Gene Summary

tectonic family member 3
Tect3,  4930521E07Rik

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
anophthalmia Tctn3em1(IMPC)J HOM E18.5 0.00
abnormal embryo size Tctn3em1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Tctn3em1(IMPC)J HOM   Early adult 0.00
abnormal body wall morphology Tctn3em1(IMPC)J HOM E18.5 0.00
polydactyly Tctn3em1(IMPC)J HOM E18.5 0.00

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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.


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

4 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Forepaw

10 Images

Gross Morphology Embryo E18.5


3 Images

Human diseases caused by Tctn3 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 predicted to be associated to Tctn3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Upper limb phocomelia, Polydactyly, Abnormal heart morphology, Syndactyly, Abnormal h... ORPHA:294975
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Tapered finger, Limited elbow extension OMIM:300706
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Hydrocephalus, Congenital, 3, With Brain Anomalies
Polyhydramnios, Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Holoprosencephaly, Spina bifida, Postaxial hand polydactyly, Hydrocephalus ORPHA:945
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Polydactyly, Microphthalmia, Anophthalmia, Talipes equinovarus OMIM:613885
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly OMIM:306990
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Vissers-Bodmer Syndrome
Holoprosencephaly, Tapered finger OMIM:619033
Ring Chromosome 21 Syndrome
Azoospermia, Abnormal heart morphology, Holoprosencephaly, Narrow palm, Clinodactyly, Syndactyly,... ORPHA:1445
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
Bardet-Biedl Syndrome 7
Polydactyly OMIM:615984
Fryns Microphthalmia Syndrome
Neural tube defect, Microphthalmia, Anophthalmia OMIM:600776
Thanatophoric Dysplasia Type 2
Polyhydramnios, Atrial septal defect, Holoprosencephaly, Patent ductus arteriosus, Increased nuch... ORPHA:93274
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Short finger, Tapered finger, Short toe, Brachydactyly OMIM:610680
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Bardet-Biedl Syndrome 22
Polydactyly OMIM:617119
Distal Monosomy 13Q
Holoprosencephaly, Anencephaly, Abnormality of the metacarpal bones, Aplasia/Hypoplasia of the th... ORPHA:1590
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Finger syndactyly, Holoprosencephaly, Spinal d... ORPHA:1908
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Anophthalmia, Abnormality of fibula morphology, Arthralgia o... ORPHA:93323
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Holoprosencephaly, Hydranencephaly, Camptodactyly of finger, Adducted thumb ORPHA:2570
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Short femur, Foot oligodactyly, Ventricular septal defect OMIM:601357
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Adducted thumb, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Bardet-Biedl Syndrome 6
Polydactyly, Syndactyly OMIM:605231
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly, Coxa valga, Short distal phalanx of finger OMIM:601370
Lambotte Syndrome
Semilobar holoprosencephaly, Preaxial foot polydactyly, Ventricular septal defect OMIM:245552
Distal Monosomy 7Q36
Holoprosencephaly, Clinodactyly of the 5th finger, Symphalangism affecting the phalanges of the h... ORPHA:1636
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Omphalocele, Anophthalmia OMIM:248450
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Patent ductus arteriosus, Anencephaly, Bowing of the legs, Patent foramen ovale, ... OMIM:269860
Chromosome 1Q41-Q42 Deletion Syndrome
Talipes equinovarus, Holoprosencephaly OMIM:612530
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Lobar holoprosencephaly ORPHA:2117
Polyhydramnios, Finger syndactyly, Holoprosencephaly, Meningocele, Abnormal cardiac septum morpho... ORPHA:3376
Polydactyly, Holoprosencephaly, Preaxial polydactyly, Postaxial polydactyly, Sandal gap, Ulnar de... OMIM:612651
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Oculocerebrocutaneous Syndrome
Microphthalmia, Congenital hip dislocation, Anophthalmia OMIM:164180
Monosomy 18P
Lymphedema, Holoprosencephaly, Brachydactyly ORPHA:1598
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Orofaciodigital Syndrome Xviii
Genu valgum, Short middle phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short d... OMIM:617927
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Short distal phalanx of finger, Clinodactyly of the 5th finger, Brachydactyly,... ORPHA:2163
Holoprosencephaly 11
Holoprosencephaly OMIM:614226
Holoprosencephaly OMIM:600674
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... ORPHA:65759
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Postaxial foot polydactyly, Microphthalmia, Anophthalmia, Proximal placement o... ORPHA:139471
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia, Deviation of finger ORPHA:1104
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Radial club hand, Abnormality of the radius ORPHA:2165
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Endocardial fibroelastosis, Aplasia of the ulna, Neonatal death, Hand oligodactyly OMIM:276822
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect, H... OMIM:264480
Hydrolethalus Syndrome 2
Postaxial polydactyly, Preaxial polydactyly, Hydrocephalus, Anencephaly OMIM:614120
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Meningocele, Microphthalmia, I... OMIM:603194
Pallister-Hall Syndrome
Oligodactyly, Short 4th metacarpal, Postaxial hand polydactyly, Y-shaped metacarpals, Toe syndact... OMIM:146510
Trisomy 13
Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Bilateral single transverse palmar cr... ORPHA:3378
Mend Syndrome
Overlapping fingers, Overlapping toe, Polydactyly, 2-3 toe syndactyly, Aortic valve stenosis, Hyd... OMIM:300960
Biemond Syndrome Type 2
Preaxial polydactyly, Microphthalmia ORPHA:141333
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Polyhydramnios, Holoprosencephaly, Situs inversus totalis ORPHA:990
Agnathia-Otocephaly Complex
Holoprosencephaly, Situs inversus totalis OMIM:202650
Joubert Syndrome 18
Polydactyly, Camptodactyly, Intrauterine growth retardation OMIM:614815
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Clubbing of fingers, Palmoplantar keratoderma, Cardiomyocyte hypertrophy, Death in adolescence, E... OMIM:605676
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Brachydactyly, Hydro... OMIM:617866
49,Xxxxy Syndrome
Azoospermia, Radioulnar synostosis, Elbow dislocation, Abnormality of epiphysis morphology, Holop... ORPHA:96264
Nevus Comedonicus Syndrome
Spina bifida, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Septooptic Dysplasia
Polydactyly, Optic disc hypoplasia, Short finger, Optic nerve hypoplasia OMIM:182230
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Oligohydramnios, Stillbirth, 2-3 toe syndactyly, Brachydactyly, Neonatal death, Hydranencephaly, ... OMIM:236500
Polyhydramnios, Rocker bottom foot, Spina bifida, Holoprosencephaly, Rhizomelia, Spinal dysraphis... ORPHA:63259
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect ORPHA:77298
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Trisomy 18
Camptodactyly of finger, Spina bifida, Atrial septal defect, Postaxial hand polydactyly, Oligohyd... ORPHA:3380
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Elbow dislocation, Bilateral single transverse palmar creases, Ab... ORPHA:1106
Thanatophoric Dysplasia, Type I
Polyhydramnios, Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Bowing o... OMIM:187600
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Stillbirth, Hypoplastic ilia, Umbilical hernia, Edema, Micromelia OMIM:600972
Trisomy 1Q
Camptodactyly of finger, Preaxial hand polydactyly, Toe syndactyly, Omphalocele, Anophthalmia, Ar... ORPHA:261344
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly OMIM:615433
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Preaxial foot polydactyly... OMIM:277170
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly, Hydrocephalus, Ventricular septal defect OMIM:602501
Postaxial hand polydactyly, Anophthalmia, Microphthalmia, Micromelia ORPHA:2189
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polyda... OMIM:615986
Steinfeld Syndrome
Hypoplasia of the radius, Abnormal heart morphology, Holoprosencephaly, Hypoplasia of the ulna, A... OMIM:184705
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Meckel Syndrome, Type 11
Polydactyly, Oligohydramnios OMIM:615397
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth, Short distal ... OMIM:617102
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Meta... ORPHA:261236
1Q41Q42 Microdeletion Syndrome
Talipes equinovarus, Holoprosencephaly ORPHA:250999
Bardet-Biedl Syndrome 17
Situs inversus totalis, Mesoaxial polydactyly, Polydactyly, Dextrocardia, Brachydactyly OMIM:615994
Holoprosencephaly ORPHA:83463
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Holoprosencephaly, Hypoplasia of the ulna, Foot polydactyly, Aplasia/Hy... ORPHA:3186
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Thanatophoric Dysplasia, Type Ii
Polyhydramnios, Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Neonatal... OMIM:187601
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Neonatal death,... OMIM:228940
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia, Intrauterine growth retardation OMIM:616910
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Microphthalmia, Anophthalmia OMIM:615877
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Short middle phalanx of the 2nd fi... OMIM:617926
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Hiatus hernia, Absent hand, Abnormality of finger, Elbow dislocation, Abnormality o... ORPHA:2538
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Aniridia, Anophthalmia, Umbilical hernia, Inguinal hernia, Ulnar deviati... ORPHA:1101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Holoprosencephaly, Pulmonic stenosis, Dilated cardiomy... OMIM:253800
Smith-Lemli-Opitz Syndrome
Polyhydramnios, Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect, Fing... ORPHA:818
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Holoprosencephaly-Postaxial Polydactyly Syndrome
Polyhydramnios, Postaxial hand polydactyly, Holoprosencephaly, Umbilical hernia, Abnormal cardiac... ORPHA:2166
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Umbilical hernia, Perimembranous ventricular septal defect, Death in... OMIM:618651
Meckel Syndrome, Type 3
Polydactyly, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly OMIM:607361
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:2470
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Postaxial polydactyly, Hydrocephalus, Ventricular septal defect OMIM:219730
Nephronophthisis 15
Polydactyly OMIM:614845
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Hypoplasia of the ulna, Single transverse... OMIM:227270
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Arthrogryposis Multiplex Congenita 6
Polyhydramnios, Death in infancy, Neonatal death, Death in childhood, Adducted thumb OMIM:619334
Short Rib-Polydactyly Syndrome
Polyhydramnios, Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Incr... ORPHA:1505
Mosaic Variegated Aneuploidy Syndrome
Polyhydramnios, Atrial septal defect, Holoprosencephaly, Increased nuchal translucency, Ascites, ... ORPHA:1052
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Postaxial polydactyly, Double outlet ... OMIM:217095
14Q22Q23 Microdeletion Syndrome
Short 4th metacarpal, Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Anophthalmia, Bila... ORPHA:264200
Smith-Lemli-Opitz Syndrome
Short toe, Atrial septal defect, Postaxial hand polydactyly, Hip subluxation, Overlapping toe, Ve... OMIM:270400
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Inguinal hernia, Syndactyly, Intrauterine growth retardation, Small placenta, Clinod... ORPHA:397590
Solitary Median Maxillary Central Incisor
Holoprosencephaly OMIM:147250
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Short long bone, Brachydactyly, Postaxial polydactyly OMIM:615633
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Stillbirth, Broad long bones, Hypoplastic iliac wing, Short long... OMIM:200610
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydacty... OMIM:614091
Jacobsen Syndrome
Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Clinodactyly of the 5th finge... OMIM:147791
Hand polydactyly, Congenital finger flexion contractures, Syndactyly, Short toe, Brachydactyly OMIM:114150
Vacterl With Hydrocephalus
Hypoplasia of the radius, Spina bifida, Inguinal hernia, Microphthalmia, Anophthalmia, Intrauteri... ORPHA:3412
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Hand polydactyly, Branchial anomaly, Ventricular septal defect, Holoprosencephaly, Spinal dysraph... ORPHA:2162
Isolated Exencephaly
Polyhydramnios, Holoprosencephaly ORPHA:563612
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Atrial septal defect, Preaxial polydactyly, Postaxial polydactyl... OMIM:616546
Holoprosencephaly 4
Semilobar holoprosencephaly OMIM:142946
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Joubert Syndrome 23
Polydactyly OMIM:616490
Microform Holoprosencephaly
Holoprosencephaly, Tetralogy of Fallot ORPHA:280200
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
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Clinodactyly of the 5th finger, Upper limb asymmetry ORPHA:231140
Focal Dermal Hypoplasia
Aniridia, Short metatarsal, Congenital hip dislocation, Short phalanx of finger, Split hand, Omph... OMIM:305600
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Atrial septal defect, Ventricular septal defect, Preaxial polydactyly, Paten... OMIM:618142
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Holoprosencephaly, Aplasia/Hypoplasia of the phalanges of the thumb ORPHA:556955
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Monosomy 13Q14
Finger syndactyly, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Clinodactyly of the 5th fi... ORPHA:1587
Meckel Syndrome
Postaxial hand polydactyly, Situs inversus totalis, Preaxial hand polydactyly, Oligohydramnios, B... ORPHA:564
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Bardet-Biedl Syndrome 8
Polydactyly, Situs inversus totalis OMIM:615985
Pallister-Hall Syndrome
Broad thumb, Patent ductus arteriosus, Supernumerary metacarpal bones, 3-4 finger cutaneous synda... ORPHA:672
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia, Metatarsus valgus ORPHA:899
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Omphalocele, Syndactyly, Brach... OMIM:617895
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Brachydactyly OMIM:613819
Microgastria-Limb Reduction Defects Association
Hypoplasia of the radius, Anophthalmia, Hypoplasia of the ulna, Hand oligodactyly, Phocomelia, Ab... OMIM:156810
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Ventricular septal defect, Po... OMIM:169400
Meckel Syndrome, Type 10
Postaxial polydactyly, Anencephaly OMIM:614175
Au-Kline Syndrome
Hip dysplasia, Deep palmar crease, Postaxial polydactyly, Overlapping toe OMIM:616580
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Polyhydramnios, Ventricular septal defect, Preaxial polydactyly, Postaxial polydactyly, Short lon... OMIM:615503
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Hip dysplasia, Atrial septal defect, Ventricular septal defect, Patent ductus arte... OMIM:614576
Joubert Syndrome 17
Polydactyly, Syndactyly OMIM:614615
Congenital Sialidosis Type 2
Abnormal heart morphology, Polydactyly, Umbilical hernia, Edema, Ascites, Hydrocephalus ORPHA:93400
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Ventricular septal defect, Patent ductus arteriosus, Alobar holopros... OMIM:301043
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Intrauterine growth retardation, Postaxial polydactyly OMIM:615824
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Fibular aplasia, Tarsal synostosis, Flared iliac wing, Abn... ORPHA:90652
Atelosteogenesis, Type I
Polyhydramnios, Club-shaped proximal femur, Radial bowing, Short femur, Short metatarsal, Stillbi... OMIM:108720
Epidermolysis Bullosa, Lethal Acantholytic
Mitten deformity, Widely spaced toes, Sandal gap, Neonatal death, Syndactyly, Tapered distal phal... OMIM:609638
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:206900
3P25.3 Microdeletion Syndrome
2-3 finger syndactyly, Broad thumb, Overlapping toe, Postaxial polydactyly, Acromesomelia, Microp... ORPHA:435638
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Atrial septal defect, Hydrocephalus, Ventricular septal defect OMIM:603387
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Inguinal hernia, Bilateral microphthalmos, Anophthalmia OMIM:601186
Joubert Syndrome 16
Polydactyly OMIM:614465
Joubert Syndrome 15
Polydactyly OMIM:614464
Acromelic Frontonasal Dysostosis
Polydactyly, Talipes equinovarus, Preaxial polydactyly, Syndactyly OMIM:603671
Charge Syndrome
Polyhydramnios, Abnormality of tibia morphology, Holoprosencephaly, Patent ductus arteriosus, Abn... ORPHA:138
Bardet-Biedl Syndrome 3
Brachydactyly, Postaxial polydactyly OMIM:600151
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Mullegama-Klein-Martinez Syndrome
Polydactyly, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Hypoplastic left... OMIM:301022
Duane-Radial Ray Syndrome
Small thenar eminence, Radial deviation of the hand, Hypoplasia of the radius, Optic disc hypopla... OMIM:607323
Charge Syndrome
Abnormal palmar dermatoglyphics, Atrial septal defect, Hand polydactyly, Ventricular septal defec... OMIM:214800
20P13 Microdeletion Syndrome
Polydactyly, Clinodactyly, Brachydactyly, Finger syndactyly ORPHA:313781
Cardioacrofacial Dysplasia 1
Genu valgum, Complete atrioventricular canal defect, Postaxial polydactyly, Limb undergrowth, Atr... OMIM:619142
Chondrodysplasia Punctata 2, X-Linked Dominant
Epiphyseal stippling, Polydactyly, Hemiatrophy, Postaxial polydactyly, Tarsal stippling, Micropht... OMIM:302960
Short phalanx of finger, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, H... ORPHA:59315
Orofaciodigital Syndrome Xiv
Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Preaxial polydactyly, Patent ... OMIM:615948
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia OMIM:605627
Mental Retardation, Autosomal Dominant 23
Broad distal phalanx of finger, Postaxial polydactyly, Sandal gap OMIM:615761
Ring Chromosome 7 Syndrome
3-4 toe syndactyly, Genu valgum, Short 5th finger, Situs inversus totalis, Holoprosencephaly, Sma... ORPHA:1449
Chromosome 3Pter-P25 Deletion Syndrome
Macular hypoplasia, Tapered finger, Postaxial polydactyly OMIM:613792
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
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Microphthalmia, Anophthalmia ORPHA:2250
Tarp Syndrome
Deep palmar crease, Hypoplasia of the radius, Short sternum, Postaxial polydactyly, Intrauterine ... OMIM:311900
Holoprosencephaly 7
Semilobar holoprosencephaly, Hydrocephalus, Alobar holoprosencephaly OMIM:610828
Aprosencephaly Syndrome
Hand oligodactyly, Aprosencephaly, Anencephaly OMIM:207770
Joubert Syndrome 32
Postaxial polydactyly, Hypertrophic cardiomyopathy OMIM:617757
Hartsfield Syndrome
Syndactyly, Ectrodactyly, Lobar holoprosencephaly OMIM:615465
Holoprosencephaly 3
Holoprosencephaly OMIM:142945
Holoprosencephaly 9
Holoprosencephaly, Postaxial hand polydactyly, Hydrocephalus OMIM:610829
Holoprosencephaly 2
Holoprosencephaly, Single ventricle OMIM:157170
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Semilobar holoprosencephaly, Hip dysplasia, Atrial septal defect, 1-2 toe syndactyly, Ventricular... OMIM:301044
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Joubert Syndrome 14
Postaxial polydactyly, Hydrocephalus OMIM:614424
Microphthalmia, Syndromic 2
Radioulnar synostosis, 2-3 toe syndactyly, Umbilical hernia, Sandal gap, 2-3 toe cutaneous syndac... OMIM:300166
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Camptodactyly of finger, 4-5 finger syndactyly, 2-5 finger syndactyly, Lobar holoprosencephaly ORPHA:468631
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Joubert Syndrome 7
Postaxial hand polydactyly, Postaxial polydactyly OMIM:611560
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Short 4... OMIM:109400
Genitourinary And/Or Brain Malformation Syndrome
Holoprosencephaly, Syndactyly OMIM:618820
Orofaciodigital Syndrome I
Abnormal heart morphology, Polydactyly, Brachydactyly, Radial deviation of finger, Clinodactyly, ... OMIM:311200
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Microphthalmia, Syndromic 6
Flexion contracture of thumb, Preaxial hand polydactyly, Toe syndactyly, Finger syndactyly, Polyd... OMIM:607932
Hemifacial Microsomia
Microphthalmia, Branchial anomaly, Anophthalmia OMIM:164210
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Hypoplastic pelvis, Rhizomelia, Preaxial polydactyly, Postaxial polydactyly,... OMIM:616300
Nephronophthisis 13
Polydactyly OMIM:614377
9Q21.13 Microdeletion Syndrome
Polydactyly, Hip dysplasia, Abnormal heart morphology ORPHA:531151
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Omphalocele, Umbilical hernia, Wide pubic symphysis, Microphth... ORPHA:2052
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydactyly, Microphthalmia, Postax... ORPHA:404440
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Semilobar holoprosencephaly, Hand polydactyly, Toe syndactyly, Split hand, Xerostomia, Split foot OMIM:129900
Fraser Syndrome 1
Bilateral microphthalmos, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the thumb, Wide pubi... OMIM:219000
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Holoprosencephaly, Abnormal digit morphology ORPHA:95494
Pseudoaminopterin Syndrome
Clubbing of fingers, Short 4th metacarpal, Hip subluxation, Overlapping toe, Synostosis of carpal... ORPHA:221120
Miller-Dieker Lissencephaly Syndrome
Deep palmar crease, Polydactyly, Camptodactyly, Omphalocele, Inguinal hernia, Joint contracture o... OMIM:247200
Joubert Syndrome 21
Anophthalmia OMIM:615636
Orofaciodigital Syndrome Type 6
Hand polydactyly, Central Y-shaped metacarpal, Finger clinodactyly, Abnormal heart morphology, Me... ORPHA:2754
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ... OMIM:617925
Branchiooculofacial Syndrome
Preaxial hand polydactyly, Branchial anomaly, Clinodactyly of the 5th finger, Microphthalmia, Sho... OMIM:113620
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Proximal femoral metaphyseal irregularity, Cone-shaped epiphysis, Postaxial polydactyly, Rhizomel... ORPHA:397715
Meier-Gorlin Syndrome 7
Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal defect, Preaxial... OMIM:617063
Adnp Syndrome
Abnormality of toe, Broad thumb, Abnormality of finger, Polydactyly, 2-3 toe syndactyly, Umbilica... ORPHA:404448
Stromme Syndrome
Preaxial polydactyly, Hydrocephalus, Stillbirth OMIM:243605
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Cranioectodermal Dysplasia 2
Polyhydramnios, Hydrops fetalis, Atrial septal defect, Postaxial hand polydactyly, Polydactyly, R... OMIM:613610
Holoprosencephaly 1
Single ventricle, Alobar holoprosencephaly, Ethmocephaly OMIM:236100
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hip dysplasia, Atrial septal defect, Patent ductus arteriosus, Postaxial polydactyly, Small hand,... OMIM:300968
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Monosomy 9Q22.3
Cardiac fibroma, Polydactyly, Palmar pits, Umbilical hernia, Hydrocephalus ORPHA:77301
Tarp Syndrome
Rocker bottom foot, Hand polydactyly, Finger syndactyly, Short sternum, Postaxial polydactyly, Cl... ORPHA:2886
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Oligohydramnios, Ventricular septal defect, Polydactyly, Patent ductus arteriosus... ORPHA:464306
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Abnormal heart morphology ORPHA:314655
Carpenter Syndrome 2
Atrial septal defect, Situs inversus totalis, Broad thumb, Camptodactyly, Preaxial polydactyly, P... OMIM:614976
Microphthalmia, Syndromic 1
Abnormal palmar dermatoglyphics, Camptodactyly, Down-sloping shoulders, Anophthalmia, Radial devi... OMIM:309800
Vater/Vacterl Association
Spina bifida, Hypoplasia of the radius, Radioulnar synostosis, Ventricular septal defect, Preaxia... OMIM:192350
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Two carpal ossification centers present at birth, Flared iliac wing, Short greater s... OMIM:312870
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hip dysplasia, Postaxial polydactyly, Broad hallux, Inguinal hernia, Optic nerve hypoplasia, Clin... ORPHA:457284
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Palmoplantar hyperhidrosis, Postaxial polydactyly, Edema, Single transverse p... OMIM:617527
Khan-Khan-Katsanis Syndrome
Intrauterine growth retardation, Buphthalmos, Clinodactyly, Postaxial polydactyly OMIM:618460
Loeys-Dietz Syndrome 2
Talipes equinovarus, Atrial septal defect, Protrusio acetabuli, Camptodactyly, Patent ductus arte... OMIM:610168
Cranioectodermal Dysplasia 3
Syndactyly, Brachydactyly, Postaxial polydactyly, Sandal gap OMIM:614099
Rubinstein-Taybi Syndrome 1
Polyhydramnios, Dislocated radial head, Atrial septal defect, Broad thumb, Ventricular septal def... OMIM:180849
Choanal Atresia
Polydactyly ORPHA:137914
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
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
Kinsship Syndrome
Dislocated radial head, Polydactyly, Death in infancy, Mesomelia, Fibular hypoplasia, Hip disloca... OMIM:619297
Rabson-Mendenhall Syndrome
Polydactyly, Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:769
Aprosencephaly And Cerebellar Dysgenesis
Talipes equinovarus, Aprosencephaly OMIM:601374
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Polyhydramnios, Hip dysplasia, Broad distal phalanx of finger, Atrial septal defect, Abnormal pro... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Polyhydramnios, Hip dysplasia, Broad distal phalanx of finger, Atrial septal defect, Abnormal pro... ORPHA:353277
3Mc Syndrome 3
Clinodactyly, Preaxial polydactyly, Radioulnar synostosis OMIM:248340
Okamoto Syndrome
Hip dysplasia, Oligohydramnios, Ventricular septal defect, Abnormal mitral valve morphology, Abno... ORPHA:2729
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Faciocardiomelic Syndrome
Polydactyly, Slender long bone, Common atrium, Hypoplastic pelvis OMIM:612731
Lacrimoauriculodentodigital Syndrome
Small thenar eminence, 2-3 finger syndactyly, Hypoplasia of the radius, Absent proximal phalanx o... OMIM:149730
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
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydactyly, Finger syndactyly... ORPHA:2753


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 Tctn3

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 Tctn3.

No publications found that use IMPC mice or data for Tctn3.

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MGI Allele Allele Type Produced
Tctn3em1(IMPC)J Exon Deletion Mice
Tctn3tm47188(L1L2_Bact_P) Targeting vectors

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