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 |
---|---|---|---|---|---|---|
increased circulating creatine kinase level | Cd300ld2em1(IMPC)Wtsi | HOM | Early adult | 3.68×10-05 | ||
increased circulating aspartate transaminase level | Cd300ld2em1(IMPC)Wtsi | HOM | Early adult | 2.04×10-05 | ||
increased circulating alanine transaminase level | Cd300ld2em1(IMPC)Wtsi | HOM | Early adult | 2.77×10-09 | ||
increased lean body mass | Cd300ld2em1(IMPC)Wtsi | HOM | Early adult | 8.14×10-06 |
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 Cd300ld2 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Cramps, Familial Adolescent | Elevated circulating creatine kinase concentration | OMIM:218050 | |
Muscle Cramps, Familial | Elevated circulating creatine kinase concentration | OMIM:158400 | |
Pentosuria | Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level | ORPHA:2843 | |
Proximal Myopathy With Focal Depletion Of Mitochondria | Elevated circulating creatine kinase concentration | OMIM:600706 | |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase | Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration | ORPHA:206599 | |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates | Elevated circulating creatine kinase concentration | ORPHA:88635 | |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans | Elevated circulating creatine kinase concentration | OMIM:160570 | |
Erythrocyte Lactate Transporter Defect | Elevated circulating creatine kinase concentration | OMIM:245340 |
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 Cd300ld2.
There are 2 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) | Cd300ld2em1(IMPC)Wtsi | PMC7263671 |
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. | Nature communications (August 2019) | Cd300ld2em1(IMPC)Wtsi | PMC6671969 |
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