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Gene: Map3k20 MGI:2443258

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Gene Summary

Name:
mitogen-activated protein kinase kinase kinase 20
Synonyms:
Zak,  MLTKalpha,  B230120H23Rik,  MLTKbeta

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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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.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Forepaw

9 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Map3k20 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 Map3k20 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Congenital Fiber-Type Disproportion Myopathy
Congenital hip dislocation, Shoulder girdle muscle weakness, Elbow flexion contracture, Hip contr... ORPHA:2020
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
OMIM:617760

The table below shows human diseases predicted to be associated to Map3k20 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Upington Disease
Flat capital femoral epiphysis, Arthralgia of the hip, Broad femoral neck, Premature epimetaphyse... ORPHA:3408
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger OMIM:259270
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... ORPHA:1891
Upington Disease
Arthralgia of the hip, Broad femoral neck, Flattened femoral head OMIM:191520
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... ORPHA:2779
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial polydactyly type A, Postaxial hand polydactyly OMIM:618498
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Genu valgum, Acetabular dysplasia, Talipes equinovarus, Hip dysplasia, Coxa valga OMIM:613618
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Coxopodopatellar Syndrome
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal epiphysis morphology, Aplasia/Hyp... ORPHA:1509
Distal Arthrogryposis Type 1
Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin... ORPHA:1146
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... OMIM:250460
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Short 2nd toe, Short thumb, Postaxial hand polydactyly OMIM:176305
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly ORPHA:294975
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Beukes Hip Dysplasia
Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi... OMIM:142669
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication
Talipes equinovarus, Hip dysplasia ORPHA:238578
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Ectrodactyly-Polydactyly
Split hand, Split foot, Postaxial hand polydactyly OMIM:225290
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ... OMIM:611263
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Auriculoosteodysplasia
Dislocated radial head, Hip dysplasia OMIM:109000
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Hammertoe, Hip dislocation, Hip dysplasia ORPHA:370943
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ... OMIM:609324
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... OMIM:226900
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Bow... ORPHA:1802
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly OMIM:615984
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development
Short greater sciatic notch, Coxa valga OMIM:271620
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... ORPHA:2639
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly ORPHA:2091
Acromesomelic Dysplasia, Hunter-Thompson Type
Abnormal pelvic girdle bone morphology, Hip dislocation, Short thumb, Elbow dislocation, Bilatera... ORPHA:968
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... OMIM:610797
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Osteopetrosis, Autosomal Recessive 6
Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, Dense metaphyseal... OMIM:611497
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metacarpal morphology, Brachydactyly, Hip dyspla... ORPHA:2370
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Bowing ... ORPHA:429
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty... ORPHA:65759
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... ORPHA:1350
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... OMIM:619598
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:2631
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul... ORPHA:174
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Ulna Metaphyseal Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Abnormal morphology of ulna, Abno... ORPHA:1837
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... ORPHA:2928
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Abnormal femur morphology, Micromelia, Hip dislocation ORPHA:1508
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... OMIM:609616
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Camptobrachydactyly
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly OMIM:114150
Nephronophthisis 15
Polydactyly OMIM:614845
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo... OMIM:608728
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Preaxial foot polydactyly OMIM:235750
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... OMIM:617102
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Palmoplantar keratoderma ORPHA:2206
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Foot polydactyly, Postaxial hand polydactyly ORPHA:2155
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Limb undergrowth, Diaphys... ORPHA:1803
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Orofaciodigital Syndrome Xvii
Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd... OMIM:617926
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Atelosteogenesis, Type Ii
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Talipes eq... OMIM:256050
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Joubert Syndrome 23
Polydactyly OMIM:616490
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... OMIM:144750
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Flattened epiphysis, Tapered finger OMIM:607131
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Postaxial polydactyly, Hand polydactyly,... OMIM:258860
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Brachydactyly, Short long bone OMIM:615633
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Laurence-Moon Syndrome
Abnormality of the hand, Polydactyly OMIM:245800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Polydactyly OMIM:616910
Bardet-Biedl Syndrome 19
Postaxial polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly, Mesoaxial hand polydactyly OMIM:615996
Joubert Syndrome 18
Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial polydactyly, Camptodactyly OMIM:614815
Biemond Syndrome Type 2
Preaxial polydactyly ORPHA:141333
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone ORPHA:1506
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han... OMIM:615994
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:607361
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly ORPHA:231140
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Joubert Syndrome 16
Polydactyly OMIM:614465
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly ORPHA:64754
Spondylometaphyseal Dysplasia, Algerian Type
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... OMIM:184253
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... ORPHA:3429
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... OMIM:615503
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... OMIM:614091
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle... OMIM:618022
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:1788
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... OMIM:617866
Joubert Syndrome 27
Polydactyly OMIM:617120
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Syn... OMIM:617895
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Foot polydactyly, Split hand, Phocomelia ORPHA:3004
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly OMIM:602501
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Postaxial polydactyly, Bilateral tali... OMIM:618142
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Osteogenesis Imperfecta, Type V
Hyperextensibility of the finger joints, Limited pronation/supination of forearm, Abnormal pelvic... OMIM:610967
20P13 Microdeletion Syndrome
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly ORPHA:313781
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Postaxial polydactyly, Ulnar deviation of the hand, Postaxial hand po... OMIM:614175
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Clinod... OMIM:619721
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap OMIM:615761
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys... OMIM:123000
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Genu valgum, Limb undergrowth OMIM:619142
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Houge-Janssens Syndrome 2
Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hip dysplasia OMIM:616362
Pelger-Huet Anomaly
Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Polydactyly, Short 4th metaca... OMIM:169400
Meckel Syndrome, Type 2
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly OMIM:603194
Joubert Syndrome 15
Preaxial polydactyly OMIM:614464
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Joubert Syndrome 7
Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly OMIM:611560
Meckel Syndrome, Type 8
Talipes equinovarus, Polydactyly OMIM:613885
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:615989
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Polydactyly, Clinodactyly of the 5th finger, Syndactyly ORPHA:397590
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ... OMIM:307800
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... OMIM:300106
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Polydactyly ORPHA:531151
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, 2-3 finger syndactyly, Congeni... ORPHA:435638
Suleiman-El-Hattab Syndrome
Brachydactyly, Clinodactyly, Single transverse palmar crease, Polydactyly OMIM:618950
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo... OMIM:277170
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... ORPHA:1112
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Broad long bones, Abnormal shoulder morpholog... ORPHA:1422
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Dist... OMIM:146510
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Abnormal pelvic girdle bone morphology OMIM:607634
Chromosome 3Pter-P25 Deletion Syndrome
Postaxial polydactyly, Overlapping toe, Tapered finger OMIM:613792
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... OMIM:607323
Endocrine-Cerebroosteodysplasia
Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Single transverse pa... OMIM:612651
Rhombencephalosynapsis
Complete duplication of thumb phalanx, Short phalanx of finger, Finger syndactyly, Polydactyly ORPHA:59315
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty... ORPHA:90652
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hypoplasia, Postaxial ... OMIM:616300
Cleidocranial Dysplasia
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Genu... ORPHA:1452
Tarp Syndrome
Clinodactyly, Single transverse palmar crease, Postaxial polydactyly, Talipes equinovarus, Short ... OMIM:311900
Osteogenesis Imperfecta, Type Ii
Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Limb undergrowth, Crumpl... OMIM:166210
Osteopetrosis, Autosomal Dominant 2
Abnormal pelvic girdle bone morphology, Fractures of the long bones OMIM:166600
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Broad distal phalanx of finger, Postaxial foot polydactyly, Postaxial polydac... ORPHA:404440
Choanal Atresia
Polydactyly ORPHA:137914
Isolated Epispadias
Abnormal pelvic girdle bone morphology ORPHA:93928
Orofaciodigital Syndrome Type 6
Finger clinodactyly, Preaxial polydactyly, Hand polydactyly, Mesoaxial polydactyly, Brachydactyly... ORPHA:2754
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... OMIM:302960
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Joubert Syndrome 37
Postaxial polydactyly OMIM:619185
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Brachydactyly OMIM:614099
Congenital Disorder Of Glycosylation, Type Iil
Postaxial polydactyly, Hip dysplasia OMIM:614576
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Joubert Syndrome 39
Postaxial polydactyly, Joint contracture of the 5th finger OMIM:619562
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly OMIM:619471
Meckel Syndrome 14
Postaxial foot polydactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polyd... OMIM:619879
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Pos... OMIM:209900
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Small hand, Postaxial polydactyly, Hip dysplasia, Short foot, Hip dislocation, Tapered finger OMIM:300968
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... ORPHA:221120
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Rhizomelic arm shortening, Proximal femoral metaphyseal irregularity, Abno... ORPHA:397715
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Carpal synostosis, Limited elbow ex... OMIM:272460
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly OMIM:603387
Orofaciodigital Syndrome V
Postaxial polydactyly, Postaxial foot polydactyly, Sandal gap, Postaxial hand polydactyly OMIM:174300
Meier-Gorlin Syndrome 1
Joint contracture of the hand, Abnormal pelvic girdle bone morphology, Flat glenoid fossa, Elbow ... OMIM:224690
Adnp Syndrome
Broad thumb, Sandal gap, Broad hallux, Single transverse palmar crease, Polydactyly, 2-3 toe synd... ORPHA:404448
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly OMIM:219730
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Single transverse palmar crease, ... ORPHA:2886
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Polydactyly, Down-sloping shoulders, Short 4th me... OMIM:109400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Fibular hypoplasia, Postaxial polydactyly, Narrow greater scia... OMIM:617925
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Single transverse palmar crease, Polydactyly, Deep palmar crease, ... OMIM:247200
Kinsship Syndrome
Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Coxa valga, Dislocated radial h... OMIM:619297
Congenital Sialidosis Type 2
Polydactyly ORPHA:93400
Mend Syndrome
Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe syndactyly, Long fingers OMIM:300960
Faciocardiomelic Syndrome
Hypoplastic pelvis, Slender long bone, Polydactyly OMIM:612731
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Bowing ... OMIM:210710
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly OMIM:248340
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidrosis, Long fingers,... OMIM:617527
Joubert Syndrome 14
Postaxial polydactyly OMIM:614424
Orofaciodigital Syndrome I
Clinodactyly, Radial deviation of finger, Polydactyly, Brachydactyly, Short 2nd toe, Syndactyly OMIM:311200
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Postaxial polydactyly, Clinodactyly of the 5th finger, Broad hallux, Hip dysplasia ORPHA:457284
Rubinstein-Taybi Syndrome 1
Broad distal phalanx of finger, Broad thumb, Radial deviation of thumb terminal phalanx, Short th... OMIM:180849
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Polydactyly, Arachnodactyly, Hallux valgus, Clinodactyly of the 5th finger, Acrom... ORPHA:464306
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly OMIM:616546
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Helsmoortel-Van Der Aa Syndrome
Small hand, Sandal gap, Prominent fingertip pads, Short 4th toe, Broad hallux, Genu valgum, Polyd... OMIM:615873
Carpenter Syndrome 2
Broad thumb, Preaxial polydactyly, Cutaneous finger syndactyly, Bilateral postaxial polydactyly, ... OMIM:614976
Camurati-Engelmann Disease
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Abnormal diaphysis morp... ORPHA:1328
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Deep palmar crease, Hip dysplasia, Clinodactyly of the 5t... OMIM:616580
Bladder Exstrophy And Epispadias Complex
Abnormal pelvic girdle bone morphology OMIM:600057
Legius Syndrome
Clinodactyly of the 5th finger, Polydactyly ORPHA:137605
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Postaxial polydactyly, Short clavicles, Brachydactyly, Short long bone, Po... OMIM:617088
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Polydactyly, Brachydactyly, Postaxial hand polydactyly, Mesomelia, Synd... OMIM:613610
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short femur, Short humerus, Polydactyly ORPHA:17
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Clinodactyly, Radial deviation of finger, Camptodactyly of finger, Bo... OMIM:249000
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe... OMIM:101400
Monosomy 9Q22.3
Palmar pits, Polydactyly ORPHA:77301
Pallister-Hall Syndrome
Broad thumb, Toe syndactyly, Radial bowing, Supernumerary metacarpal bones, Polydactyly affecting... ORPHA:672
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation... OMIM:149730
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short 5th toe, 2-4 toe cutaneous syndactyly, Polydactyly, Hallux valgus, Abnormal toe morphology,... ORPHA:268261
Rabson-Mendenhall Syndrome
Polydactyly ORPHA:769
Neurocardiofaciodigital Syndrome
Polydactyly, Syndactyly OMIM:619869
Stromme Syndrome
Preaxial polydactyly OMIM:243605
Khan-Khan-Katsanis Syndrome
Postaxial polydactyly, Clinodactyly OMIM:618460
Cerebrooculonasal Syndrome
Postaxial polydactyly, Postaxial hand polydactyly OMIM:605627
Degcags Syndrome
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Polydactyly, Talipes equinov... OMIM:619488
Simpson-Golabi-Behmel Syndrome, Type 1
Short distal phalanx of finger, Broad thumb, Short finger, Short greater sciatic notch, Postaxial... OMIM:312870
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o... ORPHA:353277
Vater/Vacterl Association
Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal thumb, Hypoplasia of the ... OMIM:192350
Microphthalmia, Syndromic 6
Toe syndactyly, Finger syndactyly, Thumb contracture, Single transverse palmar crease, Polydactyl... OMIM:607932
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Absent distal phalanges, Arachnodactyly, Talipes equinovarus, Post... OMIM:610168
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Slender finger, Small hand, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, C... ORPHA:480880
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Postaxial polydactyly, Talipes equinovarus, Hip dysplasia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Postaxial polydactyly, Talipes equinovarus, Hip dysplasia ORPHA:352665
Alstrom Syndrome
Polydactyly OMIM:203800
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Polydactyly OMIM:301022
Charge Syndrome
Bifid femur, Abnormal tibia morphology, Polydactyly, Brachydactyly, Clinodactyly of the 5th finger ORPHA:138
Okamoto Syndrome
Hip dysplasia, Polydactyly ORPHA:2729
Loeys-Dietz Syndrome 1
Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Postaxial hand polydactyly, Camptodac... OMIM:609192
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Postaxial polydactyly, Talipes equin... ORPHA:110
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal digit morphology, Polydactyly ORPHA:95494
Orofaciodigital Syndrome Xiv
Preaxial polydactyly, Broad hallux, Postaxial hand polydactyly OMIM:615948
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad thumb, Polydactyly, Broad first metatarsal, Postaxial polydactyly, Syndactyly OMIM:619534
Congenital Fiber-Type Disproportion Myopathy
Congenital hip dislocation, Shoulder girdle muscle weakness, Elbow flexion contracture, Hip contr... ORPHA:2020
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
OMIM:617760

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 Map3k20

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 Map3k20.

No publications found that use IMPC mice or data for Map3k20.

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
Map3k20em1(IMPC)J Exon Deletion Mice
Map3k20tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Map3k20tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Map3k20tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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