Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No 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 lean body mass | Spns1tm1e(EUCOMM)Wtsi | HET | Early adult | 2.47×10-07 | ||
increased total body fat amount | Spns1tm1e(EUCOMM)Wtsi | HET | Early adult | 4.77×10-05 | ||
increased heart weight | Spns1tm1e(EUCOMM)Wtsi | HET | Early adult | 7.62×10-06 |
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 Spns1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Ethanolaminosis | Cardiomegaly | OMIM:227150 | |
Cardiomyopathy, Dilated, 1I | Dilated cardiomyopathy, Cardiomegaly | OMIM:604765 | |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome | Obesity, Cardiomegaly | ORPHA:88643 | |
Mitochondrial Complex I Deficiency, Nuclear Type 39 | Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... | OMIM:620135 | |
Cardiomyopathy, Familial Hypertrophic, 27 | Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... | OMIM:618052 | |
Congenital Tricuspid Valve Dysplasia | Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... | ORPHA:555874 | |
Double Outlet Left Ventricle | Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... | ORPHA:3427 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Spns1tm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | Mice, ES Cells |
Spns1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Spns1tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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