tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Ndufaf2tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
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