Gene Summary

Name:
ADAM metallopeptidase with thrombospondin type 1 motif 4
Synonyms:
ADAM-TS4,  aggrecanase-1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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 grip strength Adamts4tm1b(EUCOMM)Hmgu HOM Early adult 4.25×10-05
abnormal bone structure Adamts4tm1b(EUCOMM)Hmgu HOM Early adult 3.98×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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)
No Embryo expression data was found for this gene.

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%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of left eye

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

VIP of left fundus

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

4 Images

Human diseases caused by Adamts4 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.

No human diseases associated to this gene by orthology or annotation.

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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Adamts4

IMPC related publications

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 Adamts4.

No publications found that use IMPC mice or data for Adamts4.

Order Mouse and ES Cells

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

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