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Gene: Dsc3 MGI:1194993

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Gene Summary

Name:
desmocollin 3
Synonyms:
5430426I24Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
absent optic nerve Dsc3tm1b(EUCOMM)Wtsi HET Early adult 0.00
decreased thigmotaxis Dsc3tm1b(EUCOMM)Wtsi HET Early adult 3.86×10-05
abnormal behavior Dsc3tm1b(EUCOMM)Wtsi HET Early adult 3.86×10-05
preweaning lethality, complete penetrance Dsc3tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
hyperactivity Dsc3tm1b(EUCOMM)Wtsi HET Early adult 4.51×10-06

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 587)
aorta 0.17% (1 of 592)
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 586)
oral epithelium 0.0%
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
uterus 0.34% (2 of 589)
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 Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Wholemount

12 Images

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MicroCT E18.5

Embryo reconstruction

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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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
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Depression, Attention deficit hyperactivity disorder OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc coloboma, Microphthalm... OMIM:120200
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Morm Syndrome
Aggressive behavior, Hyperactivity, Retinal atrophy, Retinal dystrophy ORPHA:75858
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Unilateral microphthalm... ORPHA:137902
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Microphthalmia OMIM:617914
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... OMIM:615113
Gluteal Muscles, Absence Of
Optic nerve hypoplasia OMIM:231970
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior OMIM:619970
Glycine Encephalopathy
Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Irritability OMIM:617864
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Optic nerve aplasia, Anophthalmia, Microphthalmia OMIM:206900
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hyperactivity, Aggressive behavior OMIM:619470
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia, Attention deficit hyperactivity disorder OMIM:614306
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Aggressive behavior OMIM:300983
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Aniridia ORPHA:1068
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Self-injurious behavior OMIM:613638
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Bipolar affective disorder OMIM:619927
Coffin-Siris Syndrome 8
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:618362
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Hyperactivity, Microphthalmia OMIM:274270
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior OMIM:239500
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Self-biting, Nail-biting, Attenti... OMIM:619827
Lennox-Gastaut Syndrome
Personality disorder, Hyperactivity, Aggressive behavior ORPHA:2382
Chromosome 3Q29 Deletion Syndrome
Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... ORPHA:3077
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior OMIM:619467
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Self-mutilation, Optic nerve hypoplasia, Inappropriate laughter, Low frustration t... ORPHA:363686
Landau-Kleffner Syndrome
Impulsivity, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity disorder, Aggres... ORPHA:98818
Septooptic Dysplasia
Optic nerve hypoplasia, Optic disc hypoplasia OMIM:182230
Cerebral Visual Impairment
Increased cup-to-disc ratio, Optic nerve hypoplasia, Optic atrophy, Optic disc pallor, Attention ... ORPHA:447788
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Optic disc hypop... ORPHA:401777
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia ORPHA:65288
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Microphthalmia OMIM:615181
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior ORPHA:101039
Early-Onset Schizophrenia
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... ORPHA:96369
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Self-injurious behavior, Aggressive behavior ORPHA:382
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:271980
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the optic nerve ORPHA:137634
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hyperactivity, Aggressive behavior ORPHA:369939
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia, Self-injurious behavior OMIM:618828
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:228384
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Paroxysmal bursts of laughter OMIM:618718
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia OMIM:618736
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Optic nerve hypoplasia, Peripheral axonal neuropathy ORPHA:496790
Bresek Syndrome
Optic nerve hypoplasia, Aganglionic megacolon, Microphthalmia ORPHA:85284
Squalene Synthase Deficiency
Optic nerve hypoplasia, Irritability OMIM:618156
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Hyperactivity, Inappropriate laughter ORPHA:411515
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
White-Sutton Syndrome
Self-injurious behavior, Hyperactivity, Rod-cone dystrophy, Optic nerve hypoplasia, Anxiety, Aggr... OMIM:616364
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia OMIM:615033
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior OMIM:612716
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Optic nerve hypoplasia, Retinal detachment, Microphthalmia ORPHA:370959
Trichothiodystrophy 5, Nonphotosensitive
Optic nerve hypoplasia, Retinal dystrophy OMIM:300953
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Infantile Neuroaxonal Dystrophy
Impulsivity, Hyperactivity, Abnormal autonomic nervous system physiology, Peripheral axonal neuro... ORPHA:35069
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia, Attention deficit hyperactivity disorder OMIM:612513
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Retinal dystrophy, Microphthalmia OMIM:610125
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
19P13.13 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Attention deficit hyperactivity disorder ORPHA:357001
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia OMIM:615280
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Facial palsy, Attention deficit hyperactivity disorder ORPHA:261349
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... ORPHA:449291
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Microphthalmia, Increased retinal vascula... OMIM:606519
Aniridia 1
Optic nerve hypoplasia, Chorioretinal hypopigmentation, Hypoplasia of the fovea, Retinal vascular... OMIM:106210
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology, Emotional lability ORPHA:300570
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Abnormal autonomic nervous system physiology, Self-mutilation, Decreased number of... OMIM:256800
Intellectual Developmental Disorder, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity OMIM:617600
X-Linked Adrenoleukodystrophy
Inappropriate sexual behavior, Hyperactivity, Attention deficit hyperactivity disorder, Disinhibi... ORPHA:43
Fg Syndrome Type 1
Optic nerve hypoplasia, Attention deficit hyperactivity disorder ORPHA:93932
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased number of large peripheral myelinated nerve fibers... ORPHA:101085
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Optic nerve hypoplasia OMIM:301056
Septo-Optic Dysplasia Spectrum
Optic nerve hypoplasia, Septo-optic dysplasia ORPHA:3157
D-Glyceric Aciduria
Optic nerve hypoplasia OMIM:220120
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Retinal coloboma, Optic disc pallor, Optic nerve hypoplasia OMIM:300749
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Microphthalm... OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Retinal detachment, Optic atrophy, Retinal atrophy, Microphthalmia, Retin... OMIM:236670
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:261250
Brachytelephalangic Chondrodysplasia Punctata
Optic nerve hypoplasia, Optic disc hypoplasia ORPHA:79345
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Optic nerve hypoplasia, Attenuation of retinal blood vessels, Optic disc... ORPHA:468631
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Hyperactivity, Impulsivity, Emotional lability OMIM:610217
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia OMIM:609069
Stromme Syndrome
Retinal vascular tortuosity, Optic nerve hypoplasia, Microphthalmia OMIM:243605
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Hyperactivity ORPHA:457284
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia, Anxiety OMIM:617506
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Optic nerve hypoplasia ORPHA:221139
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Optic nerve hypoplasia, Abnormal optic disc morphology, Microphthalmia, Facial ... ORPHA:508498
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:495875
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability OMIM:620047
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Anophthalmia OMIM:605627
Spondylodysplastic Ehlers-Danlos Syndrome
Optic nerve hypoplasia, Optic disc coloboma ORPHA:536471
Hydranencephaly
Chorioretinal atrophy, Optic nerve hypoplasia ORPHA:2177
Histidinemia
Hyperactivity ORPHA:2157
Marshall-Smith Syndrome
Optic nerve hypoplasia OMIM:602535
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Abnormality of the optic nerve ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Abnormality of the optic nerve ORPHA:352665
Tuberous Sclerosis Complex
Retinal hamartoma, Self-injurious behavior, Impulsivity, Hyperactivity, Carcinoid tumor, Depressi... ORPHA:805
Holoprosencephaly 13, X-Linked
Optic nerve hypoplasia, Septo-optic dysplasia OMIM:301043
Phace Syndrome
Optic nerve hypoplasia, Retinal vascular malformation, Lens coloboma, Microphthalmia ORPHA:42775
Rhombencephalosynapsis
Aganglionic megacolon, Septo-optic dysplasia ORPHA:59315
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Optic nerve hypoplasia, Retinal dystrophy OMIM:619321
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Optic disc coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:141099
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Choreoacanthocytosis
Apathy, Head-banging, Self-injurious behavior, Irritability, Abnormal autonomic nervous system ph... ORPHA:2388
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia ORPHA:95496
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Optic nerve hypoplasia ORPHA:226307
Diaphragmatic Hernia 4, With Cardiovascular Defects
Optic nerve hypoplasia OMIM:620025
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia ORPHA:500150
Chilton-Okur-Chung Neurodevelopmental Syndrome
Self-injurious behavior, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, ... OMIM:619841
8Q24.3 Microdeletion Syndrome
Hyperactivity, Retinal coloboma, Optic nerve hypoplasia, Bilateral microphthalmos, Low frustratio... ORPHA:508488
Combined Pituitary Hormone Deficiencies, Genetic Forms
Optic nerve hypoplasia, Septo-optic dysplasia ORPHA:95494
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
Dsc3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dsc3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dsc3tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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