Gene: Actrt3 MGI:1923902

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Gene Summary

Name:
actin related protein T3
Synonyms:
1700119I24Rik,  Arpm1

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
hyperactivity Actrt3tm1.1(KOMP)Vlcg HOM Early adult 3.52×10-09
increased vertical activity Actrt3tm1.1(KOMP)Vlcg HOM   Early adult 3.45×10-05
abnormal coat/ hair morphology Actrt3tm1.1(KOMP)Vlcg HOM Early adult 4.72×10-08

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
Brain  Section images heterozygote Ambiguous
Brainstem  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta 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)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus 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 Not available
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)
Olfactory lobe 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)
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 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus 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)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 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
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
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 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

9 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Adult LacZ

LacZ Images Section

10 Images

Combined SHIRPA and Dysmorphology

Images

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

2 Images

Human diseases caused by Actrt3 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 Actrt3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder OMIM:245570
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Sotos Syndrome 3
Hyperactivity OMIM:617169
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Hyperactivity ORPHA:85288
Alazami-Yuan Syndrome
Highly arched eyebrow, Low anterior hairline, Hirsutism, Long eyelashes, Synophrys, Thick eyebrow... OMIM:617126
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Xq25 Duplication Syndrome
Highly arched eyebrow, Thick eyebrow, Sparse eyebrow, Hyperactivity OMIM:300979
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Bradykinesia, Oculogyric crisis, Attention deficit hyperactivity disorder, Broad-based ... OMIM:617384
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Coffin-Siris Syndrome 8
Sparse scalp hair, Thick eyebrow, Long eyelashes, Hyperactivity OMIM:618362
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Mental Retardation, Autosomal Recessive 39
Synophrys, Hyperactivity OMIM:615541
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hirsutism, Hyperactivity OMIM:300434
Xq25 Microduplication Syndrome
Highly arched eyebrow, Sparse eyebrow, Hyperactivity ORPHA:521258
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Mental Retardation, Autosomal Recessive 61
Highly arched eyebrow, Long eyelashes, Synophrys, Thick eyebrow, Hyperactivity OMIM:617773
Gand Syndrome
Sparse hair, Hyperactivity OMIM:615074
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hypopigmentation of hair, Ataxia, Hyperactivity ORPHA:411515
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder, Fair hair OMIM:261600
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Highly arched eyebrow, Hyperactivity OMIM:618342
Rubinstein-Taybi Syndrome 2
Hirsutism, Long eyelashes, Hyperactivity OMIM:613684
Mental Retardation, Autosomal Recessive 13
Synophrys, Hyperactivity OMIM:613192
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Thick eyebrow, Broad-based gait, Hyperactivity OMIM:617865
Histidinemia
Hyperactivity ORPHA:2157
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Synophrys, Hyperactivity OMIM:615824
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Coffin-Siris Syndrome 7
Sparse scalp hair, Thick eyebrow, Hyperactivity OMIM:618027
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Hyperactivity ORPHA:88616
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Synophrys, Hyperactivity OMIM:252900
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Intellectual Developmental Disorder, X-Linked 21
Synophrys, Hyperactivity OMIM:300143
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Limb dystonia, Hyperactivity, Generalized hirsutism ORPHA:363400
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Ataxia, Synophrys, Hyperactivity, Generalized hirsutism ORPHA:228402
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Myoclonic-Astatic Epilepsy
Ataxia, Unsteady gait, Frontal balding, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:1942
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys, Hyperactivity OMIM:252920
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Red hair, Fair hair OMIM:614613
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity OMIM:615286
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:1929
Fragile X Syndrome
Hyperactivity OMIM:300624
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity OMIM:300958
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Long eyelashes, Hyperactivity OMIM:618089
Intellectual Developmental Disorder, X-Linked 98
Ataxia, Hyperactivity OMIM:300912
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Mucopolysaccharidosis, Type Iiic
Hirsutism, Coarse hair, Synophrys, Hyperactivity OMIM:252930
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity ORPHA:369939
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Low posterior hairline, Attention deficit hyperactivity disorder, Hyperact... ORPHA:73272
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Mucopolysaccharidosis, Type Iiid
Hirsutism, Coarse hair, Synophrys, Thick eyebrow, Hyperactivity OMIM:252940
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Ataxia, Hyperactivity OMIM:614104
Mend Syndrome
Hyperactivity OMIM:300960
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Hyperactivity OMIM:600430
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity ORPHA:530983
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Synophrys, Hyperactivity ORPHA:391307
Gomez-Lopez-Hernandez Syndrome
Ataxia, Alopecia, Hyperactivity OMIM:601853
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Intellectual Disability, Birk-Barel Type
Highly arched eyebrow, Hyperactivity ORPHA:166108
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Ataxia, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Curly hair, Hyperactivity ORPHA:457485
Angelman Syndrome
Hyperactivity, Progressive gait ataxia, Broad-based gait, Fair hair OMIM:105830
Glass Syndrome
Sparse hair, Broad-based gait, Hyperactivity OMIM:612313
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Gait disturbance, Ataxia, Hyperactivity ORPHA:168491
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Nail dystrophy, Hyperactivity OMIM:256800
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Hyperactivity OMIM:103050
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity OMIM:300486
16P12.1P12.3 Triplication Syndrome
Thick eyebrow, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:485405
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Abnormal hair pattern, Synophrys, Hyperactivity ORPHA:85293
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hypoplastic nipples, Hyperactivity OMIM:618505
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:449291
Bone Marrow Failure Syndrome 3
Hyperactivity, Sparse hair, Nail dystrophy, Aplasia/Hypoplasia of the eyebrow OMIM:617052
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Sparse hair, Curly hair, Long eyelashes, Sparse scalp hair, Loose anagen hair, Hyperactivity, Att... OMIM:607721
Hyperlysinemia
Thin eyebrow, Tip-toe gait, Dysmetria, Hyperactivity ORPHA:2203
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Brooks-Wisniewski-Brown syndrome
Low posterior hairline, Hyperactivity OMIM:300612
Oculoectodermal Syndrome
Supernumerary nipple, Hyperactivity OMIM:600268
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal hair whorl ORPHA:457284
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Red hair, Fair hair ORPHA:280651
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Synophrys, Hyperactivity ORPHA:447997
Choreoacanthocytosis
Blepharospasm, Bradykinesia, Lingual dystonia, Laryngeal dystonia, Progressive inability to walk,... ORPHA:2388

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 Actrt3

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 Actrt3.

No publications found that use IMPC mice or data for Actrt3.

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MGI Allele Allele Type Produced
Actrt3tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Actrt3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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