Gene: S100a6 MGI:1339467
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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 | S100a6tm1b(KOMP)Wtsi | HOM | Early adult | 0.00 | ||
increased vertical activity | S100a6tm1b(KOMP)Wtsi | HET | Early adult | 6.51×10-05 | ||
preweaning lethality, complete penetrance | S100a6tm1b(KOMP)Wtsi | 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 |
---|---|---|---|
Brain | Wholemount images | heterozygote | 75% (3 of 4) |
Cecum | Wholemount images Section images | heterozygote | 75% (3 of 4) |
Chest bone | Wholemount images | heterozygote | 50% (2 of 4) |
Colon | Wholemount images Section images | heterozygote | 100% (4 of 4) |
Duodenum | Wholemount images Section images | heterozygote | 75% (3 of 4) |
Epididymis | Section images | heterozygote | 50% (2 of 4) |
Esophagus | Section images | heterozygote | 25% (1 of 4) |
Eye | Section images | heterozygote | 75% (3 of 4) |
Ileum | Wholemount images Section images | heterozygote | 100% (4 of 4) |
Jejunum | Wholemount images | heterozygote | 50% (2 of 4) |
Kidney | Wholemount images Section images | heterozygote | 100% (4 of 4) |
Liver | Section images | heterozygote | 25% (1 of 4) |
Midbrain | Wholemount images Section images | heterozygote | 75% (3 of 4) |
Olfactory lobe | Wholemount images Section images | heterozygote | 75% (3 of 4) |
Ovary | Wholemount images Section images | heterozygote | 50% (2 of 4) |
Oviduct | Wholemount images Section images | heterozygote | 50% (2 of 4) |
Penis | Wholemount images Section images | heterozygote | 50% (2 of 4) |
Prostate gland | Section images | heterozygote | 25% (1 of 4) |
Quadriceps | Section images | heterozygote | 25% (1 of 4) |
Skin | Wholemount images Section images | heterozygote | 100% (4 of 4) |
Spleen | Section images | heterozygote | 25% (1 of 4) |
Stomach | Wholemount images Section images | heterozygote | 75% (3 of 4) |
Testis | Section images | heterozygote | 50% (2 of 4) |
Thymus | Section images | heterozygote | 50% (2 of 4) |
Tongue | Wholemount images Section images | heterozygote | 100% (4 of 4) |
Trachea | Wholemount images Section images | heterozygote | 75% (3 of 4) |
Urinary bladder | Wholemount images Section images | heterozygote | 100% (4 of 4) |
Vas deferens | Section images | heterozygote | 50% (2 of 4) |
Vesicular gland | Wholemount images Section images | heterozygote | 50% (2 of 4) |
Adrenal gland | N/A | heterozygote | 0.0% (0 of 4) |
Aorta | N/A | heterozygote | 0.0% (0 of 4) |
Blood | N/A | heterozygote | 0.0% (0 of 4) |
Bone marrow | N/A | heterozygote | 0.0% (0 of 4) |
Brainstem | N/A | heterozygote | Not available |
Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 4) |
Cartilage tissue | N/A | heterozygote | Not available |
Cerebellum | N/A | heterozygote | 0.0% (0 of 4) |
Cerebral cortex | N/A | heterozygote | Not available |
Diaphragm | N/A | heterozygote | 0.0% (0 of 4) |
Gall bladder | N/A | heterozygote | Not available |
Gonadal fat pad | N/A | heterozygote | 0.0% (0 of 4) |
Harderian gland | N/A | heterozygote | 0.0% (0 of 4) |
Heart | N/A | heterozygote | Not available |
Hindlimb | N/A | heterozygote | Not available |
Hippocampus | N/A | heterozygote | Not available |
Hypothalamus | N/A | heterozygote | Not available |
Large intestine | N/A | heterozygote | 100% (4 of 4) |
Lower urinary tract | N/A | heterozygote | Not available |
Lung | N/A | heterozygote | 0.0% (0 of 4) |
Lymph node | N/A | heterozygote | Not available |
Mammary gland | N/A | heterozygote | 0.0% (0 of 4) |
Mesenteric adipose tissue | N/A | heterozygote | 0.0% (0 of 4) |
Mesenteric lymph node | N/A | heterozygote | 0.0% (0 of 4) |
Pancreas | N/A | heterozygote | 0.0% (0 of 4) |
Parathyroid gland | N/A | heterozygote | 0.0% (0 of 4) |
Parotid gland | N/A | heterozygote | 0.0% (0 of 4) |
Peripheral nervous system | N/A | heterozygote | Not available |
Peyer's patch | N/A | heterozygote | Not available |
Pituitary gland | N/A | heterozygote | 0.0% (0 of 4) |
Sciatic nerve | N/A | heterozygote | 0.0% (0 of 4) |
Skeletal muscle | N/A | heterozygote | Not available |
Small intestine | N/A | heterozygote | 100% (4 of 4) |
Spinal cord | N/A | heterozygote | 0.0% (0 of 4) |
Stomach pyloric region | N/A | heterozygote | Not available |
Striatum | N/A | heterozygote | Not available |
Sublingual gland | N/A | heterozygote | 0.0% (0 of 4) |
Submandibular gland | N/A | heterozygote | 0.0% (0 of 4) |
Thyroid gland | N/A | heterozygote | 0.0% (0 of 4) |
Trigeminal V nerve | N/A | heterozygote | 0.0% (0 of 4) |
Uterus | N/A | heterozygote | 0.0% (0 of 4) |
Vagina | N/A | heterozygote | 0.0% (0 of 4) |
Vascular system | N/A | heterozygote | Not available |
White adipose tissue | N/A | heterozygote | Not available |
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 1) |
Axial skeleton | N/A | homozygote | 0.0% (0 of 1) |
Brain | N/A | heterozygote | 16.67% (1 of 6) |
Brain | N/A | homozygote | 33.33% (1 of 3) |
Central nervous system ganglion | N/A | heterozygote | 0.0% (0 of 1) |
Central nervous system ganglion | N/A | homozygote | 0.0% (0 of 1) |
Ear | N/A | heterozygote | 0.0% (0 of 6) |
Ear | N/A | homozygote | 0.0% (0 of 3) |
Embryo | N/A | heterozygote | 16.67% (1 of 6) |
Embryo | N/A | homozygote | 33.33% (1 of 3) |
Eye | N/A | heterozygote | 0.0% (0 of 6) |
Eye | N/A | homozygote | 0.0% (0 of 3) |
Footplate | N/A | heterozygote | 0.0% (0 of 6) |
Footplate | N/A | homozygote | 0.0% (0 of 3) |
Forebrain | N/A | heterozygote | 0.0% (0 of 6) |
Forebrain | N/A | homozygote | 33.33% (1 of 3) |
Forelimb | N/A | heterozygote | 0.0% (0 of 6) |
Forelimb | N/A | homozygote | 0.0% (0 of 3) |
Gut | N/A | heterozygote | 0.0% (0 of 1) |
Gut | N/A | homozygote | 0.0% (0 of 1) |
Handplate | N/A | heterozygote | 0.0% (0 of 6) |
Handplate | N/A | homozygote | 0.0% (0 of 3) |
Head | N/A | heterozygote | 0.0% (0 of 6) |
Head | N/A | homozygote | 0.0% (0 of 3) |
Heart | N/A | heterozygote | 0.0% (0 of 6) |
Heart | N/A | homozygote | 0.0% (0 of 3) |
Hindbrain | N/A | heterozygote | 0.0% (0 of 6) |
Hindbrain | N/A | homozygote | 0.0% (0 of 3) |
Hindlimb | N/A | heterozygote | 0.0% (0 of 6) |
Hindlimb | N/A | homozygote | 0.0% (0 of 3) |
Liver | N/A | heterozygote | 0.0% (0 of 6) |
Liver | N/A | homozygote | 0.0% (0 of 3) |
Lung | N/A | heterozygote | 0.0% (0 of 6) |
Lung | N/A | homozygote | 0.0% (0 of 3) |
Mandibular process | N/A | heterozygote | 0.0% (0 of 6) |
Mandibular process | N/A | homozygote | 0.0% (0 of 3) |
Maxillary process | N/A | heterozygote | 0.0% (0 of 6) |
Maxillary process | N/A | homozygote | 0.0% (0 of 3) |
Midbrain | N/A | heterozygote | 0.0% (0 of 6) |
Midbrain | N/A | homozygote | 0.0% (0 of 3) |
Nose | N/A | heterozygote | 100% (1 of 1) |
Nose | N/A | homozygote | 100% (1 of 1) |
Oral cavity | N/A | heterozygote | 0.0% (0 of 6) |
Oral cavity | N/A | homozygote | 0.0% (0 of 3) |
Skeleton | N/A | heterozygote | 0.0% (0 of 1) |
Skeleton | N/A | homozygote | 0.0% (0 of 1) |
Skin | N/A | heterozygote | 16.67% (1 of 6) |
Skin | N/A | homozygote | 33.33% (1 of 3) |
Spinal cord | N/A | heterozygote | 0.0% (0 of 1) |
Spinal cord | N/A | homozygote | 0.0% (0 of 1) |
Tail somite | N/A | heterozygote | 0.0% (0 of 6) |
Tail somite | N/A | homozygote | 0.0% (0 of 3) |
Tail | N/A | heterozygote | 0.0% (0 of 6) |
Tail | N/A | homozygote | 0.0% (0 of 3) |
Trachea | N/A | heterozygote | 0.0% (0 of 1) |
Trachea | N/A | homozygote | 0.0% (0 of 1) |
Urinary system | N/A | heterozygote | 0.0% (0 of 1) |
Urinary system | N/A | homozygote | 0.0% (0 of 1) |
Background staining occurs in wild type mice and embryos at an incidental rate.
Anatomy | Background staining in controls (WT) |
---|---|
adrenal gland | 0.67% (4 of 598) |
aorta | 0.17% (1 of 598) |
blood | 0.0% |
bone marrow | 0.0% |
brain | 0.84% (5 of 598) |
brainstem | 0.33% (2 of 598) |
brown adipose tissue | 0.0% |
cartilage tissue | 0.17% (1 of 598) |
cecum | 5.73% (22 of 384) |
cerebellum | 0.5% (3 of 598) |
cerebral cortex | 0.33% (2 of 598) |
chest bone | Unavailable |
colon | 15.71% (22 of 140) |
diaphragm | 0.0% |
duodenum | 3.57% (5 of 140) |
epididymis | 14.29% (21 of 147) |
esophagus | 1.66% (7 of 422) |
eye | 0.0% |
gall bladder | 0.0% |
gonadal fat pad | 0.0% |
harderian gland | 0.71% (1 of 140) |
heart | 0.33% (2 of 598) |
hindlimb | 0.0% |
hippocampus | 0.5% (3 of 598) |
hypothalamus | 0.33% (2 of 598) |
ileum | 14.29% (20 of 140) |
jejunum | 8.57% (12 of 140) |
kidney | 4.52% (27 of 598) |
large intestine | 5.35% (32 of 598) |
liver | 0.0% |
lower urinary tract | 0.17% (1 of 598) |
lung | 0.33% (2 of 598) |
lymph node | 0.17% (1 of 598) |
mammary gland | 0.0% |
mesenteric adipose tissue | 0.0% |
mesenteric lymph node | 0.31% (1 of 323) |
midbrain | 0.0% |
olfactory lobe | 0.33% (2 of 598) |
ovary | 0.17% (1 of 598) |
oviduct | 0.0% |
pancreas | 0.84% (5 of 598) |
parathyroid gland | 0.17% (1 of 576) |
parotid gland | 0.0% |
penis | 0.0% |
peripheral nervous system | 0.33% (2 of 598) |
peyers patch | 0.0% |
pituitary gland | 0.17% (1 of 598) |
prostate gland | 2.17% (13 of 598) |
quadriceps | 0.0% |
sciatic nerve | 0.0% |
skeletal muscle | 0.0% |
skin | 0.17% (1 of 598) |
small intestine | 5.35% (32 of 598) |
spinal cord | 0.5% (3 of 598) |
spleen | 0.5% (3 of 598) |
stomach | 3.68% (22 of 598) |
stomach pyloric region | 0.0% |
striatum | 0.5% (3 of 598) |
sublingual gland | 0.0% |
submandibular gland | 1.38% (2 of 145) |
testis | 1% (6 of 598) |
thymus | 0.17% (1 of 598) |
thyroid gland | 3.01% (18 of 598) |
tongue | 3.57% (5 of 140) |
trachea | 0.5% (3 of 598) |
trigeminal v nerve | 0.0% |
urinary bladder | 0.0% |
uterus | 0.33% (2 of 598) |
vagina | 0.0% |
vas deferens | 4.56% (18 of 395) |
vascular system | 0.0% |
vesicular gland | 0.0% |
white adipose tissue | 0.0% |
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) |
Human diseases caused by S100a6 mutations
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 S100a6 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Attention Deficit-Hyperactivity Disorder 8 | Attention deficit hyperactivity disorder | OMIM:619957 | |
Attention Deficit-Hyperactivity Disorder | Attention deficit hyperactivity disorder, Hyperactivity | OMIM:143465 | |
Schizophrenia 15 | Hyperactivity | OMIM:613950 | |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) | Hyperactivity | DECIPHER:20 | |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) | Hyperactivity | DECIPHER:19 | |
Intellectual Developmental Disorder, X-Linked 77 | Hyperactivity | OMIM:300454 |
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MGI Allele | Allele Type | Produced |
---|---|---|
S100a6tm1b(KOMP)Wtsi | Reporter-tagged deletion allele (with selection cassette) | Mice, Tissue |
S100a6tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
S100a6tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
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