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.
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Adrenal gland | N/A | heterozygote | 100% (2 of 2) |
Aorta | N/A | heterozygote | 100% (2 of 2) |
Brain | N/A | heterozygote | 100% (2 of 2) |
Brainstem | N/A | heterozygote | 100% (2 of 2) |
Brown adipose tissue | N/A | heterozygote | 100% (2 of 2) |
Cartilage tissue | N/A | heterozygote | 100% (2 of 2) |
Cerebellum | N/A | heterozygote | 100% (2 of 2) |
Cerebral cortex | N/A | heterozygote | 100% (2 of 2) |
Epididymis | N/A | heterozygote | 50% (1 of 2) |
Esophagus | N/A | heterozygote | 0.0% (0 of 2) |
Eye | N/A | heterozygote | 100% (2 of 2) |
Heart | N/A | heterozygote | 100% (2 of 2) |
Hippocampus | N/A | heterozygote | 100% (2 of 2) |
Hypothalamus | N/A | heterozygote | 100% (2 of 2) |
Kidney | N/A | heterozygote | 100% (2 of 2) |
Large intestine | N/A | heterozygote | 100% (2 of 2) |
Liver | N/A | heterozygote | 0.0% (0 of 2) |
Lower urinary tract | N/A | heterozygote | Not available |
Lung | N/A | heterozygote | 100% (2 of 2) |
Lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Mammary gland | N/A | heterozygote | 0.0% (0 of 2) |
Midbrain | N/A | heterozygote | 100% (2 of 2) |
Olfactory lobe | N/A | heterozygote | 100% (2 of 2) |
Ovary | N/A | heterozygote | 50% (1 of 2) |
Oviduct | N/A | heterozygote | 50% (1 of 2) |
Pancreas | N/A | heterozygote | 100% (2 of 2) |
Peripheral nervous system | N/A | heterozygote | 100% (2 of 2) |
Peyer's patch | N/A | heterozygote | 0.0% (0 of 2) |
Pituitary gland | N/A | heterozygote | 100% (2 of 2) |
Prostate gland | N/A | heterozygote | Not available |
Skeletal muscle | N/A | heterozygote | 0.0% (0 of 2) |
Skin | N/A | heterozygote | 100% (2 of 2) |
Small intestine | N/A | heterozygote | 100% (2 of 2) |
Spinal cord | N/A | heterozygote | 100% (2 of 2) |
Spleen | N/A | heterozygote | 100% (2 of 2) |
Stomach | N/A | heterozygote | 100% (2 of 2) |
Striatum | N/A | heterozygote | 100% (2 of 2) |
Submandibular gland | N/A | heterozygote | 100% (2 of 2) |
Testis | N/A | heterozygote | 50% (1 of 2) |
Thalamus | N/A | heterozygote | 100% (2 of 2) |
Thymus | N/A | heterozygote | 0.0% (0 of 2) |
Thyroid gland | N/A | heterozygote | 100% (2 of 2) |
Trachea | N/A | heterozygote | 100% (2 of 2) |
Urinary bladder | N/A | heterozygote | 0.0% (0 of 2) |
Uterus | N/A | heterozygote | 50% (1 of 2) |
Vascular system | N/A | heterozygote | 100% (2 of 2) |
Vesicular gland | N/A | heterozygote | Not available |
White adipose tissue | N/A | heterozygote | 100% (2 of 2) |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Brain | N/A | heterozygote | 100% (2 of 2) |
Brain | N/A | homozygote | Ambiguous |
Dorsal root ganglion | N/A | heterozygote | 0.0% (0 of 2) |
Dorsal root ganglion | N/A | homozygote | Ambiguous |
Ear | N/A | heterozygote | 0.0% (0 of 2) |
Ear | N/A | homozygote | Ambiguous |
Embryo | N/A | heterozygote | 100% (2 of 2) |
Embryo | N/A | homozygote | Ambiguous |
Eye | N/A | heterozygote | 0.0% (0 of 2) |
Eye | N/A | homozygote | Ambiguous |
Footplate | N/A | heterozygote | 0.0% (0 of 2) |
Footplate | N/A | homozygote | Ambiguous |
Forebrain | N/A | heterozygote | 100% (2 of 2) |
Forebrain | N/A | homozygote | Ambiguous |
Forelimb | N/A | heterozygote | 0.0% (0 of 2) |
Forelimb | N/A | homozygote | Ambiguous |
Fronto-nasal process | N/A | heterozygote | 0.0% (0 of 2) |
Fronto-nasal process | N/A | homozygote | Ambiguous |
Handplate | N/A | heterozygote | 0.0% (0 of 2) |
Handplate | N/A | homozygote | Ambiguous |
Head | N/A | heterozygote | 100% (2 of 2) |
Head | N/A | homozygote | Ambiguous |
Heart | N/A | heterozygote | 100% (2 of 2) |
Heart | N/A | homozygote | Ambiguous |
Hindbrain | N/A | heterozygote | 0.0% (0 of 2) |
Hindbrain | N/A | homozygote | Ambiguous |
Hindlimb | N/A | heterozygote | 0.0% (0 of 2) |
Hindlimb | N/A | homozygote | Ambiguous |
Liver | N/A | heterozygote | 0.0% (0 of 2) |
Liver | N/A | homozygote | Ambiguous |
Lung | N/A | heterozygote | Ambiguous |
Lung | N/A | homozygote | Ambiguous |
Mandibular process | N/A | heterozygote | 0.0% (0 of 2) |
Mandibular process | N/A | homozygote | Ambiguous |
Maxillary process | N/A | heterozygote | 0.0% (0 of 2) |
Maxillary process | N/A | homozygote | Ambiguous |
Midbrain | N/A | heterozygote | 0.0% (0 of 2) |
Midbrain | N/A | homozygote | Ambiguous |
Nose | N/A | heterozygote | 0.0% (0 of 2) |
Nose | N/A | homozygote | Ambiguous |
Oral cavity | N/A | heterozygote | Ambiguous |
Oral cavity | N/A | homozygote | Ambiguous |
Skin | N/A | heterozygote | Ambiguous |
Skin | N/A | homozygote | Ambiguous |
Spinal cord | N/A | heterozygote | 0.0% (0 of 2) |
Spinal cord | N/A | homozygote | Ambiguous |
Tail somite | N/A | heterozygote | 0.0% (0 of 2) |
Tail somite | N/A | homozygote | Ambiguous |
Tail | N/A | heterozygote | 100% (2 of 2) |
Tail | N/A | homozygote | 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% |
brain | 0.0% |
brainstem | 0.0% |
brown adipose tissue | 0.0% |
cartilage tissue | 0.0% |
cerebellum | 0.0% |
cerebral cortex | 0.0% |
epididymis | Unavailable |
esophagus | 0.0% |
eye | 0.0% |
heart | 0.0% |
hippocampus | 0.0% |
hypothalamus | 0.0% |
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% |
midbrain | 0.0% |
olfactory lobe | 0.0% |
ovary | 0.0% |
oviduct | 0.0% |
pancreas | 0.0% |
peripheral nervous system | 0.0% |
peyers patch | 0.0% |
pituitary gland | 0.0% |
prostate gland | 0.0% |
skeletal muscle | 0.0% |
skin | 0.0% |
small intestine | 0.0% |
spinal cord | 0.0% |
spleen | 0.0% |
stomach | 0.0% |
striatum | 0.0% |
submandibular gland | 0.0% |
testis | 0.0% |
thalamus | 0.0% |
thymus | 0.0% |
thyroid gland | 0.0% |
trachea | 0.0% |
urinary bladder | |
uterus | 0.0% |
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) |
---|---|
brain | 0.0% |
dorsal root ganglion | Ambiguous |
ear | 0.0% |
embryo | 0.0% |
eye | 0.0% |
footplate | 0.0% |
forebrain | 0.0% |
forelimb | 0.0% |
fronto-nasal process | 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% |
skin | 0.0% |
spinal cord | Ambiguous |
tail | 0.0% |
tail somite group | 0.0% |
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 Sfxn5 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency | Hypoglycemia | ORPHA:35701 | |
Hyperinsulinemic Hypoglycemia, Familial, 7 | Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia | OMIM:610021 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Sfxn5tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Sfxn5tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Sfxn5tm1b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | Mice |
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