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 |
---|---|---|---|---|---|---|
increased circulating amylase level | Gosr2tm1b(EUCOMM)Hmgu | HET | Early adult | 0.00 | ||
abnormal gait | Gosr2tm1b(EUCOMM)Hmgu | HET | Early adult | 6.26×10-14 | ||
increased circulating fructosamine level | Gosr2tm1b(EUCOMM)Hmgu | HET | Early adult | 5.46×10-06 | ||
preweaning lethality, complete penetrance | Gosr2tm1b(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 |
---|---|---|---|
Adrenal gland | Wholemount images | heterozygote | 100% (2 of 2) |
Aorta | Wholemount images | heterozygote | 100% (2 of 2) |
Brain | Wholemount images | heterozygote | 100% (2 of 2) |
Brainstem | Wholemount images | heterozygote | 100% (2 of 2) |
Cartilage tissue | Wholemount images | heterozygote | 100% (2 of 2) |
Cerebellum | Wholemount images | heterozygote | 100% (2 of 2) |
Cerebral cortex | Wholemount images | heterozygote | 100% (2 of 2) |
Gall bladder | Wholemount images | heterozygote | 100% (2 of 2) |
Heart | Wholemount images | heterozygote | 100% (2 of 2) |
Hippocampus | Wholemount images | heterozygote | 100% (2 of 2) |
Hypothalamus | Wholemount images | heterozygote | 100% (2 of 2) |
Kidney | Wholemount images | heterozygote | 100% (2 of 2) |
Large intestine | Wholemount images | heterozygote | Ambiguous |
Lower urinary tract | Wholemount images | heterozygote | 100% (2 of 2) |
Lung | Wholemount images | heterozygote | 50% (1 of 2) |
Lymph node | Wholemount images | heterozygote | 50% (1 of 2) |
Olfactory lobe | Wholemount images | heterozygote | 100% (2 of 2) |
Ovary | Wholemount images | heterozygote | 0.0% (0 of 2) |
Oviduct | Wholemount images | heterozygote | 50% (1 of 2) |
Pancreas | Wholemount images | heterozygote | 100% (2 of 2) |
Parathyroid gland | Wholemount images | heterozygote | 100% (2 of 2) |
Peripheral nervous system | Wholemount images | heterozygote | 100% (2 of 2) |
Pituitary gland | Wholemount images | heterozygote | 100% (2 of 2) |
Prostate gland | Wholemount images | heterozygote | 50% (1 of 2) |
Skin | Wholemount images | heterozygote | 100% (2 of 2) |
Spinal cord | Wholemount images | heterozygote | 100% (2 of 2) |
Striatum | Wholemount images | heterozygote | 100% (2 of 2) |
Testis | Wholemount images | heterozygote | 50% (1 of 2) |
Thyroid gland | Wholemount images | heterozygote | 100% (2 of 2) |
Trachea | Wholemount images | heterozygote | 100% (2 of 2) |
Uterus | Wholemount images | heterozygote | 50% (1 of 2) |
Vascular system | Wholemount images | heterozygote | 100% (2 of 2) |
Bone | N/A | heterozygote | 0.0% (0 of 2) |
Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Esophagus | N/A | heterozygote | 0.0% (0 of 2) |
Eye | N/A | heterozygote | 0.0% (0 of 2) |
Liver | N/A | heterozygote | 0.0% (0 of 2) |
Mammary gland | N/A | heterozygote | 0.0% (0 of 2) |
Oral epithelium | N/A | heterozygote | 0.0% (0 of 2) |
Peyer's patch | N/A | heterozygote | 0.0% (0 of 2) |
Skeletal muscle | N/A | heterozygote | 0.0% (0 of 2) |
Small intestine | N/A | heterozygote | 0.0% (0 of 2) |
Spleen | N/A | heterozygote | 0.0% (0 of 2) |
Stomach | N/A | heterozygote | 0.0% (0 of 2) |
Thymus | N/A | heterozygote | 0.0% (0 of 2) |
White adipose tissue | N/A | heterozygote | 0.0% (0 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 | 0.0% (0 of 2) |
Ear | N/A | heterozygote | 0.0% (0 of 2) |
Embryo | N/A | heterozygote | 0.0% (0 of 2) |
Eye | N/A | heterozygote | 0.0% (0 of 2) |
Footplate | N/A | heterozygote | 0.0% (0 of 2) |
Forebrain | N/A | heterozygote | 0.0% (0 of 2) |
Forelimb | N/A | heterozygote | 0.0% (0 of 2) |
Handplate | N/A | heterozygote | 0.0% (0 of 2) |
Head | N/A | heterozygote | 0.0% (0 of 2) |
Heart | N/A | heterozygote | 0.0% (0 of 2) |
Hindbrain | N/A | heterozygote | 0.0% (0 of 2) |
Hindlimb | N/A | heterozygote | 0.0% (0 of 2) |
Liver | N/A | heterozygote | 0.0% (0 of 2) |
Lung | N/A | heterozygote | 0.0% (0 of 2) |
Mandibular process | N/A | heterozygote | 0.0% (0 of 2) |
Maxillary process | N/A | heterozygote | 0.0% (0 of 2) |
Midbrain | N/A | heterozygote | 0.0% (0 of 2) |
Oral cavity | N/A | heterozygote | 0.0% (0 of 2) |
Skin | N/A | heterozygote | 0.0% (0 of 2) |
Tail somite | N/A | heterozygote | 0.0% (0 of 2) |
Tail | N/A | heterozygote | 0.0% (0 of 2) |
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) |
bone | 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) |
cerebellum | 0.5% (3 of 598) |
cerebral cortex | 0.33% (2 of 598) |
esophagus | 1.66% (7 of 422) |
eye | 0.0% |
gall bladder | 0.0% |
heart | 0.33% (2 of 598) |
hippocampus | 0.5% (3 of 598) |
hypothalamus | 0.33% (2 of 598) |
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% |
olfactory lobe | 0.33% (2 of 598) |
oral epithelium | 0.0% |
ovary | 0.17% (1 of 598) |
oviduct | 0.0% |
pancreas | 0.84% (5 of 598) |
parathyroid gland | 0.17% (1 of 576) |
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) |
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) |
striatum | 0.5% (3 of 598) |
testis | 1% (6 of 598) |
thymus | 0.17% (1 of 598) |
thyroid gland | 3.01% (18 of 598) |
trachea | 0.5% (3 of 598) |
uterus | 0.33% (2 of 598) |
vascular system | 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) |
---|---|
brain | 1.17% (6 of 511) |
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) |
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) |
oral cavity | 0.2% (1 of 506) |
skin | 0.2% (1 of 511) |
tail | 0.2% (1 of 511) |
tail somite group | 0.2% (1 of 511) |
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 associated to Gosr2 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Epilepsy, Progressive Myoclonic, 6 | Loss of ambulation, Difficulty walking, Ataxia, Elevated circulating creatine kinase concentration | OMIM:614018 |
The table below shows human diseases predicted to be associated to Gosr2 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Pentosuria | Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level | ORPHA:2843 | |
Epilepsy, Progressive Myoclonic, 6 | Loss of ambulation, Difficulty walking, Ataxia, Elevated circulating creatine kinase concentration | OMIM:614018 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Gosr2tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Gosr2tm1b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | Mice |
Gosr2tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
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