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 |
---|---|---|---|
Brain | Wholemount images | heterozygote | 100% (2 of 2) |
Brainstem | Wholemount images | heterozygote | 100% (2 of 2) |
Cerebellum | Wholemount images | heterozygote | 100% (2 of 2) |
Cerebral cortex | Wholemount images | heterozygote | 100% (2 of 2) |
Hippocampus | Wholemount images | heterozygote | 100% (2 of 2) |
Hypothalamus | Wholemount images | heterozygote | 100% (2 of 2) |
Olfactory lobe | 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) |
Vas deferens | Wholemount images | heterozygote | Not available |
Adrenal gland | N/A | heterozygote | 0.0% (0 of 2) |
Aorta | N/A | heterozygote | 0.0% (0 of 2) |
Bone | N/A | heterozygote | 0.0% (0 of 2) |
Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Cartilage tissue | N/A | heterozygote | 0.0% (0 of 2) |
Cecum | N/A | heterozygote | 0.0% (0 of 2) |
Esophagus | N/A | heterozygote | 0.0% (0 of 2) |
Eye | N/A | heterozygote | Not available |
Gall bladder | N/A | heterozygote | 0.0% (0 of 2) |
Heart | N/A | heterozygote | 0.0% (0 of 2) |
Kidney | N/A | heterozygote | 0.0% (0 of 2) |
Large intestine | N/A | heterozygote | 0.0% (0 of 2) |
Liver | N/A | heterozygote | 0.0% (0 of 2) |
Lower urinary tract | N/A | heterozygote | 0.0% (0 of 2) |
Lung | N/A | heterozygote | 0.0% (0 of 2) |
Lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Mammary gland | N/A | heterozygote | 0.0% (0 of 2) |
Mesenteric lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Oral epithelium | N/A | heterozygote | 0.0% (0 of 2) |
Ovary | N/A | heterozygote | 0.0% (0 of 2) |
Oviduct | N/A | heterozygote | 0.0% (0 of 2) |
Pancreas | N/A | heterozygote | 0.0% (0 of 2) |
Parathyroid gland | N/A | heterozygote | 0.0% (0 of 2) |
Peripheral nervous system | N/A | heterozygote | 0.0% (0 of 2) |
Peyer's patch | N/A | heterozygote | 0.0% (0 of 2) |
Pituitary gland | 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) |
Skin | 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) |
Thyroid gland | N/A | heterozygote | 0.0% (0 of 2) |
Trachea | N/A | heterozygote | 0.0% (0 of 2) |
Trigeminal V nerve | N/A | heterozygote | 0.0% (0 of 2) |
Urinary bladder | N/A | heterozygote | 0.0% (0 of 2) |
Uterus | N/A | heterozygote | 0.0% (0 of 2) |
Vascular system | N/A | heterozygote | 0.0% (0 of 2) |
White adipose tissue | 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 | 0.0% |
aorta | 0.0% |
bone | 0.0% |
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% |
esophagus | 0.0% |
eye | 0.0% |
gall bladder | 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% |
mesenteric lymph node | |
olfactory lobe | 0.0% |
oral epithelium | 0.0% |
ovary | 0.0% |
oviduct | 0.0% |
pancreas | 0.0% |
parathyroid gland | 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% |
testis | 0.0% |
thymus | 0.0% |
thyroid gland | 0.0% |
trachea | 0.0% |
trigeminal v nerve | 0.0% |
urinary bladder | |
uterus | 0.0% |
vas deferens | Unavailable |
vascular system | 0.0% |
white adipose tissue | 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 Adamts4 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Pontocerebellar Hypoplasia, Type 4 | Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Gliosis, Cerebellar hypo... | OMIM:225753 | |
Huntington Disease | Cerebellar atrophy, Gliosis | OMIM:143100 | |
Diabetes Insipidus, Neurohypophyseal | Gliosis | OMIM:125700 | |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia | Amyotrophic lateral sclerosis, Gliosis | OMIM:300857 | |
L-2-Hydroxyglutaric Aciduria | Cerebellar atrophy, Gliosis | OMIM:236792 | |
Spinocerebellar Ataxia, Autosomal Recessive 2 | Dilated fourth ventricle, Gliosis, Cerebellar hypoplasia, Cerebellar vermis atrophy | OMIM:213200 | |
Developmental And Epileptic Encephalopathy 71 | Gliosis | OMIM:618328 | |
Immunodeficiency 83, Susceptibility To Viral Infections | Gliosis | OMIM:613002 | |
Microcephaly 10, Primary, Autosomal Recessive | Cerebellar atrophy, Cerebellar hemisphere hypoplasia, Gliosis | OMIM:615095 | |
Congenital Neuronal Ceroid Lipofuscinosis | Cerebellar atrophy, Gliosis, Cerebellar hypoplasia, Abnormal astrocyte morphology | ORPHA:168486 | |
Developmental And Epileptic Encephalopathy 14 | Gliosis | OMIM:614959 | |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 | Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Gliosis | OMIM:105550 | |
Spinocerebellar Ataxia, Autosomal Recessive 27 | Cerebellar atrophy, Gliosis | OMIM:618369 | |
Hemimegalencephaly | Gliosis, Abnormal neuron morphology | ORPHA:99802 | |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type | Degeneration of anterior horn cells, Gliosis | OMIM:604484 | |
Pick Disease Of Brain | Gliosis | OMIM:172700 | |
Melorheostosis, Isolated | Hyperostosis, Increased bone mineral density | OMIM:155950 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 | Gliosis | OMIM:615119 | |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies | Gliosis | OMIM:604218 | |
Primary Non-Essential Cutis Verticis Gyrata | Gliosis | ORPHA:357225 | |
Adducted Thumbs Syndrome | Myelin-dependent gliosis | OMIM:201550 | |
Spinocerebellar Ataxia 17 | Cerebellar atrophy, Gliosis | OMIM:607136 | |
Frontotemporal Dementia With Motor Neuron Disease | Abnormal lower motor neuron morphology, Gliosis, Abnormal upper motor neuron morphology | ORPHA:275872 | |
Intellectual Developmental Disorder, X-Linked 12 | Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Gliosis | OMIM:300957 | |
Spastic Paraplegia 50, Autosomal Recessive | Cerebellar atrophy, Gliosis | OMIM:612936 | |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 | Gliosis | OMIM:221820 | |
Pyruvate Dehydrogenase E1-Alpha Deficiency | Cerebellar gliosis, Gliosis, Basal ganglia gliosis, Cerebellar cyst | ORPHA:79243 | |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 | Abnormal upper motor neuron morphology, Gliosis | OMIM:221770 | |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome | Gliosis, Cerebellar dysplasia | ORPHA:457240 | |
Sporadic Creutzfeldt-Jakob Disease | Gliosis, Astrocytosis | ORPHA:204 | |
Leukoencephalopathy With Vanishing White Matter 1 | Gliosis | OMIM:603896 | |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 | Gliosis | OMIM:608033 | |
Neurodegeneration With Brain Iron Accumulation 2A | Cerebellar atrophy, Gliosis | OMIM:256600 | |
Cerebrooculofacioskeletal Syndrome 1 | Cerebellar atrophy, Gliosis, Cerebellar hypoplasia | OMIM:214150 | |
Pontocerebellar Hypoplasia, Type 2A | Hypoplasia of the pons, Gliosis, Cerebellar hypoplasia | OMIM:277470 | |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant | Abnormal cerebellum morphology, Gliosis | OMIM:169500 | |
Huntington Disease-Like 1 | Cerebellar atrophy, Gliosis | ORPHA:157941 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 | Cerebellar atrophy, Basal ganglia gliosis, Gliosis | OMIM:604377 | |
Spongiform Encephalopathy With Neuropsychiatric Features | Gliosis | OMIM:606688 | |
Combined Oxidative Phosphorylation Deficiency 24 | Cerebellar atrophy, Gliosis | OMIM:616239 | |
Lissencephaly, X-Linked, 2 | Gliosis | OMIM:300215 | |
Combined Oxidative Phosphorylation Deficiency 14 | Cerebellar atrophy, Basal ganglia gliosis, Gliosis | OMIM:614946 | |
Leigh Syndrome | Gliosis | OMIM:256000 | |
Machado-Joseph Disease | Cerebellar atrophy, Dilated fourth ventricle, Gliosis | OMIM:109150 | |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal | Gliosis | OMIM:614498 | |
Pelizaeus-Merzbacher Disease, Connatal Form | Gliosis, Cerebellar hypoplasia | ORPHA:280210 | |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome | Gliosis, Cerebellar hypoplasia | ORPHA:3240 | |
Kleefstra Syndrome Due To A Point Mutation | Gliosis, Cerebellar hypoplasia | ORPHA:261652 | |
Familial Acute Necrotizing Encephalopathy | Gliosis | ORPHA:88619 | |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum | Cerebellar atrophy, Gliosis | OMIM:617193 | |
Mannosidosis, Alpha B, Lysosomal | Cerebellar atrophy, Gliosis | OMIM:248500 | |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly | Gliosis | OMIM:619847 | |
Progressive Supranuclear Palsy | Gliosis | ORPHA:683 | |
Leigh Syndrome | Cerebellar atrophy, Olivopontocerebellar atrophy, Gliosis, Abnormal dentate nucleus morphology | ORPHA:506 | |
Multiple Acyl-Coa Dehydrogenase Deficiency | Gliosis | ORPHA:26791 | |
Multiple Acyl-Coa Dehydrogenase Deficiency | Gliosis | OMIM:231680 | |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related | Gliosis | OMIM:607485 | |
Papillorenal Syndrome | Chiari type I malformation, Gliosis | OMIM:120330 | |
Parkinson Disease 1, Autosomal Dominant | Gliosis | OMIM:168601 | |
Tay-Sachs Disease | Cerebellar atrophy, Gliosis | ORPHA:845 | |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 | Gliosis | OMIM:618321 | |
D-Bifunctional Protein Deficiency | Cerebellar atrophy, Gliosis | OMIM:261515 | |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis | Cerebellar atrophy, Gliosis | OMIM:301072 | |
Mitochondrial Complex I Deficiency, Nuclear Type 2 | Gliosis | OMIM:618222 | |
Cerebrotendinous Xanthomatosis | Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Abnormal cerebellum morphology, Glio... | ORPHA:909 | |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) | Cerebellar atrophy, Gliosis, Astrocytosis | OMIM:203700 | |
Molybdenum Cofactor Deficiency, Complementation Group B | Gliosis | OMIM:252160 | |
Hereditary Late-Onset Parkinson Disease | Gliosis | ORPHA:411602 | |
Molybdenum Cofactor Deficiency, Complementation Group A | Gliosis | OMIM:252150 | |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 | Abnormal pons morphology, Gliosis, Cerebellar hypoplasia | OMIM:300868 | |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome | Cerebellar atrophy, Gliosis | ORPHA:404454 | |
Supranuclear Palsy, Progressive, 1 | Gliosis, Astrocytosis | OMIM:601104 | |
Cockayne Syndrome | Cerebellar atrophy, Gliosis, Dense calcifications in the cerebellar dentate nucleus | ORPHA:191 | |
Congenital Disorder Of Deglycosylation 1 | Gliosis | OMIM:615273 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 | Cerebellar atrophy, Gliosis | OMIM:124000 | |
Helsmoortel-Van Der Aa Syndrome | Gliosis | OMIM:615873 | |
Supranuclear Palsy, Progressive, 2 | Gliosis | OMIM:609454 | |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion | Gliosis | ORPHA:268261 | |
Cutis Laxa, Autosomal Recessive, Type Iid | Gliosis | OMIM:617403 | |
Diets-Jongmans Syndrome | Gliosis | OMIM:618846 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 | Cerebellar vermis hypoplasia, Gliosis | OMIM:220111 | |
Gabriele-De Vries Syndrome | Gliosis | ORPHA:506358 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Adamts4tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Adamts4tm1b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | Mice |
Adamts4tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
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