Gene Summary

Name:
desmocollin 3
Synonyms:
5430426I24Rik

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
preweaning lethality, complete penetrance Dsc3tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
hyperactivity Dsc3tm1b(EUCOMM)Wtsi HET Early adult 4.51×10-06
abnormal behavior Dsc3tm1b(EUCOMM)Wtsi HET Early adult 3.91×10-05
absent optic nerve Dsc3tm1b(EUCOMM)Wtsi HET Early adult 0.00
decreased thigmotaxis Dsc3tm1b(EUCOMM)Wtsi HET Early adult 3.91×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount 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)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem 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)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hypothalamus 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)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe 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 0.0% (0 of 2)
Skeletal muscle 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)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea 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)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
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)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 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%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
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)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Adult LacZ

LacZ Images Wholemount

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Dsc3 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 Dsc3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypotrichosis And Recurrent Skin Vesicles
OMIM:613102

The table below shows human diseases predicted to be associated to Dsc3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:280397
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Emotional lability, Optic nerve hypoplasia, Dysmetria, Attention deficit hyperactivity di... OMIM:614306
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Morning glory anomaly, Microphth... OMIM:120200
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Immunodeficiency 8
Hyperactivity OMIM:615401
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Mental Retardation, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia, Attention deficit hyperactivity disorder OMIM:617914
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Irritability, Optic nerve hypoplasia, Attention deficit hyperactivity disorder OMIM:617864
Gluteal Muscles, Absence Of
Optic nerve hypoplasia OMIM:231970
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabil... ORPHA:248111
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Lethargy, Hyperactivity OMIM:274270
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an... ORPHA:3077
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Chromosome 19P13.13 Deletion Syndrome
Self-injurious behavior, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, Retinal detachment OMIM:615113
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Lennox-Gastaut Syndrome
Personality disorder, Falls, Aggressive behavior, Hyperactivity ORPHA:2382
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Emotional lability, Impulsivity, Anxiety, Hyperacti... ORPHA:98818
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Gait disturbance, Optic atrophy, Optic nerve hypoplasia ORPHA:163937
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Optic Atrophy 11
Facial diplegia, Ataxia, Dysmetria, Hyperactivity, Optic atrophy OMIM:617302
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia ORPHA:65288
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Cerebral Visual Impairment
Retinopathy of prematurity, Increased cup-to-disc ratio, Optic nerve hypoplasia, Attention defici... ORPHA:447788
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Optic Atrophy-Intellectual Disability Syndrome
Optic disc hypoplasia, Optic atrophy, Optic nerve hypoplasia, Attention deficit hyperactivity dis... ORPHA:401777
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia, Retinal detachment OMIM:615181
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Gait ataxia, Spastic gait, Peripheral axonal neuropathy, Optic nerve hypoplasia, Optic atrophy ORPHA:496790
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Inappropriate laughter, Low frustration tolerance, Optic nerve hypoplasia, Hyper... ORPHA:363686
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Impulsivity, Depression ORPHA:88616
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Infantile Neuroaxonal Dystrophy
Dystonia, Diffuse axonal swelling, Gait disturbance, Abnormal autonomic nervous system physiology... ORPHA:35069
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Trichothiodystrophy 5, Nonphotosensitive
Optic nerve hypoplasia, Broad-based gait, Retinal dystrophy OMIM:300953
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Aggressive behavior, Hyperactivity ORPHA:369939
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Nabais Sa-De Vries Syndrome, Type 1
Self-injurious behavior, Optic nerve hypoplasia OMIM:618828
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Gait ataxia, Decreased nerve conduction velocity, Limb ataxia, Absent brainste... ORPHA:101085
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:228384
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Squalene Synthase Deficiency
Irritability, Optic nerve hypoplasia OMIM:618156
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia OMIM:618736
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia OMIM:615033
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Dystonia, Spastic ataxia, Abnormal autonomic nervous system physiology, Emotio... ORPHA:300570
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Optic nerve hypoplasia, Microphthalmia, Retinal detachment ORPHA:370959
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Attention defic... ORPHA:1929
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia OMIM:615280
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Aganglionic megacolon, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia, Attention deficit hyperactivity disorder OMIM:612513
Myoclonic-Astatic Epilepsy
Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Microphthalmia, Hyperactivity, Attention... ORPHA:1942
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Retinal dystrophy, Anophthalmia OMIM:610125
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
19P13.13 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Attention deficit hyperactivity disorder ORPHA:357001
2P15P16.1 Microdeletion Syndrome
Gait disturbance, Facial palsy, Optic nerve hypoplasia, Optic atrophy, Attention deficit hyperact... ORPHA:261349
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Gait disturbance, Inappropriate sexual behavior, Hyperactivit... ORPHA:43
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Gait disturbance, Retinal degeneration, Ataxia, Low frust... ORPHA:168491
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor OMIM:614104
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, A... ORPHA:449291
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Hyp... OMIM:103050
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous s... OMIM:256800
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivity, Conspicuously h... OMIM:123450
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic nerve hypoplasia, Optic disc pallor OMIM:300749
Aniridia 1
Aniridia, Macular agenesis, Chorioretinal hypopigmentation, Hypoplasia of the iris, Optic nerve h... OMIM:106210
Fg Syndrome Type 1
Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Broad-based gait ORPHA:93932
Phace Association
Optic nerve hypoplasia, Microphthalmia, Increased retinal vascularity, Optic atrophy, Horner synd... OMIM:606519
Lamb-Shaffer Syndrome
Optic atrophy, Ataxia, Hyperactivity ORPHA:530983
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Hyperactivity OMIM:601853
Smith-Magenis Syndrome
Head-banging, Self-mutilation, Retinal detachment, Hyperactivity OMIM:182290
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Gait ataxia, Aggressive behavior, Mood swings OMIM:300354
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:600430
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Optic nerve hypoplasia OMIM:301056
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:3157
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Gait ataxia, Ataxia, Hyperactivity ORPHA:363400
Angelman Syndrome
Inability to walk, Inappropriate laughter, Aggressive behavior, Broad-based gait, Self-injurious ... ORPHA:72
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal dysplasia, Optic nerve hypoplasia, Microphthalmi... OMIM:614643
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Ataxia, Hyperactivity OMIM:610042
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Pigmentary retinopathy, Depression, Akinesia, Gait disturbance, Blepharospasm, Retinal ... OMIM:234200
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Aggressive behavior, Ataxia, Hyperactivity OMIM:618430
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
47,Xyy Syndrome
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder, Congenital stationary night... ORPHA:8
Joubert Syndrome 1
Self-mutilation, Chorioretinal coloboma, Aggressive behavior, Ataxia, Retinal dystrophy, Retinal ... OMIM:213300
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:261250
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:485405
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal atrophy, Retinal dysplasia, Optic nerve hypoplasia, Microphthalmia, Retinal detachment, O... OMIM:236670
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Optic nerve hypoplasia, Ataxia ORPHA:221139
Hydranencephaly
Chorioretinal atrophy, Optic nerve hypoplasia, Lethargy ORPHA:2177
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Attenuation of retinal blood vessels, Self-injurious behavior, Bilateral microphthalmos, Optic ne... ORPHA:468631
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Hyperactivity OMIM:252920
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia OMIM:609069
Choreoacanthocytosis
Hair-pulling, Decreased number of peripheral myelinated nerve fibers, Emotional lability, Head-ba... ORPHA:2388
Glass Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor OMIM:612313
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Hyperactivity ORPHA:457284
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity ORPHA:412035
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aggressive behavior, Attention deficit hyperactivity disorder, Broad-base... ORPHA:495875
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low frustration tolerance, Aggressive behavior, Emotional lability OMIM:309520
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia, Retinal vascular tortuosity OMIM:243605
Angelman Syndrome
Progressive gait ataxia, Paroxysmal bursts of laughter, Broad-based gait, Hyperactivity OMIM:105830
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon, Ataxia ORPHA:59315
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Facial palsy, Optic nerve hypoplasia, Microphthalmia, Abnormality of the optic ... ORPHA:508498
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Peripheral axonal neuropathy, Dy... ORPHA:139396
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormality of the optic nerve, Optic nerve hypoplasia, Inability to walk ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormality of the optic nerve, Optic nerve hypoplasia, Inability to walk ORPHA:352665
Histidinemia
Hyperactivity ORPHA:2157
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia OMIM:617506
Mucopolysaccharidosis, Type Iiic
Rod-cone dystrophy, Hyperactivity OMIM:252930
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Retinal astrocytic hamartoma, Aggressive behavior, Depression, Pheoch... ORPHA:805
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia OMIM:301043
Stankiewicz-Isidor Syndrome
Hyperactivity, Abnormality of the optic disc OMIM:617516
Citrullinemia Type Ii
Lethargy, Irritability, Aggressive behavior, Hyperactivity ORPHA:247585
White-Sutton Syndrome
Aggressive behavior, Self-injurious behavior, Hyperactivity, Optic atrophy, Rod-cone dystrophy ORPHA:468678
Phace Syndrome
Retinal vascular malformation, Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Optic nerve hypoplasia ORPHA:226307
Argininemia
Spastic gait, Irritability, Hyperactivity OMIM:207800
Mucopolysaccharidosis Type 3
Disinhibition, Aggressive behavior, Pigmentary retinopathy, Hypersexuality, Gait disturbance, Ret... ORPHA:581
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Aggressive behavior, Papilledema, Abnormal foveal morphology... ORPHA:580
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Optic nerve hypoplasia, Retinal dystrophy OMIM:619321
Spondylodysplastic Ehlers-Danlos Syndrome
Optic disc coloboma, Optic nerve hypoplasia ORPHA:536471
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia ORPHA:95496
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Orthostatic hypotension due to autonomic dysfunction, Abnormal emotion/affect be... ORPHA:642
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Microphthalmia, Aggressive behavior ORPHA:401973
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia ORPHA:500150
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Brooks-Wisniewski-Brown syndrome
Optic atrophy, Hyperactivity OMIM:300612
8Q24.3 Microdeletion Syndrome
Retinal coloboma, Bilateral microphthalmos, Low frustration tolerance, Optic nerve hypoplasia, Hy... ORPHA:508488
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:95494
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotional lability, Panic attack, Impu... ORPHA:353281
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Hyperactivity ORPHA:447997
Hypotrichosis And Recurrent Skin Vesicles
OMIM:613102

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 Dsc3

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 Dsc3.

No publications found that use IMPC mice or data for Dsc3.

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MGI Allele Allele Type Produced
Dsc3tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Dsc3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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