Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- No Viability Data
Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.
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 predicted to be associated to Sh3bgrl3 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type | Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis | ORPHA:86923 | |
Hyperkeratosis Lenticularis Perstans | Hyperkeratosis lenticularis perstans | OMIM:144150 | |
Ichthyosis Hystrix, Lambert Type | Hyperkeratosis, Orthokeratotic hyperkeratosis | OMIM:146600 | |
Angioma Serpiginosum, Autosomal Dominant | Hyperkeratosis | OMIM:106050 | |
Papillomatosis, Confluent And Reticulated | Hyperkeratosis | OMIM:167900 | |
Palmoplantar Keratoderma-Deafness Syndrome | Hyperkeratosis, Palmoplantar keratoderma | ORPHA:2202 |
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 Sh3bgrl3.
There are 5 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) | Sh3bgrl3tm2b(EUCOMM)Wtsi | PMC7263671 |
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. | Nature immunology (December 2019) | Sh3bgrl3tm2b(EUCOMM)Wtsi | PMC7338221 |
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. | Nature communications (August 2019) | Sh3bgrl3tm2b(EUCOMM)Wtsi | PMC6671969 |
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. | PLoS biology (April 2019) | Sh3bgrl3tm2b(EUCOMM)Wtsi | PMC6459510 |
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. | Scientific data (September 2017) | Sh3bgrl3tm2b(EUCOMM)Wtsi | PMC5827107 |
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 |
---|---|---|
Sh3bgrl3tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | ES Cells |
Sh3bgrl3tm2e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
Sh3bgrl3tm2a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Sh3bgrl3tm2b(EUCOMM)Wtsi | Reporter-tagged deletion allele (with selection cassette) | Mice |
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