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
decreased fasting circulating glucose level Dsc3tm1b(EUCOMM)Wtsi HET Early adult 1.81×10-11
decreased thigmotaxis Dsc3tm1b(EUCOMM)Wtsi HET Early adult 3.81×10-05
abnormal behavior Dsc3tm1b(EUCOMM)Wtsi HET Early adult 3.81×10-05
absent optic nerve Dsc3tm1b(EUCOMM)Wtsi HET Early adult 0.00
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
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  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 0.0%
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.

Adult LacZ

LacZ Images Wholemount

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

MicroCT E18.5

Embryo reconstruction

3 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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... 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 Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Cognitive Impairment With Or Without Cerebellar Ataxia
Severe temper tantrums, Optic nerve hypoplasia, Attention deficit hyperactivity disorder OMIM:614306
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior ORPHA:75858
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia ORPHA:65288
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Chromosome 19P13.13 Deletion Syndrome
Self-injurious behavior, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Hyperactivity, Optic atrophy OMIM:274270
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... ORPHA:447788
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Optic Atrophy-Intellectual Disability Syndrome
Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Att... ORPHA:401777
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Optic Atrophy 11
Hyperactivity, Optic nerve hypoplasia, Optic atrophy, Facial diplegia, Stereotypical body rocking... OMIM:617302
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Optic nerve hypoplasia, Tics, Inappropriate laughter, Low frustration tolerance, O... ORPHA:363686
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia ORPHA:572013
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors 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
Microphthalmia, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Nabais Sa-De Vries Syndrome, Type 1
Self-injurious behavior, Optic nerve hypoplasia OMIM:618828
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Attention deficit hyperactivity disorder OMIM:617914
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
D-Glyceric Aciduria
Tongue thrusting, Hypoglycemia, Optic nerve hypoplasia OMIM:220120
White-Sutton Syndrome
Hyperactivity, Optic nerve hypoplasia, Aggressive behavior, Hypoglycemic seizures, Self-injurious... OMIM:616364
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Septo-Optic Dysplasia Spectrum
Polydipsia, Optic nerve hypoplasia, Maternal diabetes, Septo-optic dysplasia ORPHA:3157
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... OMIM:617600
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia, Dysphagia OMIM:615033
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia ORPHA:496790
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Irritability, Self-injurious b... ORPHA:449291
Aniridia 1
Hypoplasia of the fovea, Optic nerve hypoplasia, Increased proinsulin:insulin ratio, Hypoplasia o... OMIM:106210
Bresek Syndrome
Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia ORPHA:85284
Squalene Synthase Deficiency
Irritability, Optic nerve hypoplasia OMIM:618156
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Retinal detachment, Optic atrophy, Optic nerve hypoplasia ORPHA:370959
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia OMIM:618736
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620157
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia 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
19P13.13 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Attention deficit hyperactivity disorder ORPHA:357001
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia, Attention deficit hyperactivity disorder OMIM:612513
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Optic nerve hypoplasia OMIM:617864
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
2P15P16.1 Microdeletion Syndrome
Optic nerve hypoplasia, Facial palsy, Optic atrophy, Attention deficit hyperactivity disorder, Dy... ORPHA:261349
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Trichothiodystrophy 5, Nonphotosensitive
Retinal dystrophy, Optic nerve hypoplasia OMIM:300953
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Emotional lability, Abnormal repetitive mannerisms, Abnormal autonomic ne... ORPHA:300570
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia OMIM:615280
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Compulsive behaviors ORPHA:93932
Verheij Syndrome
Optic nerve hypoplasia OMIM:615583
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior ORPHA:309246
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia OMIM:609069
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Dysphagia OMIM:620029
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Optic nerve hypoplasia OMIM:301056
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphtha... OMIM:606519
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Dysphagia ORPHA:261250
Rhizomelic Chondrodysplasia Punctata, Type 2
Optic nerve hypoplasia OMIM:222765
Rabin-Pappas Syndrome
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620155
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Decreased number of small peripheral myelinated nerve fibers, Abnormal autonomic n... OMIM:256800
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Retinal coloboma, Optic nerve hypoplasia OMIM:300749
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp... OMIM:614643
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia, Hypoglycemia ORPHA:95496
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Optic nerve hypoplasia, Bilateral microphthalmos, Self-injurious behavior, Abn... ORPHA:468631
Asparagine Synthetase Deficiency
Irritability, Optic nerve hypoplasia OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia, Mi... OMIM:236670
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal coloboma, Microphth... ORPHA:508498
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling, Polyphagia, Self-injuriou... OMIM:620330
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Optic nerve hypoplasia ORPHA:457284
Stromme Syndrome
Retinal vascular tortuosity, Microphthalmia, Optic nerve hypoplasia 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
Abnormal optic nerve morphology, Optic nerve hypoplasia, Bruxism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal optic nerve morphology, Optic nerve hypoplasia, Bruxism ORPHA:352665
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia OMIM:617506
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:495875
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Spondylodysplastic Ehlers-Danlos Syndrome
Optic disc coloboma, Optic nerve hypoplasia ORPHA:536471
Marshall-Smith Syndrome
Optic nerve hypoplasia OMIM:602535
8Q24.3 Microdeletion Syndrome
Hyperactivity, Optic nerve hypoplasia, Bilateral microphthalmos, Tics, Low frustration tolerance,... ORPHA:508488
Congenital Fibrosis Of Extraocular Muscles
Optic nerve hypoplasia ORPHA:45358
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:3301
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Optic nerve hypoplasia ORPHA:226307
Hydranencephaly
Chorioretinal atrophy, Optic nerve hypoplasia ORPHA:2177
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia OMIM:301043
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma, Retinal vascular malformation ORPHA:42775
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon ORPHA:59315
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia OMIM:619321
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:141099
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Hypoglycemia, Optic nerve hypoplasia ORPHA:95494
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia, Dysphagia ORPHA:500150
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, Septo-optic dysplasia, Attention deficit hyperactivity disorder, Aggress... 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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