Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- No 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-Eb2 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Systemic Lupus Erythematosus | Leukopenia, Hemolytic anemia, Thrombocytopenia | ORPHA:536 | |
Sarcoidosis | Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia | ORPHA:797 | |
Sarcoidosis, Susceptibility To, 1 | Splenomegaly, Pancytopenia | OMIM:181000 | |
Follicular Lymphoma | Splenomegaly | ORPHA:545 | |
Systemic-Onset Juvenile Idiopathic Arthritis | Splenomegaly | ORPHA:85414 | |
Giant Cell Arteritis | ORPHA:397 | ||
Narcolepsy Type 1 | ORPHA:2073 | ||
Narcolepsy Type 2 | ORPHA:83465 | ||
Diffuse Cutaneous Systemic Sclerosis | ORPHA:220393 | ||
Autoimmune Pulmonary Alveolar Proteinosis | ORPHA:747 | ||
Bullous Pemphigoid | ORPHA:703 | ||
Multiple Sclerosis, Susceptibility To | OMIM:126200 | ||
Limited Cutaneous Systemic Sclerosis | ORPHA:220402 |
The table below shows human diseases predicted to be associated to H2-Eb2 by phenotypic similarity.
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MGI Allele | Allele Type | Produced |
---|---|---|
H2-Eb2tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
H2-Eb2tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
H2-Eb2em1(IMPC)J | Intra-exon deletion | Mice |
H2-Eb2em1(IMPC)Wtsi | Deletion | Mice |
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