Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- 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.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
abnormal spleen morphology | A2ml1em1(IMPC)Tcp | HET | Early adult | 0.00 | ||
preweaning lethality, incomplete penetrance | A2ml1em1(IMPC)Tcp | HOM | Early adult | 0.00 | ||
abnormal spleen morphology | A2ml1em1(IMPC)Tcp | HOM | Early adult | 0.00 | ||
abnormal sternum morphology | A2ml1em1(IMPC)Tcp | HET | Early adult | 0.00 |
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 A2ml1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Cephalin Lipidosis | Abnormality of the spleen | OMIM:212800 | |
Tuftsin Deficiency | Abnormality of the spleen | OMIM:191150 | |
Ceroid storage disease | Abnormality of the spleen | OMIM:214200 | |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe | Bifid sternum | OMIM:140850 | |
Craniorachischisis | Bifid sternum | ORPHA:63260 | |
Coffin-Lowry Syndrome | Bifid sternum, Coxa valga, Short metacarpal, Tapered finger, Narrow iliac wing, Drumstick termina... | OMIM:303600 |
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