Gene: Coq2 MGI:1919133
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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 bone mineral content | Coq2tm1b(EUCOMM)Hmgu | HET | Early adult | 2.70×10-08 | ||
decreased lean body mass | Coq2tm1b(EUCOMM)Hmgu | HET | Early adult | 1.80×10-05 | ||
preweaning lethality, complete penetrance | Coq2tm1b(EUCOMM)Hmgu | HOM | Early adult | 0.00 | ||
embryonic lethality prior to tooth bud stage | Coq2tm1b(EUCOMM)Hmgu | HOM | E12.5 | 0.00 | ||
decreased heart weight | Coq2tm1b(EUCOMM)Hmgu | HET | Early adult | 2.12×10-05 | ||
increased total body fat amount | Coq2tm1b(EUCOMM)Hmgu | HET | Early adult | 2.10×10-07 |
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) |
Brown adipose tissue | Wholemount images | heterozygote | 50% (1 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) |
Esophagus | Wholemount images | heterozygote | 100% (2 of 2) |
Eye | 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 | 100% (2 of 2) |
Lower urinary tract | Wholemount images | heterozygote | 100% (2 of 2) |
Lung | Wholemount images | heterozygote | 100% (2 of 2) |
Lymph node | Wholemount images | heterozygote | 100% (2 of 2) |
Mammary gland | Wholemount images | heterozygote | 50% (1 of 2) |
Olfactory lobe | Wholemount images | heterozygote | 100% (2 of 2) |
Ovary | Wholemount images | heterozygote | 50% (1 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) |
Peyer's patch | Wholemount images | heterozygote | 50% (1 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) |
Small intestine | Wholemount images | heterozygote | 100% (2 of 2) |
Spinal cord | Wholemount images | heterozygote | 100% (2 of 2) |
Stomach | Wholemount images | heterozygote | 100% (2 of 2) |
Striatum | Wholemount images | heterozygote | 100% (2 of 2) |
Testis | Wholemount images | heterozygote | 50% (1 of 2) |
Thymus | Wholemount images | heterozygote | 100% (2 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) |
Liver | N/A | heterozygote | 0.0% (0 of 2) |
Oral epithelium | N/A | heterozygote | 0.0% (0 of 2) |
Skeletal muscle | N/A | heterozygote | 0.0% (0 of 2) |
Spleen | 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 | 100% (2 of 2) |
Ear | N/A | heterozygote | 50% (1 of 2) |
Embryo | N/A | heterozygote | 100% (2 of 2) |
Eye | N/A | heterozygote | 100% (2 of 2) |
Footplate | N/A | heterozygote | 100% (2 of 2) |
Forebrain | N/A | heterozygote | 100% (2 of 2) |
Forelimb | N/A | heterozygote | 100% (2 of 2) |
Handplate | N/A | heterozygote | 100% (2 of 2) |
Head | N/A | heterozygote | 100% (2 of 2) |
Heart | N/A | heterozygote | 50% (1 of 2) |
Hindbrain | N/A | heterozygote | 100% (2 of 2) |
Hindlimb | N/A | heterozygote | 100% (2 of 2) |
Liver | N/A | heterozygote | 50% (1 of 2) |
Lung | N/A | heterozygote | 50% (1 of 2) |
Mandibular process | N/A | heterozygote | 50% (1 of 2) |
Maxillary process | N/A | heterozygote | 50% (1 of 2) |
Midbrain | N/A | heterozygote | 100% (2 of 2) |
Oral cavity | N/A | heterozygote | 50% (1 of 2) |
Skin | N/A | heterozygote | 50% (1 of 2) |
Tail somite | N/A | heterozygote | 50% (1 of 2) |
Tail | N/A | heterozygote | 100% (2 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) |
Human diseases caused by Coq2 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 associated to Coq2 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Leigh Syndrome With Nephrotic Syndrome | Cardiomegaly | ORPHA:255249 | |
Coenzyme Q10 Deficiency, Primary, 1 | Hypertrophic cardiomyopathy | OMIM:607426 | |
Multiple System Atrophy, Cerebellar Type | ORPHA:227510 | ||
Multiple System Atrophy, Parkinsonian Type | ORPHA:98933 | ||
Multiple System Atrophy 1, Susceptibility To | OMIM:146500 |
The table below shows human diseases predicted to be associated to Coq2 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Leigh Syndrome With Nephrotic Syndrome | Cardiomegaly | ORPHA:255249 | |
Coenzyme Q10 Deficiency, Primary, 1 | Hypertrophic cardiomyopathy | OMIM:607426 | |
Multiple System Atrophy, Cerebellar Type | ORPHA:227510 | ||
Multiple System Atrophy, Parkinsonian Type | ORPHA:98933 | ||
Multiple System Atrophy 1, Susceptibility To | OMIM:146500 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Coq2tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Coq2tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Coq2tm1b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | Mice |
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