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 | Section images | heterozygote | 100% (2 of 2) |
Aorta | Section images | heterozygote | 100% (2 of 2) |
Brainstem | Section images | heterozygote | 100% (2 of 2) |
Brown adipose tissue | Section images | heterozygote | 100% (2 of 2) |
Cartilage tissue | Section images | heterozygote | 100% (2 of 2) |
Cerebellum | Section images | heterozygote | 100% (2 of 2) |
Cerebral cortex | Section images | heterozygote | 100% (2 of 2) |
Epididymis | Section images | heterozygote | 50% (1 of 2) |
Esophagus | Section images | heterozygote | 100% (2 of 2) |
Eye | Section images | heterozygote | 100% (2 of 2) |
Heart | Section images | heterozygote | 100% (2 of 2) |
Hippocampus | Section images | heterozygote | 100% (2 of 2) |
Hypothalamus | Section images | heterozygote | 100% (2 of 2) |
Kidney | Section images | heterozygote | 100% (2 of 2) |
Large intestine | Section images | heterozygote | 100% (2 of 2) |
Liver | Section images | heterozygote | 100% (2 of 2) |
Lung | Section images | heterozygote | 100% (2 of 2) |
Mammary gland | Section images | heterozygote | 50% (1 of 2) |
Midbrain | Section images | heterozygote | 100% (2 of 2) |
Olfactory lobe | Section images | heterozygote | 100% (2 of 2) |
Ovary | Section images | heterozygote | 50% (1 of 2) |
Oviduct | Section images | heterozygote | 50% (1 of 2) |
Pancreas | Section images | heterozygote | 100% (2 of 2) |
Peripheral nervous system | Section images | heterozygote | 100% (2 of 2) |
Pituitary gland | Section images | heterozygote | 100% (2 of 2) |
Skin | Section images | heterozygote | 100% (2 of 2) |
Small intestine | Section images | heterozygote | 100% (2 of 2) |
Spinal cord | Section images | heterozygote | 100% (2 of 2) |
Spleen | Section images | heterozygote | 100% (2 of 2) |
Stomach | Section images | heterozygote | 100% (2 of 2) |
Striatum | Section images | heterozygote | 100% (2 of 2) |
Submandibular gland | Section images | heterozygote | 100% (2 of 2) |
Testis | Section images | heterozygote | 50% (1 of 2) |
Thalamus | Section images | heterozygote | 100% (2 of 2) |
Thyroid gland | Section images | heterozygote | 100% (2 of 2) |
Trachea | Section images | heterozygote | 100% (2 of 2) |
Urinary bladder | Section images | heterozygote | 100% (2 of 2) |
Uterus | Section images | heterozygote | 50% (1 of 2) |
Vascular system | Section images | heterozygote | 100% (2 of 2) |
White adipose tissue | Section images | heterozygote | 100% (2 of 2) |
Brain | N/A | heterozygote | 0.0% (0 of 2) |
Lower urinary tract | N/A | heterozygote | Not available |
Lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Peyer's patch | N/A | heterozygote | 0.0% (0 of 2) |
Prostate gland | N/A | heterozygote | Not available |
Skeletal muscle | N/A | heterozygote | 0.0% (0 of 2) |
Thymus | N/A | heterozygote | 0.0% (0 of 2) |
Vesicular gland | 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 |
---|---|---|---|
Embryo | N/A | heterozygote | 100% (2 of 2) |
Embryo | N/A | homozygote | Ambiguous |
Brain | N/A | heterozygote | 100% (2 of 2) |
Brain | N/A | homozygote | Ambiguous |
Dorsal root ganglion | N/A | heterozygote | Ambiguous |
Dorsal root ganglion | N/A | homozygote | Ambiguous |
Ear | N/A | heterozygote | 100% (2 of 2) |
Ear | N/A | homozygote | Ambiguous |
Eye | N/A | heterozygote | 100% (2 of 2) |
Eye | N/A | homozygote | Ambiguous |
Footplate | N/A | heterozygote | 100% (2 of 2) |
Footplate | N/A | homozygote | Ambiguous |
Forebrain | N/A | heterozygote | 100% (2 of 2) |
Forebrain | N/A | homozygote | Ambiguous |
Forelimb | N/A | heterozygote | 100% (2 of 2) |
Forelimb | N/A | homozygote | Ambiguous |
Fronto-nasal process | N/A | heterozygote | Ambiguous |
Fronto-nasal process | N/A | homozygote | Ambiguous |
Handplate | N/A | heterozygote | 100% (2 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 | 100% (2 of 2) |
Hindbrain | N/A | homozygote | Ambiguous |
Hindlimb | N/A | heterozygote | 100% (2 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 | 100% (2 of 2) |
Mandibular process | N/A | homozygote | Ambiguous |
Maxillary process | N/A | heterozygote | 100% (2 of 2) |
Maxillary process | N/A | homozygote | Ambiguous |
Midbrain | N/A | heterozygote | 100% (2 of 2) |
Midbrain | N/A | homozygote | Ambiguous |
Nose | N/A | heterozygote | 100% (2 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 | 100% (2 of 2) |
Spinal cord | N/A | homozygote | Ambiguous |
Tail somite | N/A | heterozygote | 100% (2 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 Tnks2 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Intellectual Developmental Disorder, Autosomal Recessive 54 | Exaggerated startle response | OMIM:617028 | |
Hyperekplexia-Epilepsy Syndrome | Exaggerated startle response | ORPHA:163985 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... | OMIM:608643 | |
Developmental And Epileptic Encephalopathy 68 | Exaggerated startle response | OMIM:618201 | |
Developmental And Epileptic Encephalopathy 8 | Exaggerated startle response | OMIM:300607 | |
Hyperekplexia 2 | Exaggerated startle response | OMIM:614619 | |
Hyperekplexia 3 | Exaggerated startle response | OMIM:614618 | |
Stiff Person Spectrum Disorder | Exaggerated startle response | ORPHA:3198 | |
Gm2 Gangliosidosis, Ab Variant | Exaggerated startle response, Dystonia | ORPHA:309246 | |
Stiff-Person Syndrome | Exaggerated startle response, Opisthotonus | OMIM:184850 | |
Hyperekplexia 1 | Exaggerated startle response | OMIM:149400 | |
Spastic Paraplegia, Optic Atrophy, And Neuropathy | Exaggerated startle response | OMIM:609541 | |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures | Tremor, Exaggerated startle response, Truncal titubation | OMIM:618056 | |
Spastic Tetraplegia And Axial Hypotonia, Progressive | Exaggerated startle response | OMIM:618598 | |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome | Exaggerated startle response | ORPHA:320406 | |
Tay-Sachs Disease | Exaggerated startle response | OMIM:272800 | |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures | Exaggerated startle response | OMIM:620114 | |
Gm2-Gangliosidosis, Ab Variant | Exaggerated startle response, Dystonia | OMIM:272750 | |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities | Tremor, Exaggerated startle response | OMIM:620327 | |
Leukodystrophy, Hypomyelinating, 13 | Exaggerated startle response | OMIM:616881 | |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome | Exaggerated startle response | OMIM:608800 | |
Sandhoff Disease, Infantile Form | Exaggerated startle response | ORPHA:309155 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation | Exaggerated startle response, Dystonia | ORPHA:438216 | |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities | Exaggerated startle response | OMIM:617864 | |
Tay-Sachs Disease | Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia | ORPHA:845 | |
Glycine Encephalopathy With Normal Serum Glycine | Exaggerated startle response | OMIM:617301 | |
Sandhoff Disease | Exaggerated startle response | OMIM:268800 | |
Developmental And Epileptic Encephalopathy 49 | Exaggerated startle response | OMIM:617281 | |
Plaa-Associated Neurodevelopmental Disorder | Exaggerated startle response, Dystonia | ORPHA:521426 | |
Gm1 Gangliosidosis Type 1 | Exaggerated startle response, Dystonia | ORPHA:79255 | |
Asparagine Synthetase Deficiency | Tremor, Exaggerated startle response | OMIM:615574 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 | Exaggerated startle response | OMIM:253800 | |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies | Exaggerated startle response | OMIM:617527 | |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination | Exaggerated startle response | OMIM:618367 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome | Exaggerated startle response, Dystonia | ORPHA:438213 | |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities | Exaggerated startle response | OMIM:619522 |
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 Tnks2.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Tankyrase represses autoinflammation through the attenuation of TLR2 signaling. | The Journal of clinical investigation (April 2022) | Tnks2tm1a(KOMP)Wtsi | PMC8970677 |
All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.
MGI Allele | Allele Type | Produced |
---|---|---|
Tnks2tm1b(KOMP)Wtsi | Reporter-tagged deletion allele (with selection cassette) | Mice |
Tnks2tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Tnks2tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
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