Gene Summary

C2 calcium-dependent domain containing 3

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 C2cd3em1(IMPC)Tcp HOM   Early adult 0.00
embryonic growth retardation C2cd3em1(IMPC)Tcp HOM E9.5 0.00
embryonic lethality prior to tooth bud stage C2cd3em1(IMPC)Tcp HOM   E12.5 0.00
abnormal embryo size C2cd3em1(IMPC)Tcp HOM E9.5 0.00
hyperactivity C2cd3em1(IMPC)Tcp HET Early adult 1.63×10-10

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

101 Images

Eye Morphology

Images Slit Lamp

39 Images

Gross Morphology Embryo E9.5


6 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by C2cd3 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 C2cd3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to C2cd3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder OMIM:245570
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Upper limb phocomelia, Polydactyly, Abnormal heart morphology, Syndactyly, Abnormal h... ORPHA:294975
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Sotos Syndrome 3
Hyperactivity OMIM:617169
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... ORPHA:65759
Nevus Comedonicus Syndrome
Spina bifida, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Ulnar Hemimelia
Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd finger, Aplasia... ORPHA:93320
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Bardet-Biedl Syndrome 7
Polydactyly OMIM:615984
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Bardet-Biedl Syndrome 22
Polydactyly OMIM:617119
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Mend Syndrome
Overlapping fingers, Overlapping toe, Polydactyly, 2-3 toe syndactyly, Aortic valve stenosis, Hyd... OMIM:300960
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Bardet-Biedl Syndrome 6
Polydactyly, Syndactyly OMIM:605231
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Bradykinesia, Oculogyric crisis, Attention deficit hyperactivity disorder, Broad-based ... OMIM:617384
Hydrolethalus Syndrome 2
Postaxial polydactyly, Preaxial polydactyly, Hydrocephalus, Anencephaly OMIM:614120
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Brachydactyly, Hydro... OMIM:617866
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly, Hydrocephalus, Ventricular septal defect OMIM:602501
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele OMIM:603194
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Orofaciodigital Syndrome Xviii
Genu valgum, Short middle phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short d... OMIM:617927
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus ORPHA:141333
Bardet-Biedl Syndrome 17
Situs inversus totalis, Mesoaxial polydactyly, Polydactyly, Dextrocardia, Brachydactyly OMIM:615994
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Joubert Syndrome 18
Polydactyly, Camptodactyly, Ventricular septal defect OMIM:614815
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Short middle phalanx of the 2nd fi... OMIM:617926
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Preaxial foot polydactyly... OMIM:277170
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia, Abnormal heart morphology OMIM:188740
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Ventricular septal defect, Po... OMIM:169400
Meckel Syndrome, Type 11
Polydactyly, Oligohydramnios OMIM:615397
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth, Short distal ... OMIM:617102
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Hyperactivity ORPHA:2157
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Silver-Russell Syndrome Due To A Point Mutation
Oligohydramnios, Polydactyly, Syndactyly, Small placenta, Clinodactyly of the 5th finger, Short 5... ORPHA:397590
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polyda... OMIM:615986
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Preaxial hand polydactyly, Broad thumb, Exencephaly, Finger syndactyly, Broad hallux phalanx ORPHA:2211
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Postaxial polydactyly, Double outlet ... OMIM:217095
Meckel Syndrome, Type 3
Polydactyly, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly OMIM:607361
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly, Neural tube defect OMIM:119580
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Short Rib-Polydactyly Syndrome
Polyhydramnios, Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Incr... ORPHA:1505
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Atrial septal defect, Ventricular septal defect, Preaxial polydactyly, Paten... OMIM:618142
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Fibular aplasia, Tarsal synostosis, Flared iliac wing, Abn... ORPHA:90652
Bardet-Biedl Syndrome 8
Polydactyly, Situs inversus totalis OMIM:615985
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Polydactyly, Holoprosencephaly, Preaxial polydactyly, Postaxial polydactyly, Sandal gap, Ulnar de... OMIM:612651
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydacty... OMIM:614091
Congenital Sialidosis Type 2
Abnormal heart morphology, Polydactyly, Umbilical hernia, Edema, Ascites, Hydrocephalus ORPHA:93400
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Postaxial polydactyly, Hydrocephalus, Ventricular septal defect OMIM:219730
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Short long bone, Brachydactyly, Postaxial polydactyly OMIM:615633
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Bifid sternum, Myelomeningocele ORPHA:63260
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Meckel Syndrome, Type 8
Polydactyly, Talipes equinovarus, Postaxial hand polydactyly OMIM:613885
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Atrial septal defect, Preaxial polydactyly, Postaxial polydactyl... OMIM:616546
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Atrial septal defect, Hydrocephalus, Ventricular septal defect OMIM:603387
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Clinodactyly of the 5th finger, Upper limb asymmetry ORPHA:231140
Meckel Syndrome, Type 10
Postaxial polydactyly, Anencephaly OMIM:614175
Duane-Radial Ray Syndrome
Small thenar eminence, Radial deviation of the hand, Hypoplasia of the radius, Atrial septal defe... OMIM:607323
3P25.3 Microdeletion Syndrome
2-3 finger syndactyly, Atrial septal defect, Broad thumb, Overlapping toe, Ventricular septal def... ORPHA:435638
Nephronophthisis 15
Polydactyly OMIM:614845
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Mullegama-Klein-Martinez Syndrome
Polydactyly, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Hypoplastic left... OMIM:301022
Au-Kline Syndrome
Hip dysplasia, Deep palmar crease, Postaxial polydactyly, Overlapping toe OMIM:616580
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia OMIM:616910
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Cardioacrofacial Dysplasia 1
Genu valgum, Complete atrioventricular canal defect, Postaxial polydactyly, Limb undergrowth, Atr... OMIM:619142
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Ventricular septal defect, Hypoplastic ilia, Postaxial polydactyly, Syn... OMIM:617895
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Complete duplication of the 1st metatarsal, Clinodactyly of the 5th finger, Preaxial polydactyly OMIM:129540
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Polyhydramnios, Ventricular septal defect, Preaxial polydactyly, Postaxial polydactyly, Short lon... OMIM:615503
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Gand Syndrome
Hyperactivity OMIM:615074
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Short 4... OMIM:109400
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Hip dysplasia, Atrial septal defect, Ventricular septal defect, Patent ductus arte... OMIM:614576
Orofaciodigital Syndrome I
Abnormal heart morphology, Polydactyly, Brachydactyly, Radial deviation of finger, Clinodactyly, ... OMIM:311200
Acromelic Frontonasal Dysostosis
Polydactyly, Talipes equinovarus, Preaxial polydactyly, Syndactyly OMIM:603671
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Polydactyly, Clinodactyly, Patent foramen ovale,... OMIM:618950
Retinitis Pigmentosa 89
Postaxial polydactyly, Bicuspid aortic valve OMIM:618955
Short phalanx of finger, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, H... ORPHA:59315
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Joubert Syndrome 32
Postaxial polydactyly, Hypertrophic cardiomyopathy OMIM:617757
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect, Tapered finger, Postaxial polydactyly OMIM:613792
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Chondrodysplasia Punctata 2, X-Linked Dominant
Polyhydramnios, Epiphyseal stippling, Polydactyly, Hemiatrophy, Postaxial polydactyly, Tarsal sti... OMIM:302960
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Joubert Syndrome 23
Polydactyly OMIM:616490
20P13 Microdeletion Syndrome
Polydactyly, Clinodactyly, Brachydactyly, Finger syndactyly ORPHA:313781
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
Mental Retardation, Autosomal Dominant 23
Broad distal phalanx of finger, Postaxial polydactyly, Sandal gap OMIM:615761
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Joubert Syndrome 14
Postaxial polydactyly, Hydrocephalus OMIM:614424
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Tarp Syndrome
Deep palmar crease, Hypoplasia of the radius, Short sternum, Postaxial polydactyly, Clinodactyly,... OMIM:311900
Joubert Syndrome 15
Polydactyly OMIM:614464
Joubert Syndrome 16
Polydactyly OMIM:614465
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Gait ataxia, Ataxia, Hyperactivity ORPHA:363400
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
9Q21.13 Microdeletion Syndrome
Polydactyly, Hip dysplasia, Abnormal heart morphology ORPHA:531151
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:1929
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Brachydactyly OMIM:613819
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Bardet-Biedl Syndrome 3
Brachydactyly, Postaxial polydactyly OMIM:600151
Pseudoaminopterin Syndrome
Clubbing of fingers, Short 4th metacarpal, Hip subluxation, Overlapping toe, Synostosis of carpal... ORPHA:221120
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, Ventricular septal defect, Abnormal heart morphology, 2-3 toe syn... ORPHA:404440
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity OMIM:300958
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Fragile X Syndrome
Hyperactivity OMIM:300624
Joubert Syndrome 7
Postaxial hand polydactyly, Postaxial polydactyly OMIM:611560
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Proximal femoral metaphyseal irregularity, Cone-shaped epiphysis, Postaxial polydactyly, Rhizomel... ORPHA:397715
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Monosomy 9Q22.3
Cardiac fibroma, Polydactyly, Palmar pits, Umbilical hernia, Hydrocephalus ORPHA:77301
Orofaciodigital Syndrome Type 6
Hand polydactyly, Central Y-shaped metacarpal, Finger clinodactyly, Abnormal heart morphology, Me... ORPHA:2754
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Joubert Syndrome 17
Polydactyly, Syndactyly OMIM:614615
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Hydromyelia, Lipomyelomeningocele, Hydroc... ORPHA:268810
Vater/Vacterl Association
Spina bifida, Hypoplasia of the radius, Radioulnar synostosis, Ventricular septal defect, Preaxia... OMIM:192350
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Ataxia, Hyperactivity OMIM:614104
Meier-Gorlin Syndrome 7
Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal defect, Preaxial... OMIM:617063
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity ORPHA:369939
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Carpenter Syndrome 2
Atrial septal defect, Situs inversus totalis, Broad thumb, Camptodactyly, Preaxial polydactyly, P... OMIM:614976
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Miller-Dieker Lissencephaly Syndrome
Polyhydramnios, Deep palmar crease, Abnormal heart morphology, Polydactyly, Camptodactyly, Joint ... OMIM:247200
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Adnp Syndrome
Abnormality of toe, Broad thumb, Abnormality of finger, Polydactyly, 2-3 toe syndactyly, Umbilica... ORPHA:404448
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hip dysplasia, Atrial septal defect, Patent ductus arteriosus, Postaxial polydactyly, Small hand,... OMIM:300968
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity ORPHA:530983
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Two carpal ossification centers present at birth, Flared iliac wing, Short greater s... OMIM:312870
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Abnormal heart morphology ORPHA:314655
Loeys-Dietz Syndrome 2
Talipes equinovarus, Atrial septal defect, Protrusio acetabuli, Camptodactyly, Patent ductus arte... OMIM:610168
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
Cranioectodermal Dysplasia 2
Polyhydramnios, Hydrops fetalis, Atrial septal defect, Postaxial hand polydactyly, Polydactyly, R... OMIM:613610
Tarp Syndrome
Rocker bottom foot, Atrial septal defect, Hand polydactyly, Finger syndactyly, Short sternum, Pos... ORPHA:2886
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ... OMIM:617925
Pallister-Hall Syndrome
Broad thumb, Patent ductus arteriosus, Supernumerary metacarpal bones, 3-4 finger cutaneous synda... ORPHA:672
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Oligohydramnios, Ventricular septal defect, Polydactyly, Patent ductus arteriosus... ORPHA:464306
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Nephronophthisis 13
Polydactyly OMIM:614377
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Hypoplastic pelvis, Rhizomelia, Preaxial polydactyly, Patent ductus arterios... OMIM:616300
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Rubinstein-Taybi Syndrome 1
Polyhydramnios, Dislocated radial head, Atrial septal defect, Broad thumb, Ventricular septal def... OMIM:180849
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Gait imbalance, Ataxia, Hyperactivity ORPHA:98794
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hip dysplasia, Postaxial polydactyly, Broad hallux, Clinodactyly of the 5th finger, Hydrocephalus ORPHA:457284
Khan-Khan-Katsanis Syndrome
Abnormal heart morphology, Patent ductus arteriosus, Postaxial polydactyly, Clinodactyly, Patent ... OMIM:618460
Stromme Syndrome
Preaxial polydactyly, Hydrocephalus, Stillbirth OMIM:243605
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hip dysplasia, Atrial septal defect, Branchial anomaly, Abnormal heart morphology, Ventricular se... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hip dysplasia, Atrial septal defect, Branchial anomaly, Abnormal heart morphology, Ventricular se... ORPHA:352665
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Hyperactivity OMIM:103050
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Palmoplantar hyperhidrosis, Postaxial polydactyly, Edema, Single transverse p... OMIM:617527
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity OMIM:300486
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Rabson-Mendenhall Syndrome
Polydactyly, Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:769
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short femur, Polydactyly, Patent ductus arteriosus, Short humerus, Abnormal mitochondrial shape, ... ORPHA:17
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormality of toe, Oligohydramnios, Ventricular septal defect, Abnormal heart morphology, Polyda... ORPHA:268261
Cranioectodermal Dysplasia 3
Syndactyly, Brachydactyly, Postaxial polydactyly, Sandal gap OMIM:614099
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Polyhydramnios, Hip dysplasia, Broad distal phalanx of finger, Atrial septal defect, Abnormal pro... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Polyhydramnios, Hip dysplasia, Broad distal phalanx of finger, Atrial septal defect, Abnormal pro... ORPHA:353284
Orofaciodigital Syndrome Xiv
Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Preaxial polydactyly, Patent ... OMIM:615948
Okamoto Syndrome
Hip dysplasia, Oligohydramnios, Ventricular septal defect, Abnormal mitral valve morphology, Abno... ORPHA:2729
Faciocardiomelic Syndrome
Polydactyly, Slender long bone, Common atrium, Hypoplastic pelvis OMIM:612731
Kinsship Syndrome
Dislocated radial head, Polydactyly, Mesomelia, Fibular hypoplasia, Hip dislocation, Single trans... OMIM:619297
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Choanal Atresia
Polydactyly ORPHA:137914
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
3Mc Syndrome 3
Clinodactyly, Preaxial polydactyly, Radioulnar synostosis OMIM:248340
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hip dysplasia, Atrial septal defect, Congenital hip dislocation, Overlapping toe, Curved fingers,... ORPHA:480880
Spastic gait, Hyperactivity OMIM:207800
Lacrimoauriculodentodigital Syndrome
Small thenar eminence, 2-3 finger syndactyly, Hypoplasia of the radius, Absent proximal phalanx o... OMIM:149730
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Holoprosencephaly, Abnormal digit morphology ORPHA:95494
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Microphthalmia, Syndromic 6
Flexion contracture of thumb, Preaxial hand polydactyly, Toe syndactyly, Finger syndactyly, Polyd... OMIM:607932
Orofaciodigital Syndrome Type 14
Postaxial hand polydactyly, Deviation of the hallux, Ventricular septal defect, Duplication of ph... ORPHA:434179


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 C2cd3

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 C2cd3.

No publications found that use IMPC mice or data for C2cd3.

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MGI Allele Allele Type Produced
C2cd3em1(IMPC)Tcp Exon Deletion Mice
C2cd3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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