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 predicted to be associated to Als2cl by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Cramps, Familial Adolescent | Elevated circulating creatine kinase concentration | OMIM:218050 | |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase | Elevated circulating creatine kinase concentration | ORPHA:206599 | |
Muscle Cramps, Familial | Elevated circulating creatine kinase concentration | OMIM:158400 | |
Pentosuria | Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration | ORPHA:2843 | |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy | Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... | OMIM:241150 | |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive | Hyponatremia, Hyperkalemia, Increased circulating renin level | OMIM:620126 | |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive | Hyponatremia, Hyperkalemia, Increased circulating renin level | OMIM:620125 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Als2clem1(IMPC)J | Exon Deletion | Mice |
Als2cltm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Als2cltm44501(L1L2_gt1) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
Als2cltm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
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