Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- No Viability Data
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 Bola3 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia | OMIM:614299 |
The table below shows human diseases predicted to be associated to Bola3 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia | OMIM:614299 |
The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bola3.
There are 4 publications which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. | G3 (Bethesda, Md.) (June 2020) | Bola3tm1b(EUCOMM)Wtsi | PMC7263671 |
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. | American journal of human genetics (October 2019) | Bola3tm1a(EUCOMM)Wtsi | 31668704 |
Mitochondrial lipoylation integrates age-associated decline in brown fat thermogenesis. | Nature metabolism (September 2019) | Bola3tm1a(EUCOMM)Wtsi | PMC7169975 |
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. | Nature communications (August 2019) | Bola3tm1b(EUCOMM)Wtsi | PMC6671969 |
All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.
MGI Allele | Allele Type | Produced |
---|---|---|
Bola3tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Bola3tm1b(EUCOMM)Wtsi | Reporter-tagged deletion allele (with selection cassette) | Mice |
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