Gene: Ndufaf8 MGI:1913676
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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.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
abnormal forebrain development | Ndufaf8em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
preweaning lethality, complete penetrance | Ndufaf8em1(IMPC)Bay | HOM | Early adult | 0.00 | ||
embryonic growth retardation | Ndufaf8em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
abnormal heart morphology | Ndufaf8em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
abnormal midbrain development | Ndufaf8em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
abnormal embryo size | Ndufaf8em1(IMPC)Bay | HET | E12.5 | 0.00 | ||
embryonic lethality prior to tooth bud stage | Ndufaf8em1(IMPC)Bay | HOM | E12.5 | 0.00 | ||
embryonic growth retardation | Ndufaf8em1(IMPC)Bay | HET | E12.5 | 0.00 | ||
abnormal embryo size | Ndufaf8em1(IMPC)Bay | HOM | E9.5 | 0.00 |
Human diseases caused by Ndufaf8 mutations
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 Ndufaf8 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Mitochondrial Complex I Deficiency, Nuclear Type 34 | Intrauterine growth retardation | OMIM:618776 | |
Isolated Complex I Deficiency | Intrauterine growth retardation, Hypertrophic cardiomyopathy | ORPHA:2609 |
The table below shows human diseases predicted to be associated to Ndufaf8 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Aprosencephaly Syndrome | Aprosencephaly, Anencephaly | OMIM:207770 | |
Mitochondrial Complex I Deficiency, Nuclear Type 34 | Intrauterine growth retardation | OMIM:618776 | |
Aprosencephaly And Cerebellar Dysgenesis | Aprosencephaly | OMIM:601374 | |
Isolated Complex I Deficiency | Intrauterine growth retardation, Hypertrophic cardiomyopathy | ORPHA:2609 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Ndufaf8em1(IMPC)Bay | Exon Deletion | Mice |
Ndufaf8tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | ES Cells |
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