Gene Summary

Name:
ATPase type 13A2
Synonyms:
1110012E06Rik

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.

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Bone  Wholemount images heterozygote Ambiguous
Bone  Wholemount images homozygote Ambiguous
Brain  Wholemount images heterozygote 100% (4 of 4)
Brain  Wholemount images homozygote 100% (2 of 2)
Cecum  Wholemount images heterozygote Ambiguous
Cecum  Wholemount images homozygote Ambiguous
Chest bone  Wholemount images heterozygote Ambiguous
Chest bone  Wholemount images homozygote Ambiguous
Duodenum  Wholemount images heterozygote 0.0% (0 of 4)
Duodenum  Wholemount images homozygote 0.0% (0 of 2)
Epididymis  Wholemount images heterozygote Not available
Epididymis  Wholemount images homozygote Not available
Esophagus  Wholemount images homozygote Ambiguous
Eye  Wholemount images heterozygote 0.0% (0 of 4)
Eye  Wholemount images homozygote Ambiguous
Gall bladder  Wholemount images heterozygote Ambiguous
Gall bladder  Wholemount images homozygote Ambiguous
Harderian gland  Wholemount images heterozygote 100% (4 of 4)
Harderian gland  Wholemount images homozygote 100% (2 of 2)
Ileum  Wholemount images heterozygote Ambiguous
Ileum  Wholemount images homozygote Ambiguous
Jejunum  Wholemount images heterozygote Ambiguous
Jejunum  Wholemount images homozygote Ambiguous
Kidney  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images homozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote Ambiguous
Large intestine  Wholemount images homozygote Ambiguous
Liver  Wholemount images heterozygote 0.0% (0 of 4)
Liver  Wholemount images homozygote 0.0% (0 of 2)
Lung  Wholemount images heterozygote Ambiguous
Lung  Wholemount images homozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 0.0% (0 of 4)
Lymph node  Wholemount images homozygote Not available
Main olfactory bulb  Wholemount images heterozygote 0.0% (0 of 4)
Main olfactory bulb  Wholemount images homozygote Ambiguous
Mesenteric lymph node  Wholemount images heterozygote Ambiguous
Mesenteric lymph node  Wholemount images homozygote Ambiguous
Ovary  Wholemount images heterozygote Not available
Ovary  Wholemount images homozygote Not available
Oviduct  Wholemount images heterozygote Not available
Oviduct  Wholemount images homozygote Not available
Pancreas  Wholemount images heterozygote 100% (4 of 4)
Pancreas  Wholemount images homozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote Ambiguous
Parathyroid gland  Wholemount images homozygote Not available
Parotid gland  Wholemount images heterozygote 100% (4 of 4)
Parotid gland  Wholemount images homozygote 100% (2 of 2)
Penis  Wholemount images heterozygote 0.0% (0 of 4)
Penis  Wholemount images homozygote Not available
Pituitary gland  Wholemount images heterozygote 0.0% (0 of 4)
Pituitary gland  Wholemount images homozygote Ambiguous
Prostate gland  Wholemount images heterozygote Not available
Prostate gland  Wholemount images homozygote Not available
Skin  Wholemount images heterozygote 100% (4 of 4)
Skin  Wholemount images homozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images homozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote Ambiguous
Spleen  Wholemount images homozygote Ambiguous
Stomach  Wholemount images heterozygote Ambiguous
Stomach  Wholemount images homozygote Ambiguous
Sublingual gland  Wholemount images heterozygote Ambiguous
Sublingual gland  Wholemount images homozygote Ambiguous
Submandibular gland  Wholemount images heterozygote Ambiguous
Submandibular gland  Wholemount images homozygote Ambiguous
Testis  Wholemount images heterozygote 50% (2 of 4)
Testis  Wholemount images homozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 0.0% (0 of 4)
Thymus  Wholemount images homozygote Ambiguous
Thyroid gland  Wholemount images heterozygote Ambiguous
Thyroid gland  Wholemount images homozygote Ambiguous
Tongue  Wholemount images heterozygote 100% (4 of 4)
Tongue  Wholemount images homozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 0.0% (0 of 4)
Trachea  Wholemount images homozygote Ambiguous
Trigeminal V nerve  Wholemount images heterozygote 0.0% (0 of 4)
Trigeminal V nerve  Wholemount images homozygote 0.0% (0 of 2)
Urinary bladder  Wholemount images heterozygote Ambiguous
Urinary bladder  Wholemount images homozygote Ambiguous
Uterus  Wholemount images heterozygote 50% (2 of 4)
Uterus  Wholemount images homozygote 50% (1 of 2)
Vagina  Wholemount images heterozygote 50% (2 of 4)
Vagina  Wholemount images homozygote 50% (1 of 2)
Vesicular gland  Wholemount images heterozygote Not available
Vesicular gland  Wholemount images homozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Adrenal gland N/A homozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 4)
Aorta N/A homozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 4)
Brainstem N/A homozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A homozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Ambiguous
Cartilage tissue N/A homozygote Ambiguous
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebellum N/A homozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A homozygote 0.0% (0 of 2)
Colon N/A heterozygote Ambiguous
Colon N/A homozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Cranium N/A homozygote Ambiguous
Diaphragm N/A heterozygote 0.0% (0 of 4)
Diaphragm N/A homozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 4)
Heart N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A homozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A homozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A homozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Ambiguous
Lower urinary tract N/A homozygote Ambiguous
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A homozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 4)
Midbrain N/A homozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A homozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A homozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A homozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A homozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A homozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A homozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A homozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Ambiguous
Small intestine N/A homozygote Ambiguous
Stomach pyloric region N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A homozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 4)
Striatum N/A homozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 4)
Thalamus N/A homozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vas deferens N/A homozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 4)
Vascular system N/A homozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A homozygote 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
Embryo N/A heterozygote 0.0% (0 of 5)
Head N/A heterozygote 0.0% (0 of 5)
Brain N/A heterozygote 0.0% (0 of 5)
Ear N/A heterozygote 0.0% (0 of 5)
Eye N/A heterozygote 0.0% (0 of 5)
Footplate N/A heterozygote 0.0% (0 of 5)
Forearm N/A heterozygote 0.0% (0 of 5)
Forebrain N/A heterozygote 0.0% (0 of 5)
Forelimb N/A heterozygote 0.0% (0 of 5)
Handplate N/A heterozygote 0.0% (0 of 5)
Heart N/A heterozygote 0.0% (0 of 5)
Hindbrain N/A heterozygote 0.0% (0 of 5)
Hindlimb N/A heterozygote 0.0% (0 of 5)
Liver N/A heterozygote 0.0% (0 of 5)
Lower leg N/A heterozygote 0.0% (0 of 5)
Lung N/A heterozygote 0.0% (0 of 5)
Mandibular process N/A heterozygote 0.0% (0 of 5)
Maxillary process N/A heterozygote 0.0% (0 of 5)
Midbrain N/A heterozygote 0.0% (0 of 5)
Oral cavity N/A heterozygote 0.0% (0 of 5)
Skin N/A heterozygote 0.0% (0 of 5)
Tail somite N/A heterozygote 0.0% (0 of 5)
Tail N/A heterozygote 0.0% (0 of 5)
Upper arm N/A heterozygote 0.0% (0 of 5)
Upper leg N/A heterozygote 0.0% (0 of 5)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
cranium
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 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 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

302 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

6 Images

Human diseases caused by Atp13a2 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 Atp13a2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Atp13a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Motor deterioration, Abnormal neuron morphology, Apathy, Bradykinesia, Shuffling gait, ... ORPHA:412066
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Aggressive behavior, Gait ataxia, Shyness OMIM:618221
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Gliosis, Tremor, Ataxia, Unsteady gait, Limb ataxia, Gait ataxia OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gliosis, Gait ataxia OMIM:618369
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity, Cafe-au-lait spot ORPHA:436151
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Gait disturbance, Basal ganglia gliosis, Astrocytosis, Loss of ability to walk, Ataxia,... ORPHA:225154
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Hand tremor, Gliosis, Gait disturbance OMIM:604484
Motor Neuron Disease With Dementia And Ophthalmoplegia
Degeneration of anterior horn cells, Astrocytosis OMIM:600333
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Astrocytosis OMIM:600795
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Astrocytosis ORPHA:100070
Huntington Disease
Gait ataxia, Gliosis, Bradykinesia OMIM:143100
Spinocerebellar Ataxia 17
Dystonia, Dysmetria, Gliosis, Bradykinesia, Intention tremor, Ataxia, Broad-based gait, Limb atax... OMIM:607136
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Lethargy OMIM:613002
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Gliosis, Astrocytosis ORPHA:204
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Gliosis, Shuffling gait, Bradykinesia OMIM:221820
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Astrocytosis OMIM:172500
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Astrocytosis ORPHA:275864
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Developmental And Epileptic Encephalopathy 14
Gliosis OMIM:614959
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Difficulty walking, Astrocytosis OMIM:611087
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Astrocytosis, Tremor, Progressive cerebellar ataxia, Gait ataxia ORPHA:282166
Hemimegalencephaly
Abnormal neuron morphology, Gliosis ORPHA:99802
Frontotemporal Dementia With Motor Neuron Disease
Gliosis, Progressive cerebellar ataxia, Abnormal lower motor neuron morphology, Abnormal mitochon... ORPHA:275872
Pontocerebellar Hypoplasia, Type 4
Gliosis OMIM:225753
Leukoencephalopathy With Vanishing White Matter
Unsteady gait, Gait disturbance, Gliosis, Lethargy OMIM:603896
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Gliosis, Amyotrophic lateral sclerosis OMIM:105550
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gait disturbance, Gliosis, Abnormal upper motor neuron morphology OMIM:221770
Progressive Supranuclear Palsy
Dystonia, Gliosis, Falls, Bradykinesia, Tremor, Unsteady gait, Blepharospasm ORPHA:683
Spastic Paraplegia 50, Autosomal Recessive
Gliosis OMIM:612936
Pick Disease Of Brain
Gliosis OMIM:172700
Leigh Syndrome
Dystonia, Gliosis, Ataxia, Pigmentary retinopathy OMIM:256000
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Gliosis ORPHA:168486
Spastic Paraplegia 78, Autosomal Recessive
Dementia, Aggressive behavior, Falls, Bradykinesia, Distal sensory impairment, Ataxia, Impaired v... OMIM:617225
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Abnormal social behavior, Agoraphobia, Inability to wal... ORPHA:255
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Gliosis, Shuffling gait, Bradykinesia, Resting tremor OMIM:168601
Cerebrooculofacioskeletal Syndrome 1
Gliosis OMIM:214150
Spinocerebellar Ataxia, X-Linked 3
Head titubation, Dysmetria, Gliosis, Intention tremor, Lethargy OMIM:301790
Combined Oxidative Phosphorylation Deficiency 14
Gliosis OMIM:614946
Huntington Disease-Like 1
Gait disturbance, Dysmetria, Gliosis, Bradykinesia, Gait ataxia ORPHA:157941
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis OMIM:604218
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Ataxia, Gliosis OMIM:220111
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Cerebellar gliosis, Gliosis, Basal ganglia gliosis, Ataxia, Inability to walk ORPHA:79243
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Gait disturbance, Gliosis ORPHA:457240
Pelizaeus-Merzbacher Disease, Connatal Form
Dystonic gait, Gliosis, Ataxia, Inability to walk, Titubation, Difficulty walking ORPHA:280210
Intellectual Developmental Disorder, X-Linked 12
Tremor, Gait disturbance, Gliosis OMIM:300957
Early-Onset Schizophrenia
Shyness, No social interaction, Unhappy demeanor, Suicidal ideation, Cognitive impairment, Lack o... ORPHA:96369
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Gliosis OMIM:614498
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Gait disturbance, Dystonia, Bradykinesia, Astrocytosis, Dysdiadochokinesis, Truncal ataxia, Actio... ORPHA:309854
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Ataxia, Abnormal social behavior, Neurofibrillary tangles, Memory im... ORPHA:1020
Machado-Joseph Disease
Dystonia, Gliosis, Bradykinesia, Progressive cerebellar ataxia, Ataxia, Truncal ataxia, Limb ataxia OMIM:109150
Neurodegeneration With Brain Iron Accumulation 4
Gait disturbance, Dementia, Dystonia, Oromandibular dystonia, Lewy bodies, Ataxia, Emotional labi... OMIM:614298
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Dementia, Amyotrophic lateral sclerosis, Frontotemporal dementia, Neurofibrillary tangles, Memory... OMIM:619132
Pontocerebellar Hypoplasia, Type 2A
Gliosis, Opisthotonus OMIM:277470
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Gliosis, Astrocytosis OMIM:203700
Microcephaly 10, Primary, Autosomal Recessive
Gliosis OMIM:615095
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Gliosis, Ataxia, Lethargy OMIM:618321
Gerstmann-Straussler Disease
Dementia, Aggressive behavior, Bradykinesia, Emotional lability, Truncal ataxia, Neurofibrillary ... OMIM:137440
Neurodegeneration With Brain Iron Accumulation 2A
Unsteady gait, Ataxia, Gliosis OMIM:256600
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Gliosis, Head titubation, Vestibular areflexia ORPHA:3240
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Chorea, Lewy bodies, Bradykinesia, Hyperactivity, Emotional lability, Dysdia... OMIM:610217
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Gliosis, Degeneration of anterior horn cells OMIM:118301
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Amyotrophic lateral sclerosis, Lewy bodies, Memory impairment OMIM:619133
Hereditary Late-Onset Parkinson Disease
Dystonia, Gliosis, Shuffling gait, Bradykinesia, Resting tremor, Akinesia ORPHA:411602
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Gliosis OMIM:169500
Supranuclear Palsy, Progressive, 1
Gait imbalance, Axial dystonia, Gliosis, Falls, Bradykinesia, Retrocollis, Tremor, Akinesia, Limb... OMIM:601104
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
L-2-Hydroxyglutaric Aciduria
Gliosis OMIM:236792
Waisman Syndrome
Dementia, Bradykinesia, Shuffling gait, Lewy bodies OMIM:311510
Lissencephaly, X-Linked, 2
Gliosis OMIM:300215
Epilepsy, Progressive Myoclonic, 10
Dementia, Lafora bodies, Cognitive impairment, Spastic ataxia, Progressive cerebellar ataxia, Ataxia OMIM:616640
Early-Onset Lafora Body Disease
Mental deterioration, Ataxia, Lafora bodies ORPHA:324290
Supranuclear Palsy, Progressive, 2
Postural tremor, Gait imbalance, Axial dystonia, Gliosis, Falls, Bradykinesia, Retrocollis, Akinesia OMIM:609454
Parkinson Disease 23, Autosomal Recessive Early-Onset
Dementia, Lewy bodies, Akinesia, Mental deterioration, Neurofibrillary tangles, Limb dystonia OMIM:616840
Familial Acute Necrotizing Encephalopathy
Gait disturbance, Gliosis ORPHA:88619
Combined Oxidative Phosphorylation Deficiency 24
Gliosis OMIM:616239
Tay-Sachs Disease
Gait disturbance, Dystonia, Dysmetria, Gliosis, Exaggerated startle response, Laryngeal dystonia,... ORPHA:845
Primary Progressive Freezing Gait
Dementia, Gait imbalance, Shuffling gait, Bradykinesia, Lewy bodies, Difficulty walking ORPHA:75567
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Astrocytosis ORPHA:258
Cockayne Syndrome Type 3
Astrocytosis, Intention tremor, Unsteady gait, Difficulty walking, Premature graying of hair ORPHA:90324
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Ataxia, Inability to walk, Gliosis OMIM:617193
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Cognitive impairment, Gait disturbance, Bradykinesia ORPHA:314632
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Lewy bodies, Frontotemporal dementia, Neurofibrillary tangles, Memory impairment, Progres... OMIM:607485
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Dementia, Dystonia, Chorea, Progressive gait ataxia, Emoti... ORPHA:309271
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Gliosis OMIM:602613
Mannosidosis, Alpha B, Lysosomal
Limb ataxia, Gliosis, Gait ataxia OMIM:248500
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gliosis ORPHA:26791
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Dementia, Cerebral amyloid angiopathy, Ataxia OMIM:117300
Kleefstra Syndrome Due To A Point Mutation
Gliosis ORPHA:261652
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis OMIM:231680
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis, Opisthotonus OMIM:252160
Leigh Syndrome
Athetosis, Dystonia, Gliosis, Ataxia ORPHA:506
Kufor-Rakeb Syndrome
Gait disturbance, Dementia, Dystonia, Torticollis, Aggressive behavior, Bradykinesia, Distal sens... OMIM:606693
Papillorenal Syndrome
Gliosis OMIM:120330
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Athetosis, Dystonia, Lingual dystonia, Gliosis, Inability to walk, Action tremor, Pigmentary reti... ORPHA:404454
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis, Opisthotonus OMIM:252150
Cerebrotendinous Xanthomatosis
Dystonia, Gait disturbance, Gliosis, Ataxia, Resting tremor, Attention deficit hyperactivity diso... ORPHA:909
Myoclonic Epilepsy Of Lafora
Gait disturbance, Dementia, Progressive neurologic deterioration, Lafora bodies OMIM:254780
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Dysmetria, Aggressive behavior, Ataxia, Nonprogressive cerebellar ataxia, Unsteady gait, Abnormal... ORPHA:314647
Autosomal Recessive Spastic Paraplegia Type 78
Dystonia, Dementia, Cognitive impairment, Progressive gait ataxia, Progressive cerebellar ataxia,... ORPHA:513436
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis OMIM:617403
Cockayne Syndrome
Gait disturbance, Abnormality of retinal pigmentation, Gliosis, Progressive gait ataxia, Intentio... ORPHA:191
D-Bifunctional Protein Deficiency
Gliosis OMIM:261515
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Abnormality of skin pigmentation, Gliosis OMIM:300868
Diets-Jongmans Syndrome
Attention deficit hyperactivity disorder, Gliosis OMIM:618846
Gabriele-De Vries Syndrome
Dystonia, Gliosis, Tremor, Waddling gait, Attention deficit hyperactivity disorder ORPHA:506358
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Gait disturbance, Gliosis, Ataxia, Broad-based gait ORPHA:268261
Kufor-Rakeb Syndrome
Gait disturbance, Dementia, Lingual dystonia, Apathy, Bradykinesia, Mental deterioration, Oculogy... ORPHA:306674

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 Atp13a2

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 Atp13a2.

No publications found that use IMPC mice or data for Atp13a2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Atp13a2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Atp13a2tm40031(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Atp13a2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atp13a2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Atp13a2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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