Gene: Snx27 MGI:1923992
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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 |
---|---|---|---|---|---|---|
decreased hemoglobin content | Snx27tm1b(KOMP)Wtsi | HET | Early adult | 2.24×10-05 | ||
preweaning lethality, incomplete penetrance | Snx27tm1b(KOMP)Wtsi | HOM | Early adult | 0.00 | ||
abnormal craniofacial morphology | Snx27tm1b(KOMP)Wtsi | HOM | E15.5 | 0.00 | ||
decreased erythrocyte cell number | Snx27tm1b(KOMP)Wtsi | HET | Early adult | 1.49×10-06 | ||
edema | Snx27tm1b(KOMP)Wtsi | HOM | E15.5 | 0.00 | ||
decreased hematocrit | Snx27tm1b(KOMP)Wtsi | HET | Early adult | 1.97×10-05 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Adrenal gland | Section images | heterozygote | 50% (2 of 4) |
Aorta | Wholemount images Section images | heterozygote | 75% (3 of 4) |
Brain | Wholemount images | heterozygote | 100% (4 of 4) |
Brown adipose tissue | Section images | heterozygote | 25% (1 of 4) |
Cerebellum | Wholemount images Section images | heterozygote | 100% (4 of 4) |
Chest bone | Wholemount images | heterozygote | 50% (2 of 4) |
Colon | Section images | heterozygote | 100% (4 of 4) |
Duodenum | Section images | heterozygote | 75% (3 of 4) |
Epididymis | Section images | heterozygote | 25% (1 of 4) |
Esophagus | Wholemount images Section images | heterozygote | 100% (4 of 4) |
Eye | Wholemount images Section images | heterozygote | 100% (4 of 4) |
Gall bladder | Wholemount images | heterozygote | 50% (2 of 4) |
Gonadal fat pad | Section images | heterozygote | 25% (1 of 4) |
Harderian gland | Wholemount images Section images | heterozygote | 100% (4 of 4) |
Ileum | Section images | heterozygote | 75% (3 of 4) |
Kidney | Wholemount images Section images | heterozygote | 100% (4 of 4) |
Lung | Wholemount images | heterozygote | 50% (2 of 4) |
Mesenteric adipose tissue | Wholemount images Section images | heterozygote | 75% (3 of 4) |
Midbrain | Wholemount images Section images | heterozygote | 100% (4 of 4) |
Olfactory lobe | Wholemount images Section images | heterozygote | 100% (4 of 4) |
Ovary | Wholemount images Section images | heterozygote | 50% (2 of 4) |
Oviduct | Wholemount images Section images | heterozygote | 50% (2 of 4) |
Pancreas | Wholemount images | heterozygote | 50% (2 of 4) |
Penis | Wholemount images Section images | heterozygote | 50% (2 of 4) |
Pituitary gland | Wholemount images | heterozygote | 50% (2 of 4) |
Prostate gland | Section images | heterozygote | 25% (1 of 4) |
Skin | Section images | heterozygote | 50% (2 of 4) |
Spinal cord | Wholemount images Section images | heterozygote | 100% (4 of 4) |
Stomach | Section images | heterozygote | 100% (4 of 4) |
Testis | Wholemount images Section images | heterozygote | 50% (2 of 4) |
Thymus | Wholemount images | heterozygote | 50% (2 of 4) |
Thyroid gland | Wholemount 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) |
Trigeminal V nerve | Section images | heterozygote | 25% (1 of 4) |
Urinary bladder | Wholemount images Section images | heterozygote | 100% (4 of 4) |
Uterus | Wholemount images Section images | heterozygote | 50% (2 of 4) |
Vagina | Wholemount images | heterozygote | 25% (1 of 4) |
Vas deferens | Section images | heterozygote | 50% (2 of 4) |
Vesicular gland | Wholemount images Section images | heterozygote | 50% (2 of 4) |
Blood | N/A | heterozygote | Not available |
Bone marrow | N/A | heterozygote | 0.0% (0 of 4) |
Brainstem | N/A | heterozygote | Not available |
Cartilage tissue | N/A | heterozygote | Not available |
Cecum | N/A | heterozygote | 50% (2 of 4) |
Cerebral cortex | N/A | heterozygote | Not available |
Diaphragm | 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 |
Jejunum | N/A | heterozygote | 50% (2 of 4) |
Large intestine | N/A | heterozygote | 100% (4 of 4) |
Liver | N/A | heterozygote | 0.0% (0 of 4) |
Lower urinary tract | N/A | heterozygote | Not available |
Lymph node | N/A | heterozygote | Not available |
Mammary gland | N/A | heterozygote | 0.0% (0 of 4) |
Mesenteric lymph node | 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 |
Quadriceps | 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 | 75% (3 of 4) |
Spleen | 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) |
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 | 100% (1 of 1) |
N/A | Ambiguous | ||
Brain | N/A | heterozygote | 100% (1 of 1) |
Brain | N/A | homozygote | Ambiguous |
Central nervous system ganglion | N/A | heterozygote | Ambiguous |
N/A | Ambiguous | ||
Ear | N/A | heterozygote | 100% (1 of 1) |
Ear | N/A | homozygote | Ambiguous |
Embryo | N/A | heterozygote | 100% (1 of 1) |
Embryo | N/A | homozygote | Ambiguous |
Eye | N/A | heterozygote | 100% (1 of 1) |
Eye | N/A | homozygote | Ambiguous |
Footplate | N/A | heterozygote | 0.0% (0 of 1) |
Footplate | N/A | homozygote | Ambiguous |
Forebrain | N/A | heterozygote | 100% (1 of 1) |
Forebrain | N/A | homozygote | Ambiguous |
Forelimb | N/A | heterozygote | 100% (1 of 1) |
Forelimb | N/A | homozygote | Ambiguous |
Gut | N/A | heterozygote | 100% (1 of 1) |
N/A | Ambiguous | ||
Handplate | N/A | heterozygote | 0.0% (0 of 1) |
Handplate | N/A | homozygote | Ambiguous |
Head | N/A | heterozygote | 100% (1 of 1) |
Head | N/A | homozygote | Ambiguous |
Heart | N/A | heterozygote | 100% (1 of 1) |
Heart | N/A | homozygote | Ambiguous |
Hindbrain | N/A | heterozygote | 100% (1 of 1) |
Hindbrain | N/A | homozygote | Ambiguous |
Hindlimb | N/A | heterozygote | 100% (1 of 1) |
Hindlimb | N/A | homozygote | Ambiguous |
Liver | N/A | heterozygote | 100% (1 of 1) |
Liver | N/A | homozygote | Ambiguous |
Lung | N/A | heterozygote | 100% (1 of 1) |
Lung | N/A | homozygote | Ambiguous |
Mandibular process | N/A | heterozygote | 100% (1 of 1) |
Mandibular process | N/A | homozygote | Ambiguous |
Maxillary process | N/A | heterozygote | 100% (1 of 1) |
Maxillary process | N/A | homozygote | Ambiguous |
Midbrain | N/A | heterozygote | 100% (1 of 1) |
Midbrain | N/A | homozygote | Ambiguous |
Nose | N/A | heterozygote | 100% (1 of 1) |
N/A | Ambiguous | ||
Oral cavity | N/A | heterozygote | 100% (1 of 1) |
Oral cavity | N/A | homozygote | Ambiguous |
Skeleton | N/A | heterozygote | 100% (1 of 1) |
N/A | Ambiguous | ||
Skin | N/A | heterozygote | 100% (1 of 1) |
Skin | N/A | homozygote | Ambiguous |
Spinal cord | N/A | heterozygote | 100% (1 of 1) |
N/A | Ambiguous | ||
Tail somite | N/A | heterozygote | 100% (1 of 1) |
Tail somite | N/A | homozygote | Ambiguous |
Tail | N/A | heterozygote | 0.0% (0 of 1) |
Tail | N/A | homozygote | Ambiguous |
Trachea | N/A | heterozygote | 100% (1 of 1) |
N/A | Ambiguous | ||
Urinary system | N/A | heterozygote | 100% (1 of 1) |
N/A | Ambiguous |
Background staining occurs in wild type mice and embryos at an incidental rate.
Anatomy | Background staining in controls (WT) |
---|---|
adrenal gland | 0.0% |
aorta | 0.0% |
blood | |
bone marrow | |
brain | 0.0% |
brainstem | 0.0% |
brown adipose tissue | 0.0% |
cartilage tissue | 0.0% |
cecum | 0.0% |
cerebellum | 0.0% |
cerebral cortex | 0.0% |
chest bone | |
colon | |
diaphragm | 0.0% |
duodenum | 0.0% |
epididymis | Unavailable |
esophagus | 0.0% |
eye | 0.0% |
gall bladder | 0.0% |
gonadal fat pad | 0.0% |
harderian gland | |
heart | 0.0% |
hindlimb | 0.0% |
hippocampus | 0.0% |
hypothalamus | 0.0% |
ileum | 0.0% |
jejunum | |
kidney | 0.0% |
large intestine | 0.0% |
liver | 0.0% |
lower urinary tract | 0.0% |
lung | 0.0% |
lymph node | 0.0% |
mammary gland | 0.0% |
mesenteric adipose tissue | 0.0% |
mesenteric lymph node | |
midbrain | 0.0% |
olfactory lobe | 0.0% |
ovary | 0.0% |
oviduct | 0.0% |
pancreas | 0.0% |
parathyroid gland | 0.0% |
parotid gland | 0.0% |
penis | 0.0% |
peripheral nervous system | 0.0% |
peyers patch | 0.0% |
pituitary gland | 0.0% |
prostate gland | 0.0% |
quadriceps | 0.0% |
sciatic nerve | 0.0% |
skeletal muscle | 0.0% |
skin | 0.0% |
small intestine | 0.0% |
spinal cord | 0.0% |
spleen | 0.0% |
stomach | 0.0% |
stomach pyloric region | 0.0% |
striatum | 0.0% |
sublingual gland | 0.0% |
submandibular gland | 0.0% |
testis | 0.0% |
thymus | 0.0% |
thyroid gland | 0.0% |
tongue | 0.0% |
trachea | 0.0% |
trigeminal v nerve | 0.0% |
urinary bladder | |
uterus | 0.0% |
vagina | 0.0% |
vas deferens | Unavailable |
vascular system | 0.0% |
vesicular gland | Unavailable |
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 | Ambiguous |
brain | 0.0% |
central nervous system ganglion | Ambiguous |
ear | 0.0% |
embryo | 0.0% |
eye | 0.0% |
footplate | 0.0% |
forebrain | 0.0% |
forelimb | 0.0% |
gut | Ambiguous |
handplate | 0.0% |
head | 0.0% |
heart | 0.0% |
hindbrain | 0.0% |
hindlimb | 0.0% |
liver | 0.0% |
lung | 0.0% |
mandibular process | 0.0% |
maxillary process | 0.0% |
midbrain | 0.0% |
nose | Ambiguous |
oral cavity | 0.0% |
skeleton | Ambiguous |
skin | 0.0% |
spinal cord | Ambiguous |
tail | 0.0% |
tail somite group | 0.0% |
trachea | Ambiguous |
urinary system | Ambiguous |
Human diseases caused by Snx27 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 Snx27 by phenotypic similarity.
IMPC related publications
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 Snx27.
There are 3 publications which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
An Epilepsy-Associated GRIN2A Rare Variant Disrupts CaMKIIα Phosphorylation of GluN2A and NMDA Receptor Trafficking. | Cell reports (September 2020) | Snx27tm1a(KOMP)Wtsi | 32877683 |
GIRK currents in VTA dopamine neurons control the sensitivity of mice to cocaine-induced locomotor sensitization. | Proceedings of the National Academy of Sciences of the United States of America (September 2018) | Snx27tm1a(KOMP)Wtsi | 30228121 |
Sorting nexin 27 regulation of G protein-gated inwardly rectifying K⁺ channels attenuates in vivo cocaine response. | Neuron (May 2014) | Snx27tm1a(KOMP)Wtsi | PMC4141045 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Snx27tm1b(KOMP)Wtsi | Reporter-tagged deletion allele (with selection cassette) | Mice, Tissue |
Snx27tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Snx27tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
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