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 |
---|---|---|---|---|---|---|
preweaning lethality, incomplete penetrance | S100a14tm1b(EUCOMM)Hmgu | HOM | Early adult | 0.00 | ||
increased circulating aspartate transaminase level | S100a14tm1b(EUCOMM)Hmgu | HET | Early adult | 5.46×10-05 | ||
preweaning lethality, complete penetrance | S100a14tm1b(EUCOMM)Hmgu | HOM | Early adult | 0.00 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Axial skeleton | N/A | heterozygote | 0.0% (0 of 2) |
N/A | Ambiguous | ||
Brain | N/A | heterozygote | 0.0% (0 of 5) |
Brain | N/A | homozygote | Ambiguous |
Central nervous system ganglion | N/A | heterozygote | 0.0% (0 of 2) |
N/A | Ambiguous | ||
Ear | N/A | heterozygote | 0.0% (0 of 5) |
Ear | N/A | homozygote | Ambiguous |
Embryo | N/A | heterozygote | 60% (3 of 5) |
Embryo | N/A | homozygote | 0.0% (0 of 2) |
Eye | N/A | heterozygote | 0.0% (0 of 5) |
Eye | N/A | homozygote | Ambiguous |
Footplate | N/A | heterozygote | 0.0% (0 of 5) |
Footplate | N/A | homozygote | Ambiguous |
Forebrain | N/A | heterozygote | 0.0% (0 of 5) |
Forebrain | N/A | homozygote | Ambiguous |
Forelimb | N/A | heterozygote | 0.0% (0 of 5) |
Forelimb | N/A | homozygote | Ambiguous |
Gut | N/A | heterozygote | 0.0% (0 of 2) |
N/A | Ambiguous | ||
Handplate | N/A | heterozygote | 0.0% (0 of 5) |
Handplate | N/A | homozygote | Ambiguous |
Head | N/A | heterozygote | 0.0% (0 of 5) |
Head | N/A | homozygote | Ambiguous |
Heart | N/A | heterozygote | 40% (2 of 5) |
Heart | N/A | homozygote | Ambiguous |
Hindbrain | N/A | heterozygote | 0.0% (0 of 5) |
Hindbrain | N/A | homozygote | Ambiguous |
Hindlimb | N/A | heterozygote | 0.0% (0 of 5) |
Hindlimb | N/A | homozygote | Ambiguous |
Liver | N/A | heterozygote | 0.0% (0 of 5) |
Liver | N/A | homozygote | Ambiguous |
Lung | N/A | heterozygote | 0.0% (0 of 5) |
Lung | N/A | homozygote | Ambiguous |
Mandibular process | N/A | heterozygote | 0.0% (0 of 5) |
Mandibular process | N/A | homozygote | Ambiguous |
Maxillary process | N/A | heterozygote | 0.0% (0 of 5) |
Maxillary process | N/A | homozygote | Ambiguous |
Midbrain | N/A | heterozygote | 0.0% (0 of 5) |
Midbrain | N/A | homozygote | Ambiguous |
Nose | N/A | heterozygote | 100% (2 of 2) |
N/A | Ambiguous | ||
Oral cavity | N/A | heterozygote | 0.0% (0 of 5) |
Oral cavity | N/A | homozygote | Ambiguous |
Skeleton | N/A | heterozygote | 0.0% (0 of 2) |
N/A | Ambiguous | ||
Skin | N/A | heterozygote | 0.0% (0 of 5) |
Skin | N/A | homozygote | Ambiguous |
Spinal cord | N/A | heterozygote | 0.0% (0 of 2) |
N/A | Ambiguous | ||
Tail somite | N/A | heterozygote | 0.0% (0 of 5) |
Tail somite | N/A | homozygote | Ambiguous |
Tail | N/A | heterozygote | 0.0% (0 of 5) |
Tail | N/A | homozygote | Ambiguous |
Trachea | N/A | heterozygote | 0.0% (0 of 2) |
N/A | Ambiguous | ||
Urinary system | N/A | heterozygote | 0.0% (0 of 2) |
N/A | Ambiguous |
Background staining occurs in wild type mice and embryos at an incidental rate.
Anatomy | Background staining in controls (WT) |
---|
Background staining occurs in wild type mice and embryos at an incidental rate.
Background staining occurs in wild type embryos at a measurable rate.
Anatomy | Background staining in controls(WT) |
---|---|
axial skeleton | 1.56% (1 of 64) |
brain | 1.17% (6 of 511) |
central nervous system ganglion | 1.37% (1 of 73) |
ear | 0.2% (1 of 511) |
embryo | 0.39% (2 of 512) |
eye | 0.2% (1 of 511) |
footplate | 0.2% (1 of 511) |
forebrain | 0.2% (1 of 511) |
forelimb | 0.2% (1 of 511) |
gut | 1.69% (1 of 59) |
handplate | 0.2% (1 of 511) |
head | 0.98% (5 of 511) |
heart | 0.2% (1 of 511) |
hindbrain | 1.17% (6 of 511) |
hindlimb | 0.2% (1 of 511) |
liver | 0.2% (1 of 506) |
lung | 0.2% (1 of 506) |
mandibular process | 0.2% (1 of 511) |
maxillary process | 0.2% (1 of 511) |
midbrain | 0.2% (1 of 511) |
nose | 1.28% (1 of 78) |
oral cavity | 0.2% (1 of 506) |
skeleton | 1.28% (1 of 78) |
skin | 0.2% (1 of 511) |
spinal cord | 1.39% (1 of 72) |
tail | 0.2% (1 of 511) |
tail somite group | 0.2% (1 of 511) |
trachea | 1.69% (1 of 59) |
urinary system | 1.69% (1 of 59) |
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 S100a14 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 | |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase | Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise | ORPHA:206599 |
Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.
Phenotype | Allele | Zygosity | Sex | Life Stage |
---|---|---|---|---|
Eye - MPATH pathological process term dysplasia | S100a14tm1b(EUCOMM)Hmgu | HET | Early adult |
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MGI Allele | Allele Type | Produced |
---|---|---|
S100a14tm1b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | Mice, Tissue |
S100a14tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
S100a14tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | Mice, ES Cells |
S100a14tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
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