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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
abnormal behavior Dsc3tm1b(EUCOMM)Wtsi HET Early adult 3.85×10-05
preweaning lethality, complete penetrance Dsc3tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased thigmotaxis Dsc3tm1b(EUCOMM)Wtsi HET Early adult 7.72×10-05
decreased fasting circulating glucose level Dsc3tm1b(EUCOMM)Wtsi HET Early adult 1.81×10-11
absent optic nerve Dsc3tm1b(EUCOMM)Wtsi HET 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
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 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 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 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)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 100% (2 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)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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.

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

3 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View images
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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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
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Morm Syndrome
Aggressive behavior, Retinal atrophy, Hyperactivity, Retinal dystrophy ORPHA:75858
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Cognitive Impairment With Or Without Cerebellar Ataxia
Severe temper tantrums, Attention deficit hyperactivity disorder, Optic nerve hypoplasia OMIM:614306
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619470
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Optic nerve hypoplasia OMIM:620502
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Microphthalmia, Syndromic 3
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:206900
Microphthalmia, Isolated 8
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... OMIM:615113
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Chromosome 19P13.13 Deletion Syndrome
Self-injurious behavior, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia ORPHA:65288
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Cerebral Visual Impairment
Optic atrophy, Attention deficit hyperactivity disorder, Increased cup-to-disc ratio, Retinopathy... ORPHA:447788
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic disc hypoplasia, Attention deficit hyperactivity disorder, Repetitive compul... ORPHA:401777
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Optic nerve hypoplasia ORPHA:228384
Optic Atrophy 11
Optic atrophy, Cherry red spot of the macula, Stereotypical body rocking, Facial diplegia, Attent... OMIM:617302
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Hyperlysinemia, Type I
Hyperactivity, Optic nerve hypoplasia OMIM:238700
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Inappropriate laughter, Obsessive-compulsive trait, Self-mutilation, Low frustration tolerance, H... ORPHA:363686
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Dysphagia, Optic nerve hypoplasia ORPHA:572013
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Microphthalmia OMIM:615181
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Chorioretinal coloboma, Optic nerve hypoplasia ORPHA:163937
Nabais Sa-De Vries Syndrome, Type 1
Self-injurious behavior, Optic nerve hypoplasia OMIM:618828
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation OMIM:615516
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Microcephaly 20, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
White-Sutton Syndrome
Self-injurious behavior, Overfriendliness, Irritability, Aggressive behavior, Hyperactivity, Rod-... OMIM:616364
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Polydipsia, Maternal diabetes, Optic nerve hypoplasia ORPHA:3157
D-Glyceric Aciduria
Tongue thrusting, Hypoglycemia, Optic nerve hypoplasia OMIM:220120
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Hypoglycemia, Optic nerve hypoplasia OMIM:620609
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypogl... OMIM:617600
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia ORPHA:496790
Spastic Paraplegia 54, Autosomal Recessive
Dysphagia, Optic nerve hypoplasia OMIM:615033
Aniridia 1
Chorioretinal hypopigmentation, Increased proinsulin:insulin ratio, Retinal vascular tortuosity, ... OMIM:106210
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Irritabil... ORPHA:449291
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Optic nerve hypoplasia, Retinal detachment, Microphthalmia ORPHA:370959
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620157
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia OMIM:618736
Squalene Synthase Deficiency
Irritability, Optic nerve hypoplasia OMIM:618156
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Optic nerve hypoplasia OMIM:618381
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Optic nerve hypoplasia OMIM:617864
19P13.13 Microdeletion Syndrome
Optic atrophy, Attention deficit hyperactivity disorder, Optic nerve hypoplasia ORPHA:357001
Chromosome 2P16.1-P15 Deletion Syndrome
Attention deficit hyperactivity disorder, Optic nerve hypoplasia OMIM:612513
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Attention deficit hyperactivity disorder, Facial palsy, Dysphagia, Optic nerve hyp... ORPHA:261349
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Restless legs, Absent brainstem auditory responses, Decrease... ORPHA:101085
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Retinal dystrophy, Microphthalmia OMIM:610125
Trichothiodystrophy 5, Nonphotosensitive
Retinal dystrophy, Optic nerve hypoplasia OMIM:300953
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Motor stereotypy, Emotional lability, Abnormal autonomic nervous system physiology, Optic nerve h... ORPHA:300570
Fg Syndrome Type 1
Compulsive behaviors, Attention deficit hyperactivity disorder, Optic nerve hypoplasia ORPHA:93932
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia OMIM:615280
Verheij Syndrome
Optic nerve hypoplasia OMIM:615583
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cherry red spot of the macula ORPHA:309246
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia OMIM:609069
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Optic nerve hypoplasia OMIM:301056
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Attention deficit hyperactivity disorder, Dysphagia, Optic nerve hypoplasia OMIM:620029
Phace Association
Optic atrophy, Increased retinal vascularity, Horner syndrome, Microphthalmia, Optic nerve hypopl... OMIM:606519
16Q24.3 Microdeletion Syndrome
Dysphagia, Optic nerve hypoplasia ORPHA:261250
Rabin-Pappas Syndrome
Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620155
Rhizomelic Chondrodysplasia Punctata, Type 2
Optic nerve hypoplasia OMIM:222765
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Emotional lability, Self-mutilation, Hyperact... OMIM:256800
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Optic nerve hypoplasia, Retinal coloboma OMIM:300749
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia, Retinal dysplasia, O... OMIM:614643
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia, Hypoglycemia ORPHA:95496
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Bilateral microphthalmos, Attenuation of retinal blood vessels, Optic di... ORPHA:468631
Asparagine Synthetase Deficiency
Irritability, Optic nerve hypoplasia OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal atrophy, Retinal detachment, Microphthalmia, Retinal dysplasia, Optic nerv... OMIM:236670
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Emotional lability, Hair-pulling, Polyphagia, Attenti... OMIM:620330
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Abnormal optic disc morphology, Microphthalmia, Facial palsy, Motor stereotypy,... ORPHA:508498
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Optic nerve hypoplasia ORPHA:457284
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Glucose intolerance, Abnormal fear-induced behavior, Impaired glucose tolerance OMIM:219090
Stromme Syndrome
Optic nerve hypoplasia, Retinal vascular tortuosity, Microphthalmia OMIM:243605
Histidinemia
Hyperactivity ORPHA:2157
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Optic nerve hypoplasia ORPHA:221139
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bruxism, Abnormal optic nerve morphology, Optic nerve hypoplasia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bruxism, Abnormal optic nerve morphology, Optic nerve hypoplasia ORPHA:352665
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia OMIM:617506
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Head-banging, Attention deficit hyperactivity disorder, Dysphagia, Impulsivity, Optic nerve hypop... OMIM:620455
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Optic nerve hypoplasia ORPHA:495875
Spondylodysplastic Ehlers-Danlos Syndrome
Optic disc coloboma, Optic nerve hypoplasia ORPHA:536471
Marshall-Smith Syndrome
Optic nerve hypoplasia OMIM:602535
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Retinal coloboma, Low frustration tolerance, Hyperactivity, Tics, Dysph... ORPHA:508488
Congenital Fibrosis Of Extraocular Muscles
Optic nerve hypoplasia ORPHA:45358
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Optic nerve hypoplasia ORPHA:226307
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Hydranencephaly
Chorioretinal atrophy, Optic nerve hypoplasia ORPHA:2177
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia OMIM:301043
Phace Syndrome
Retinal vascular malformation, Lens coloboma, Optic nerve hypoplasia, Microphthalmia ORPHA:42775
Rhombencephalosynapsis
Aganglionic megacolon, Septo-optic dysplasia ORPHA:59315
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Hypoglycemia, Optic nerve hypoplasia ORPHA:95494
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia OMIM:619321
Proboscis Lateralis
Optic disc coloboma, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Optic nerve hypoplasia ORPHA:141099
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Dysphagia, Optic nerve hypoplasia ORPHA:500150
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Baller-Gerold Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:218600
Diaphragmatic Hernia 4, With Cardiovascular Defects
Optic nerve hypoplasia OMIM:620025
Chilton-Okur-Chung Neurodevelopmental Syndrome
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Septo-opt... OMIM:619841
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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
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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