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Gene: Donson MGI:1890621

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Gene Summary

Name:
downstream neighbor of SON
Synonyms:
Donson,  1110025J21Rik,  ORF60

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.

Legacy Phenotype Associated Images
Donsontm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Donsontm1a(EUCOMM)Wtsi
head, HET, Male, WTSI
Donsontm1a(EUCOMM)Wtsi
forearm, HET, Male, WTSI
Donsontm1a(EUCOMM)Wtsi
head, HET, Male, WTSI
Donsontm1a(EUCOMM)Wtsi
body, HET, Female, WTSI

View all 157 images

Donsontm1a(EUCOMM)Wtsi
HET, Male, WTSI
Donsontm1a(EUCOMM)Wtsi
HET, Male, WTSI
Donsontm1a(EUCOMM)Wtsi
WT, Male, WTSI
Donsontm1a(EUCOMM)Wtsi
corpus callosum, decreased corpus callosum size, HET, Male, WTSI
Donsontm1a(EUCOMM)Wtsi
HET, Male, WTSI

View all 9 images

Donsontm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Donsontm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Donsontm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Microcephaly, Radioulnar synostosis, Bra... OMIM:617604
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Oligodactyly, M... OMIM:251230

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mosaic Variegated Aneuploidy Syndrome 4
Microcephaly, Abnormality of chromosome stability OMIM:620153
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal, Mesomelia OMIM:611263
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm... OMIM:249710
Congenital Varicella Syndrome
Cerebral cortical atrophy, Micromelia, Microcephaly ORPHA:291
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Short 4th metacarpal, Limb undergrowth, Short 2nd ... OMIM:118651
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Micromelia, Mesomelic/rhizomelic limb shortening, Aplasia/Hypoplasia o... ORPHA:2632
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Microcephaly, Abnormality of chromosome stability OMIM:600546
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Macrocep... OMIM:601356
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Microcephaly, Limb undergrowth, Abnormal limb bone morphology ORPHA:2204
Astley-Kendall Dysplasia
Micromelia ORPHA:85175
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Brachydactyly, Mesomelia ORPHA:1277
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal cupping of metacarpals, Broad proximal phalanges of the hand, Metaphyseal cupping, Ab... ORPHA:174
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Abnormality of the epiphyses of the feet, Genu valgum,... ORPHA:166002
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Microcephaly, Radioulnar synostosis, Bra... OMIM:617604
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Short palm, Coxa vara ORPHA:168555
Hypochondroplasia
Micromelia, Short toe, Abnormal femur morphology, Bowing of the long bones, Brachydactyly, Macroc... ORPHA:429
Fanconi Anemia, Complementation Group G
Microcephaly, Abnormality of chromosome stability, Abnormal thumb morphology OMIM:614082
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the radius, Micromelia, Short 5th metacarpal, Hemiatrophy, Abnormal morphol... ORPHA:1350
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Short tibia, Radial bowing, Short thumb, Dista... OMIM:201250
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Short humerus, Microcephaly, Aplasia/Hypoplasia of the ulna, Split hand, Postaxial ha... ORPHA:2491
Ruvalcaba Syndrome
Small hand, Micromelia, Microcephaly, Short phalanx of finger, Short metatarsal, Short foot, Shor... OMIM:180870
Lethal Recessive Chondrodysplasia
Limb undergrowth, Micrognathia, Micromelia, Flared elbow metaphyses ORPHA:1423
Meckel Syndrome, Type 9
Talipes equinovarus, Limb undergrowth OMIM:614209
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Macrocephaly, Cox... ORPHA:63446
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Hypoplasia of the radius, Metatars... ORPHA:2249
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Dysplasia of the femoral head, Cone-shaped epiphysis of the 1st metac... OMIM:607778
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis OMIM:156232
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Abnormal thumb morphology, Abn... ORPHA:2639
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Ophthalmomandibulomelic Dysplasia
Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Lateral humeral condyle ... ORPHA:2741
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Hypertrichosis Cubiti
Microcephaly, Rhizomelia, Micromelia ORPHA:2220
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h... ORPHA:1836
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Pseudoachondroplasia
Abnormal femoral epiphysis morphology, Hypoplasia of the odontoid process, Short femoral neck, Fl... ORPHA:750
Nievergelt Syndrome
Genu valgum, Talipes equinovarus, Radioulnar synostosis, Metatarsus adductus, Tarsal synostosis, ... OMIM:163400
Rhizomelic Chondrodysplasia Punctata
Microcephaly, Rhizomelia, Limb undergrowth, Abnormal metaphysis morphology ORPHA:177
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Hypoplasia of the corpus callos... OMIM:617102
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Genu valgum, Micrognathia, Irregular epiphyses of the metacarpals, Limb undergrowth, B... OMIM:614078
Thoracomelic Dysplasia
Genu valgum, Short ribs, Limb undergrowth, Diaphyseal undertubulation, Abnormal fibula morphology... ORPHA:1803
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... ORPHA:2634
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal metap... ORPHA:2631
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r... OMIM:602418
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma... ORPHA:2633
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... OMIM:300863
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Bowing of the legs ORPHA:156728
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognathia, Talipes equinovarus, Bifid humerus, ... OMIM:256050
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Micromelia, Upper limb undergrowth, Genu valgum, Short palm, Coxa var... ORPHA:93351
Laron Syndrome
Limb undergrowth OMIM:262500
Thanatophoric Dysplasia, Glasgow Variant
Micromelia OMIM:273680
Acrocephalopolydactyly
Limb undergrowth, Brachydactyly ORPHA:221054
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
Distal Deletion 17Q
Small hand, Deviation of finger, Micromelia, Abnormal thumb morphology, Microcephaly, Aplasia/Hyp... ORPHA:1597
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Genu valgum, Micrognathia, Broad phalanx, Bilateral talipes equin... ORPHA:56304
Kyphomelic Dysplasia
Micromelia, Micrognathia, Missing ribs, Bowing of the long bones, Large hands, Abnormal metaphysi... ORPHA:1801
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Toe syndactyly, 2-3 toe syndactyly, Limb undergrowth, Adducted thumb, Clinodactyly of the 5th fin... OMIM:616809
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Fibular aplasia, Metatarsus valgus, Flared radial metaphysis, Bowi... ORPHA:85170
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Pallister-Hall-Like Syndrome
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Micrognathia, Short ribs, Microcephaly, M... OMIM:241800
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Cerebral atrophy, Polymicrogyria, Periventricular leukomalacia, Hypoplasi... ORPHA:79243
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam... OMIM:300244
Fanconi Anemia, Complementation Group U
Chromosome breakage, Absent thumb, Microcephaly, Hypoplasia of the radius, Absent radius, Absent ... OMIM:617247
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia ORPHA:93283
Diastrophic Dysplasia
Ulnar deviation of finger, Hypoplastic cervical vertebrae, Micromelia, Short finger, Camptodactyl... ORPHA:628
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Ulnar deviation of finger, Brachydactyly, Micromelia, Camptodactyly of finger ORPHA:2928
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Flared metaphysis, Temporal lobe dysplasia, Cerebel... OMIM:187601
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co... OMIM:164900
Autosomal Recessive Omodysplasia
Rhizomelia, Micromelia, Micrognathia, Abnormal femur morphology, Abnormal morphology of the radiu... ORPHA:93329
Odontochondrodysplasia 1
Mesomelia, Metaphyseal cupping, Micromelia, Short metacarpal, Brachydactyly, Genu varum, Macrocep... OMIM:184260
Jeune Syndrome
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Brachydactyly, Postaxial hand polydactyly... ORPHA:474
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Severe limb shortening, Micromelia, Short ribs, L... OMIM:151210
Mesomelia-Synostoses Syndrome
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Mic... ORPHA:2496
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Broad thumb, Short finger, Brachydactyly, Metaphyseal widening, Relative macrocephaly... OMIM:612813
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Broad thumb, Brachydactyly, Relative macrocephaly, Mesomelia ORPHA:171866
Spondyloepimetaphyseal Dysplasia, Shohat Type
Fibular overgrowth, Micromelia, Short femoral neck, Flared metaphysis, Central vertebral hypoplas... OMIM:602557
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, Metaphyseal wi... OMIM:618961
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Aplasia/Hypoplasia of the cerebellum, Micromelia ORPHA:2772
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Oligodactyly, M... OMIM:251230
Greenberg Dysplasia
Rhizomelia, Micrognathia, Brachydactyly, Micromelia ORPHA:1426
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia... ORPHA:85166
Achondrogenesis Type 1B
Micromelia, Micrognathia, Talipes equinovarus, Macrocephaly, Short foot ORPHA:93298
Achondrogenesis Type 1A
Micromelia, Micrognathia, Macrocephaly, Short foot, Short palm ORPHA:93299
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Short toe, Oligodactyly, Foot oligodactyly, Fibul... ORPHA:93323
Acromesomelic Dysplasia, Hunter-Thompson Type
Acromesomelia, Short thumb, Brachydactyly, Cuboidal metacarpal, Tarsal synostosis, Short metacarp... ORPHA:968
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Micrognathia, Abnormal femur morphology, Abnormal metacarpal morphology, Limb ... ORPHA:3429
Chondrodysplasia, Blomstrand Type
Micromelia, Flared metaphysis, Advanced tarsal ossification, Micrognathia, Short ribs, Advanced o... OMIM:215045
Image Syndrome
Micromelia, Metaphyseal dysplasia ORPHA:85173
Schisis Association
Microcephaly, Anencephaly, Micromelia ORPHA:63862
Schneckenbecken Dysplasia
Hypoplastic scapulae, Advanced tarsal ossification, Short ribs, Limb undergrowth, Dumbbell-shaped... OMIM:269250
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Decreased fibular diameter, Micrognathia, Short ribs, Cerebellar hypoplasia, M... OMIM:616897
4Q21 Microdeletion Syndrome
Small hand, Toe syndactyly, Micromelia, Agenesis of corpus callosum, Cerebellar hypoplasia, Short... ORPHA:238750
Aminopterin/Methotrexate Embryofetopathy
Finger syndactyly, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Microceph... ORPHA:1908
C Syndrome
Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ... OMIM:211750
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Micromelia, Coarse metaphyseal trabecularization, Camptodactyly o... ORPHA:2635
Nivelon-Nivelon-Mabille Syndrome
Cerebellar vermis hypoplasia, Micromelia, Microcephaly, Short phalanx of finger, Brachydactyly, T... OMIM:600092
Achondrogenesis
Micrognathia, Micromelia, Macrocephaly ORPHA:932
Ruvalcaba Syndrome
Small hand, Synostosis of carpal bones, Micromelia, Microcephaly, Brachydactyly, Clinodactyly of ... ORPHA:3121
Acrodysostosis
Cone-shaped metacarpal epiphyses, Short toe, Micromelia, Abnormal diaphysis morphology, Abnormal ... ORPHA:950
Coxoauricular Syndrome
Abnormal femur morphology, Micromelia ORPHA:1508
Hall-Riggs Syndrome
Microcephaly, Limb undergrowth, Abnormal metaphysis morphology, Brachydactyly ORPHA:2107
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Micromelia, Short ribs, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Relative ... OMIM:617895
Odontochondrodysplasia
Micromelia, Bowing of the long bones, Short palm, Abnormal metaphysis morphology, Coxa valga ORPHA:166272
Achondroplasia
Rhizomelia, Trident hand, Limb undergrowth, Short proximal phalanx of finger, Brachydactyly, Macr... ORPHA:15
Acromesomelic Dysplasia 4
Rhizomelia, Radial bowing, Short toe, Short finger, Sandal gap, Broad finger, Prominent deltoid t... OMIM:619636
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal stippling, Brachydactyly... OMIM:609616
Atelosteogenesis, Type I
Rhizomelia, Radial bowing, Short finger, Fibular aplasia, Micrognathia, 11 pairs of ribs, Tibial ... OMIM:108720
Dpm1-Cdg
Sandal gap, Cerebral atrophy, Secondary microcephaly, Long hallux, Micrognathia, Hypoplasia of th... ORPHA:79322
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Micromelia, Abnormal diaphysis morphology, Abnormal femur morphology, Abnormal thumb ... ORPHA:1842
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Finger syndactyly, Micrognathia, Split hand, Brachydactyly ORPHA:2145
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Finger aplasia, Clinodactyly of the 2nd finger, Clinodactyly of the 3rd finger, Micrognathia, Cli... OMIM:620663
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Metaphyseal cupping, Radial bowing, Short femoral neck, Broad hallux, Flared metaphys... OMIM:618019
Microlissencephaly-Micromelia Syndrome
Micromelia, Secondary microcephaly, 11 pairs of ribs, Cerebellar hypoplasia, Adducted thumb, Liss... ORPHA:50810
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Sandal gap, Flared femoral metaphysis, Micrognathia, Fibular bowing, Tibia... ORPHA:1427
Beta-Mercaptolactate Cysteine Disulfiduria
Arachnodactyly, Micromelia, Genu valgum, Sandal gap ORPHA:1035
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Clubbing of fingers, Micrognathia, Short ribs, Microcephaly, Talipes equinovarus, Lim... ORPHA:1865
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Clinodactyly of the 2nd finger, Micromelia, Monkey wrench femoral neck, Genu v... OMIM:618870
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Mesomelic leg shortening, Fibular aplasia, Fibular hypoplasia, Absent... OMIM:605274
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Micrognathia, Brac... OMIM:618529
Chondrodysplasia-Difference Of Sex Development Syndrome
Cerebral hypoplasia, Micromelia, Microcephaly, Short phalanx of finger, Short metacarpal ORPHA:1422
Microcephalic Primordial Dwarfism, Dauber Type
Microcephaly, Limb undergrowth, Clinodactyly of the 5th finger, Short middle phalanx of the 5th f... ORPHA:319675
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Genu valgum, Limb undergrowth OMIM:619142
Cardioacrofacial Dysplasia 2
Postaxial foot polydactyly, Genu valgum, Limb undergrowth, Brachydactyly, Postaxial hand polydact... OMIM:619143
Acromesomelic Dysplasia 1
Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of... OMIM:602875
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Abnormal metaphysis morphology ORPHA:1861
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Micrognathia, Limb undergrowth, Tibial bowing ORPHA:453510
Atelosteogenesis Type I
Rhizomelia, Micrognathia, Talipes equinovarus, Limb undergrowth, Abnormal ossification involving ... ORPHA:1190
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, Micromelia, Oligodact... ORPHA:3258
Thanatophoric Dysplasia
Micromelia, Abnormal metaphysis morphology, Brachydactyly, Macrocephaly ORPHA:2655
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Micrognathia, Bowing of the long bones, Microcephaly, Talipes equinovarus OMIM:224410
Ollier Disease
Abnormal metaphysis morphology, Micromelia ORPHA:296
Thanatophoric Dysplasia Type 2
Micromelia, Abnormal metaphysis morphology, Brachydactyly, Macrocephaly ORPHA:93274
Achondrogenesis, Type Ib
Micromelia, Short ribs OMIM:600972
Acrofrontofacionasal Dysostosis
Cerebral cortical atrophy, Short distal phalanx of finger, Broad thumb, Micromelia, Camptodactyly... ORPHA:1784
Achondrogenesis Type 2
Micromelia, Delayed proximal femoral epiphyseal ossification, Short ribs ORPHA:93296
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Short ribs, Missing ... OMIM:617866
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... OMIM:614091
ERI1-related disease
Slender metacarpals, Oligodactyly, Micrognathia, Clinodactyly of the 5th finger, Tapered finger, ... OMIM:608739
Schwartz-Jampel Syndrome, Type 1
Abnormal femoral epiphysis morphology, Micromelia, Anterior bowing of long bones, Bowing of the l... OMIM:255800
Thanatophoric Dysplasia Type 1
Micromelia, Femoral bowing, Bowing of the long bones, Split hand, Brachydactyly, Macrocephaly, Ab... ORPHA:1860
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna... OMIM:600383
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Micromelia, Femoral bowing, Metaphyseal widening, Bowing of the legs OMIM:608728
Cousin Syndrome
Hydranencephaly, Hypoplastic scapulae, Rhizomelia, Fibular aplasia, Micrognathia, Dislocation of ... OMIM:260660
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Glutamine Deficiency, Congenital
Camptodactyly, Micromelia, Hypoplasia of the corpus callosum OMIM:610015
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Aplasia/Hypoplasia of the radius, Micromelia, Ulnar bowing ORPHA:1765
Hydrolethalus
Micromelia, Micrognathia, Absent septum pellucidum, Agenesis of corpus callosum, Postaxial hand p... ORPHA:2189
Spondyloepimetaphyseal Dysplasia, Shohat Type
Fibular overgrowth, Flared metaphysis, Central vertebral hypoplasia, Limb undergrowth, Metaphysea... ORPHA:93352
Kyphomelic Dysplasia
Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathia, Femoral bowi... OMIM:211350
Endocrine-Cerebroosteodysplasia
Sandal gap, Focal polymicrogyria, Preaxial polydactyly, Micromelia, Micrognathia, Fibular bowing,... OMIM:612651
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia of the femur, ... OMIM:609945
Schneckenbecken Dysplasia
Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic vertebral bodies, D... ORPHA:3144
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Aplasia/hypoplasia involving bones of the extremities, Postaxial foot polyda... ORPHA:508533
Achondrogenesis, Type Ia
Hypoplastic scapulae, Hypoplastic sacrum, Abnormal femoral metaphysis morphology, Severe limb sho... OMIM:200600
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Broad thumb, Clinodactyly, Micrognathia, Partial duplication of t... OMIM:616331
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Micromelia, Micrognathia, Short ribs, Bowing of the long bones, Adducted thumb, Metaphyseal widen... OMIM:224400
Dysostosis, Stanescu Type
Micromelia, Cerebral calcification, Bowing of the long bones, Microcephaly, Brachydactyly, Abnorm... ORPHA:1798
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Femoral retroversion, Micromelia ORPHA:79107
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Rhizomelia, Short thumb, Camptodactyly of finger, Bowing of th... OMIM:166250
Tbck-Related Intellectual Disability Syndrome
Global brain atrophy, Clinodactyly, 11 pairs of ribs, Abnormal periventricular white matter morph... ORPHA:488632
Desmosterolosis
Abnormal cortical gyration, Micromelia, Polymicrogyria, Micrognathia, Absent septum pellucidum, A... ORPHA:35107
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short toe, Short finger, Bowing of the arm, Short ribs, Limb undergrowth, B... OMIM:269860
Greenberg Dysplasia
Postaxial foot polydactyly, Micrognathia, Diaphyseal undertubulation, Short metacarpal, Brachydac... OMIM:215140
Gm1 Gangliosidosis
Coarse metaphyseal trabecularization, Abnormal diaphysis morphology, Camptodactyly of finger, Lim... ORPHA:354
Multiple Osteochondromas
Abnormal tibia morphology, Abnormal hand morphology, Abnormality of the tarsal bones, Genu valgum... ORPHA:321
Osteogenesis Imperfecta, Type X
Rhizomelia, Micromelia, Genu valgum, Micrognathia, Fibular bowing, Tibial bowing, Bowing of the l... OMIM:613848
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Cerebral atrophy, Hypoplasia of the corpus callosum, Talipes equinovarus, Limb... OMIM:619124
Osteogenesis Imperfecta, Type Xvi
Rhizomelia, Microretrognathia, Bowing of the long bones, Angulated humerus, Mesomelia OMIM:616229
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mesomelia, Rhizomelia, Genu valgum, Metaphyseal striations, Flat capital femoral epiphysis, Brach... OMIM:271510
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Micromelia, Short ribs, Wide distal femoral metaphysis OMIM:613320
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Mesomelia, Rhizomelia, Femoral bowing, Tibial bowing, Hypoplasia of the corpus callosum, Macrocep... OMIM:616482
Gm1-Gangliosidosis, Type Ii
Hypoplastic vertebral bodies, Coxa valga, Limb undergrowth, Cerebral atrophy OMIM:230600
Hypophosphatasia, Infantile
Metaphyseal cupping, Micromelia, Short ribs, Short lower limbs, Bowing of the legs OMIM:241500
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Micrognathia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum... OMIM:210710
Becker Nevus Syndrome
Abnormal tibia morphology, Micromelia ORPHA:64755
Robin Sequence With Cleft Mandible And Limb Anomalies
Short 5th finger, Microretrognathia, Radial deviation of the hand, Short tibia, Short thumb, Meso... OMIM:268305
Pycnodysostosis
Mesomelia, Small hand, Rhizomelia, Acromelia, Short finger, Micrognathia, Brachydactyly, Osteolyt... ORPHA:763
Cartilage-Hair Hypoplasia
Small hand, Abnormality of chromosome stability, Rhizomelia, Micromelia, Abnormal diaphysis morph... ORPHA:175
Osteogenesis Imperfecta, Type Ii
Limb undergrowth, Tibial bowing OMIM:166210
Kagami-Ogata Syndrome
Coxa valga, Micrognathia, Limb undergrowth, Long fingers OMIM:608149
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... OMIM:268310
Neu-Laxova Syndrome
Abnormal cortical gyration, Micromelia, Polymicrogyria, Cerebral calcification, Micrognathia, Abs... ORPHA:2671
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Short Stature, Microcephaly, And Endocrine Dysfunction
Microcephaly, Limb undergrowth, Clinodactyly, Simplified gyral pattern OMIM:616541
Fibrochondrogenesis
Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Short r... ORPHA:2021
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Aplastic clavicle, Micromelia, Hypoplasia of the brainstem, Polymic... OMIM:616546
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Microcephaly, Limb undergrowth OMIM:618005
Blomstrand Lethal Chondrodysplasia
Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Flared metaphysis, Distal shortening of limbs... ORPHA:50945
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Hypoplasia of the corpus callosum, Microcephaly, Brachydactyly, Coxa vara, Clinodacty... ORPHA:2637
Spondyloenchondrodysplasia
Short distal phalanx of finger, Cerebral calcification, Abnormal periventricular white matter mor... ORPHA:1855
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p... ORPHA:3103
Infantile Systemic Hyalinosis
Micromelia, Camptodactyly of finger, Brachydactyly, Macrocephaly, Short palm ORPHA:2176
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Micromelia, Broad hallux, Brachydactyly, Syndactyly OMIM:614800
Mosaic Trisomy 9
Micromelia, Finger clinodactyly, Camptodactyly of finger, Micrognathia, Microcephaly, Talipes equ... ORPHA:99776
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Dist... OMIM:146510
Neu-Laxova Syndrome 1
Hydranencephaly, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radial deviation of... OMIM:256520
3M Syndrome
Micromelia, Hypoplasia of the ulna, Clinodactyly of the 5th finger, Rocker bottom foot, Abnormal ... ORPHA:2616
Sponastrime Dysplasia
Mesomelia, Metaphyseal irregularity, Rhizomelia, Flattened humeral epiphyses, Short femoral neck,... ORPHA:93357
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short phalanx of finger, Limb undergrowth, Micrognathia, Short toe OMIM:225410
Kinsship Syndrome
Mesomelia, Micrognathia, Fibular hypoplasia, Polydactyly, Microcephaly, Coxa valga, Primary micro... OMIM:619297
Apert Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Micromelia, Absent septum pellucidum, Agenesis of... ORPHA:87
Chromosome 14Q11-Q22 Deletion Syndrome
Micrognathia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Pachy... OMIM:613457
Campomelia, Cumming Type
Bowing of the long bones, Clubbing of toes, Micromelia, Brachydactyly ORPHA:1318
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, 2-3 toe syndactyly, Brachydactyly, Clinodactyly of the 5th finger, Metaphyseal irregu... OMIM:618162
Radio-Renal Syndrome
Micromelia, Micrognathia, Hypoplasia of the radius, Brachydactyly, Short palm ORPHA:3015
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Micrognathia, Small proximal tibial epiphys... ORPHA:96334
Cornelia De Lange Syndrome 1
Finger aplasia, Micromelia, Hypoplastic radial head, Micrognathia, 2-3 toe syndactyly, Microcepha... OMIM:122470
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Micrognathia, Ulnar bowing, Talipe... OMIM:263650
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Micrognathia, Brachydactyly, Macrocephaly, Camptodactyly, Short phalan... OMIM:616894
Geleophysic Dysplasia 3
Limb undergrowth, Short foot, Brachydactyly OMIM:617809
Leukocyte Adhesion Deficiency Type Ii
Cerebral atrophy, Overlapping toe, Hypoplasia of the frontal lobes, Microcephaly, Limb undergrowth ORPHA:99843
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxia... OMIM:263520
Raine Syndrome
Micromelia, Long hallux, Cerebral calcification, Micrognathia, Bowing of the long bones, Microcep... OMIM:259775
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Triangular shaped distal phalanges of the hand, Broad metacarpals, Hypoplasia of the odontoid pro... OMIM:271665
Autosomal Recessive Robinow Syndrome
Short distal phalanx of finger, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Br... ORPHA:1507
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Cerebral cortical atrophy, Finger syndactyly, Micromelia, Preaxi... ORPHA:2753
Smith-Lemli-Opitz Syndrome
Rhizomelia, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger syndactyly, Ulna... ORPHA:818
Dihydropyrimidine Dehydrogenase Deficiency
Micromelia, Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Microcephaly, Macro... ORPHA:1675
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Aplastic clavicle, Broad distal phalanx of finger, Bifid femur, Micromelia, Abnormal distal phala... ORPHA:2636
Slc39A8-Cdg
Cerebral cortical atrophy, Cutaneous syndactyly of toes, Limb undergrowth ORPHA:468699
Schwartz-Jampel Syndrome
Micromelia, Micrognathia, Genu valgum, Metatarsus valgus, Bowing of the long bones, Microcephaly,... ORPHA:800
Robinow Syndrome
Short distal phalanx of finger, Micrognathia, Missing ribs, Bifid distal phalanx of the thumb, Br... ORPHA:97360
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly, Radial deviation ... OMIM:180700
Smith-Lemli-Opitz Syndrome
2-3 toe cutaneous syndactyly, Global brain atrophy, Microretrognathia, Short toe, Short thumb, Mi... OMIM:270400
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Micrognathia, Polydactyly, Short ribs, Brachydactyly, Macrocephaly, Pos... OMIM:613610
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Micromelia, Camptodactyly of finger, Avascular necrosis of the capital femoral... ORPHA:3107
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Synostosis of carpal bones, Micromelia, Genu valgum, Hand polydac... ORPHA:289
Ulbright-Hodes Syndrome
Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis, Short h... ORPHA:3404
C Syndrome
Toe syndactyly, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Microcephaly... ORPHA:1308
8Q24.3 Microdeletion Syndrome
Short 5th finger, Global brain atrophy, Optic nerve hypoplasia, Microretrognathia, Micromelia, Fi... ORPHA:508488
Camptodactyly Syndrome, Guadalajara Type 3
Distal shortening of limbs, Small hand, Short foot, Broad femoral neck ORPHA:488434
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Preaxial hand polydactyly, Micrognathia, Agenesis of corpus callosum, Cerebellar hypo... ORPHA:93271
Osteogenesis Imperfecta
Rhizomelia, Micromelia, Dislocated radial head, Abnormal tibia morphology, Micrognathia, Abnormal... ORPHA:666
Cornelia De Lange Syndrome
Cerebral cortical atrophy, Small hand, Toe syndactyly, Short 1st metacarpal, Micromelia, Oligodac... ORPHA:199
Pyknoachondrogenesis
Micromelia, Increased head circumference, Short ribs ORPHA:3003
Acrocephalopolydactylous Dysplasia
Micromelia, Postaxial hand polydactyly OMIM:200995
Stüve-Wiedemann Syndrome
Micromelia, Camptodactyly of finger, Genu valgum, Bowing of the long bones, Talipes equinovarus, ... ORPHA:3206
Peters Plus Syndrome
Cerebral cortical atrophy, Rhizomelia, Toe syndactyly, Short toe, Micromelia, Aplasia/Hypoplasia ... ORPHA:709
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Micromelia, Femoral retroversion, Coxa vara, Bowing of the legs OMIM:610682
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Microcephaly, Limb undergrowth, Cutaneous syndactyly ORPHA:2052

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 Donson

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 Donson.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The microcephaly gene Donson is essential for progenitors of cortical glutamatergic and GABAergic neurons. PLoS genetics (March 2021) Donsontm1a(EUCOMM)Hmgu PMC8011756
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Donsontm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Donsontm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)