Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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 H2-Eb1 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Giant Cell Arteritis | ORPHA:397 | ||
Sarcoidosis, Susceptibility To, 1 | OMIM:181000 | ||
Narcolepsy Type 1 | ORPHA:2073 | ||
Systemic-Onset Juvenile Idiopathic Arthritis | ORPHA:85414 | ||
Narcolepsy Type 2 | ORPHA:83465 | ||
Diffuse Cutaneous Systemic Sclerosis | ORPHA:220393 | ||
Systemic Lupus Erythematosus | ORPHA:536 | ||
Autoimmune Pulmonary Alveolar Proteinosis | ORPHA:747 | ||
Bullous Pemphigoid | ORPHA:703 | ||
Multiple Sclerosis, Susceptibility To | OMIM:126200 | ||
Sarcoidosis | ORPHA:797 | ||
Limited Cutaneous Systemic Sclerosis | ORPHA:220402 | ||
Follicular Lymphoma | ORPHA:545 |
The table below shows human diseases predicted to be associated to H2-Eb1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Scoliosis, Isolated, Susceptibility To, 1 | Scoliosis | OMIM:181800 | |
Giant Cell Arteritis | ORPHA:397 | ||
Sarcoidosis, Susceptibility To, 1 | OMIM:181000 | ||
Narcolepsy Type 1 | ORPHA:2073 | ||
Systemic-Onset Juvenile Idiopathic Arthritis | ORPHA:85414 | ||
Narcolepsy Type 2 | ORPHA:83465 | ||
Diffuse Cutaneous Systemic Sclerosis | ORPHA:220393 | ||
Systemic Lupus Erythematosus | ORPHA:536 | ||
Autoimmune Pulmonary Alveolar Proteinosis | ORPHA:747 | ||
Bullous Pemphigoid | ORPHA:703 | ||
Multiple Sclerosis, Susceptibility To | OMIM:126200 | ||
Sarcoidosis | ORPHA:797 | ||
Limited Cutaneous Systemic Sclerosis | ORPHA:220402 | ||
Follicular Lymphoma | ORPHA:545 |
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 H2-Eb1.
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) | H2-Eb1tm1a(KOMP)Wtsi | PMC7263671 |
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. | Nature communications (August 2019) | H2-Eb1tm1a(KOMP)Wtsi | PMC6671969 |
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. | PLoS biology (April 2019) | H2-Eb1tm1a(KOMP)Wtsi | PMC6459510 |
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. | Scientific data (September 2017) | H2-Eb1tm1a(KOMP)Wtsi | PMC5827107 |
A Genome-Wide Association Study for Regulators of Micronucleus Formation in Mice. | G3 (Bethesda, Md.) (August 2016) | H2-Eb1tm1a(KOMP)Wtsi | PMC4978889 |
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 |
---|---|---|
H2-Eb1b-tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
H2-Eb1b-tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
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