Gene: Mccc1 MGI:1919289
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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 retina outer nuclear layer morphology | Mccc1em1(IMPC)Bay | HET | Early adult | 5.12×10-05 | ||
abnormal embryo size | Mccc1em1(IMPC)Bay | HOM | E18.5 | 0.00 | ||
preweaning lethality, complete penetrance | Mccc1em1(IMPC)Bay | HOM | Early adult | 0.00 | ||
decreased total retina thickness | Mccc1em1(IMPC)Bay | HET | Early adult | 5.01×10-05 |
Human diseases caused by Mccc1 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 Mccc1 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
3-Methylcrotonyl-Coa Carboxylase Deficiency | ORPHA:6 | ||
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency | OMIM:210200 |
The table below shows human diseases predicted to be associated to Mccc1 by phenotypic similarity.
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MGI Allele | Allele Type | Produced |
---|---|---|
Mccc1tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
Mccc1tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Mccc1em1(IMPC)Bay | Exon Deletion | Mice |
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