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 | 0.0% (0 of 2) |
Aorta | N/A | heterozygote | 0.0% (0 of 2) |
Bone | N/A | heterozygote | 0.0% (0 of 2) |
Brain | N/A | heterozygote | 100% (2 of 2) |
Brainstem | N/A | heterozygote | 100% (2 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) |
Cerebellum | N/A | heterozygote | 100% (2 of 2) |
Cerebral cortex | N/A | heterozygote | 100% (2 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) |
Hippocampus | N/A | heterozygote | 100% (2 of 2) |
Hypothalamus | N/A | heterozygote | 100% (2 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) |
Olfactory lobe | N/A | heterozygote | 100% (2 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) |
Spinal cord | N/A | heterozygote | 100% (2 of 2) |
Spleen | N/A | heterozygote | 0.0% (0 of 2) |
Stomach | N/A | heterozygote | 0.0% (0 of 2) |
Striatum | N/A | heterozygote | 100% (2 of 2) |
Testis | N/A | heterozygote | 50% (1 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) |
Vas deferens | N/A | heterozygote | Not available |
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 | Loss of Purkinje cells in the cerebellar vermis, Gliosis, Hypoplasia of the pons, 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 | Gliosis, Amyotrophic lateral sclerosis | OMIM:300857 | |
Spinocerebellar Ataxia, Autosomal Recessive 2 | Cerebellar hypoplasia, Cerebellar vermis atrophy, Dilated fourth ventricle, Gliosis | 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 hemisphere hypoplasia, Cerebellar atrophy, Gliosis | OMIM:615095 | |
Developmental And Epileptic Encephalopathy 14 | Gliosis | OMIM:614959 | |
Congenital Neuronal Ceroid Lipofuscinosis | Cerebellar hypoplasia, Abnormal astrocyte morphology, Cerebellar atrophy, Gliosis | ORPHA:168486 | |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 | Abnormal lower motor neuron morphology, Gliosis, Amyotrophic lateral sclerosis | OMIM:105550 | |
Spinocerebellar Ataxia, Autosomal Recessive 27 | Cerebellar atrophy, Gliosis | OMIM:618369 | |
Hemimegalencephaly | Abnormal neuron morphology, Gliosis | ORPHA:99802 | |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type | Gliosis, Degeneration of anterior horn cells | OMIM:604484 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 | Gliosis | OMIM:615119 | |
Pick Disease Of Brain | Gliosis | OMIM:172700 | |
Melorheostosis, Isolated | Increased bone mineral density, Hyperostosis | OMIM:155950 | |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies | Gliosis | OMIM:604218 | |
Spinocerebellar Ataxia 17 | Cerebellar atrophy, Gliosis | OMIM:607136 | |
Adducted Thumbs Syndrome | Myelin-dependent gliosis | OMIM:201550 | |
Primary Non-Essential Cutis Verticis Gyrata | Gliosis | ORPHA:357225 | |
L-2-Hydroxyglutaric Aciduria | Cerebellar atrophy, Gliosis | OMIM:236792 | |
Intellectual Developmental Disorder, X-Linked 12 | Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Gliosis | OMIM:300957 | |
Spastic Paraplegia 50, Autosomal Recessive | Cerebellar atrophy, Gliosis | OMIM:612936 | |
Frontotemporal Dementia With Motor Neuron Disease | Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Gliosis | ORPHA:275872 | |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 | Gliosis | OMIM:221820 | |
Pyruvate Dehydrogenase E1-Alpha Deficiency | Cerebellar gliosis, Cerebellar cyst, Gliosis, Basal ganglia gliosis | ORPHA:79243 | |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome | Cerebellar dysplasia, Gliosis | ORPHA:457240 | |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 | Abnormal upper motor neuron morphology, Gliosis | OMIM:221770 | |
Leukoencephalopathy With Vanishing White Matter 1 | Gliosis | OMIM:603896 | |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 | Gliosis | OMIM:608033 | |
Sporadic Creutzfeldt-Jakob Disease | Astrocytosis, Gliosis | ORPHA:204 | |
Cerebrooculofacioskeletal Syndrome 1 | Cerebellar hypoplasia, Cerebellar atrophy, Gliosis | OMIM:214150 | |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant | Abnormal cerebellum morphology, Gliosis | OMIM:169500 | |
Pontocerebellar Hypoplasia, Type 2A | Cerebellar hypoplasia, Gliosis, Hypoplasia of the pons | OMIM:277470 | |
Huntington Disease-Like 1 | Cerebellar atrophy, Gliosis | ORPHA:157941 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 | Gliosis, Cerebellar atrophy, Basal ganglia gliosis | OMIM:604377 | |
Spongiform Encephalopathy With Neuropsychiatric Features | Gliosis | OMIM:606688 | |
Neurodegeneration With Brain Iron Accumulation 2A | Cerebellar atrophy, Gliosis | OMIM:256600 | |
Leigh Syndrome, Nuclear | Gliosis | OMIM:256000 | |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome | Cerebellar hypoplasia, Gliosis | ORPHA:3240 | |
Combined Oxidative Phosphorylation Deficiency 24 | Cerebellar atrophy, Gliosis | OMIM:616239 | |
Lissencephaly, X-Linked, 2 | Gliosis | OMIM:300215 | |
Machado-Joseph Disease | Dilated fourth ventricle, Cerebellar atrophy, Gliosis | OMIM:109150 | |
Combined Oxidative Phosphorylation Deficiency 14 | Gliosis, Cerebellar atrophy, Basal ganglia gliosis | OMIM:614946 | |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal | Gliosis | OMIM:614498 | |
Pelizaeus-Merzbacher Disease, Connatal Form | Cerebellar hypoplasia, Gliosis | ORPHA:280210 | |
Kleefstra Syndrome Due To A Point Mutation | Cerebellar hypoplasia, Gliosis | 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 | |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly | Gliosis | OMIM:619847 | |
Mannosidosis, Alpha B, Lysosomal | Cerebellar atrophy, Gliosis | OMIM:248500 | |
Combined Oxidative Phosphorylation Deficiency 58 | Cerebellar atrophy, Gliosis | OMIM:620451 | |
Leigh Syndrome | Abnormal dentate nucleus morphology, Cerebellar atrophy, Gliosis, Olivopontocerebellar atrophy | ORPHA:506 | |
Multiple Acyl-Coa Dehydrogenase Deficiency | Gliosis | ORPHA:26791 | |
Progressive Supranuclear Palsy | Gliosis | ORPHA:683 | |
Multiple Acyl-Coa Dehydrogenase Deficiency | Gliosis | OMIM:231680 | |
Papillorenal Syndrome | Chiari type I malformation, Gliosis | OMIM:120330 | |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related | Gliosis | OMIM:607485 | |
Tay-Sachs Disease | Cerebellar atrophy, Gliosis | ORPHA:845 | |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 | Gliosis | OMIM:618321 | |
Parkinson Disease 1, Autosomal Dominant | Gliosis | OMIM:168601 | |
D-Bifunctional Protein Deficiency | Cerebellar atrophy, Gliosis | OMIM:261515 | |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis | Cerebellar atrophy, Gliosis | OMIM:301072 | |
Cerebrotendinous Xanthomatosis | Cerebellar atrophy, Abnormal cerebellum morphology, Abnormal dentate nucleus morphology, Gliosis,... | ORPHA:909 | |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) | Astrocytosis, Cerebellar atrophy, Gliosis | OMIM:203700 | |
Mitochondrial Complex I Deficiency, Nuclear Type 2 | Gliosis | OMIM:618222 | |
Molybdenum Cofactor Deficiency, Type B | Gliosis | OMIM:252160 | |
Molybdenum Cofactor Deficiency, Type A | Gliosis | OMIM:252150 | |
Hereditary Late-Onset Parkinson Disease | Gliosis | ORPHA:411602 | |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome | Cerebellar atrophy, Gliosis | ORPHA:404454 | |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 | Cerebellar hypoplasia, Abnormal pons morphology, Gliosis | OMIM:300868 | |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity | Gliosis | OMIM:620371 | |
Cockayne Syndrome | Cerebellar dentate nucleus calcification, Cerebellar atrophy, Gliosis | ORPHA:191 | |
Congenital Disorder Of Deglycosylation 1 | Gliosis | OMIM:615273 | |
Supranuclear Palsy, Progressive, 1 | Astrocytosis, Gliosis | OMIM:601104 | |
Helsmoortel-Van Der Aa Syndrome | Gliosis | OMIM:615873 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 | Cerebellar atrophy, Gliosis | OMIM:124000 | |
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures | Cerebellar vermis hypoplasia, Gliosis, Hypoplasia of the pons | OMIM:620455 | |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion | Gliosis | ORPHA:268261 | |
Supranuclear Palsy, Progressive, 2 | Gliosis | OMIM:609454 | |
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 |
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 |
---|---|---|
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 |
Get highlights of the most important data releases, news and events, delivered straight to your email inbox
Subscribe to newsletter