Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
OFD1, centriole and centriolar satellite protein
Synonyms:
ORF2,  DXGgc7e,  oral-facial-digital syndrome 1 gene homolog (human)

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Ofd1 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 Ofd1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ofd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Radioulnar synostosis, Limited elbow extension, Dislocated radial head OMIM:179300
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... OMIM:191440
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the ulna, Hypoplasia of the radius OMIM:107900
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormality of the ulna, Abnormality of ulnar metaphysis, Abnormality o... ORPHA:1040
Ring Chromosome 4 Syndrome
Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the radius, Abnormality of the upper limb ORPHA:1447
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... OMIM:201250
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Madelun... OMIM:249700
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Bowing of the long bones, Broad tibial metaphyses, Hypoplasia of proxim... ORPHA:85170
Radial Hemimelia
Abnormal thumb morphology, Deviation of the hand or of fingers of the hand, Abnormality of the sc... ORPHA:93321
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Acromesomelic Dysplasia 2A
Acromesomelia, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Short phalanx o... OMIM:200700
Acheiropodia
Absent radius, Abnormality of epiphysis morphology, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Split foot, Aplasia/Hypoplasia of the radius ORPHA:1122
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Aplasia of metacarpal bon... ORPHA:93320
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Léri-Weill Dyschondrosteosis
Genu varum, Abnormality of the ulna, Abnormal hip bone morphology, Clinodactyly of the 5th finger... ORPHA:240
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Mesomelia, Tarsal synostosis OMIM:156232
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Dyschondrosteosis And Nephritis
Madelung deformity, Short forearm, Ulnar bowing, Short tibia, Radial bowing OMIM:127350
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia ORPHA:2252
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Elbow dislocation, Metatarsus adductus, Microme... ORPHA:2249
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... OMIM:601376
Radial Ray Hypoplasia With Choanal Atresia
Distally placed thumb, Small thenar eminence, Hypoplasia of the radius, Short thumb OMIM:179270
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Short hallux, Shor... ORPHA:93388
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Syndactyly OMIM:212780
Ophthalmomandibulomelic Dysplasia
Coxa valga, Decreased mobility 3rd-5th fingers, Fibular hypoplasia, Radioulnar dislocation, Elbow... OMIM:164900
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Single transverse palmar crease, Fibular hypoplasia, Short 5th finger, Hy... OMIM:227270
Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly, Radial club hand, Short metacarpal, Preaxial hand polydactyly, Broad thumb, Short ... ORPHA:1278
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Upper limb undergrowth, Hypoplasia of the radius, Short humerus, Hypertro... ORPHA:75508
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Synostosis of carpal bones, Abnormal thumb morphology, Abnormality of the ulna, Ab... ORPHA:2639
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Phocomelia, Absent radius, Triphalan... OMIM:142900
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Metaphyseal cuppin... OMIM:602111
Microcephaly, Short Stature, And Limb Abnormalities
Brachydactyly, Short metacarpal, Clinodactyly of the 5th finger, Dislocated radial head, Hypoplas... OMIM:617604
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Hand oligodactyly, Hypoplasia of the radius, Proximal radial head dislocation, Prox... OMIM:602418
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Aplasia of the tarsal bones, Absent metatars... OMIM:200500
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Fibular duplication, Short fo... OMIM:135750
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Ectrodac... ORPHA:2878
Spondylometaphyseal Dysplasia, Algerian Type
Carpal bone hypoplasia, Hypoplasia of proximal radius, Short long bone, Short greater sciatic not... OMIM:184253
Acromesomelic Dysplasia 1
Acromesomelia, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metata... OMIM:602875
Diamond-Blackfan Anemia 11
Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis, Forearm re... OMIM:614900
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Short femoral neck, Broad radial metaphysis, Wide distal femoral metaphysis, Broad femoral neck, ... ORPHA:99642
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius ORPHA:3469
Multiple Epiphyseal Dysplasia Type 4
Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Delayed femoral head os... ORPHA:93307
Juberg-Hayward Syndrome
Toe syndactyly, Hammertoe, Short thumb, Hypoplasia of the radius, Radioulnar synostosis, Abnormal... ORPHA:2319
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Brachymesomelia-Renal Syndrome
Single transverse palmar crease, Fibular hypoplasia, Hypoplasia of the radius, Ulnar bowing, Meso... OMIM:113470
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Shallow acetabular fossae, Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar syn... OMIM:605432
Mietens Syndrome
Hypoplasia of the ulna, Coxa valga, Clinodactyly of the 5th finger, Abnormality of fibula morphol... ORPHA:2557
Ivic Syndrome
Absent thumb, Small thenar eminence, Carpal synostosis, Hypoplasia of the ulna, Limited interphal... OMIM:147750
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Multiple palmar creases, Preaxial polydactyly, Mesomelic leg short... ORPHA:2756
Thalidomide Embryopathy
Radial club hand, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Triphalangea... ORPHA:3312
Acrodysostosis
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Short metacarpal, Epiphyseal stip... ORPHA:950
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metaca... OMIM:617247
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormal ilium morphology, Short greater sciatic notch, Squared iliac bones, Abnormal... ORPHA:93314
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Fanconi Anemia, Complementation Group O
Absent thumb, Hypoplasia of the radius, Short thumb OMIM:613390
Fibular Hemimelia
Fibular hypoplasia, Spina bifida, Abnormal morphology of ulna, Short tibia, Short toe, Arthralgia... ORPHA:93323
Atelosteogenesis, Type Iii
Widened distal phalanges, Sandal gap, Rhizomelia, Tibial bowing, Elbow dislocation, Flat acetabul... OMIM:108721
Dyschondrosteosis-Nephritis Syndrome
Madelung deformity, Micromelia, Ulnar bowing, Radial bowing, Aplasia/Hypoplasia of the radius ORPHA:1765
Acromesomelic Dysplasia 4
Genu varum, Broad toe, Prominent deltoid tuberosities, Metaphyseal irregularity, Broad phalanx, S... OMIM:619636
Radial Aplasia, X-Linked
Absent radius OMIM:312190
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Oligodacty... ORPHA:3258
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly, Aplasia... ORPHA:2378
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Hip dysplasia, Hip dislocation, Absent r... ORPHA:93322
Ivic Syndrome
Synostosis of carpal bones, Triphalangeal thumb, Aplastic clavicle, Hypoplasia of the radius, Sho... ORPHA:2307
Kyphomelic Dysplasia
Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micromelia, Ulnar bowing, Flared metaph... OMIM:211350
Postaxial Acrofacial Dysostosis
Hypoplasia of the radius, Camptodactyly of finger, Hypoplasia of the ulna, Finger syndactyly ORPHA:246
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Brachydactyly, Pseudoepiphyses of the metacarpals, Clinodactyly of the 5th finger, Tibial bowing,... OMIM:210720
Trisomy 4P
Radial club hand, Camptodactyly of finger, Preaxial hand polydactyly ORPHA:1738
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Hypoplastic iliac wing, Short toe, Hand monodactyly... OMIM:609945
Phocomelia, Schinzel Type
Bowing of the long bones, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis, Hypoplasia ... ORPHA:2879
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Finger syndactyly, Absent radius, Phocomelia, Clinodactyly of the 5th fin... ORPHA:3320
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the radius, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Syn... OMIM:617895
Ventriculomegaly With Defects Of The Radius And Kidney
Absent thumb, Bowed forearm bones, Absent radius, Forearm undergrowth OMIM:602200
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Brachydactyly, Hypoplasia of the ulna, Single transverse palmar crease, Rhizomelia, Hypoplasia of... OMIM:602613
Multiple Osteochondromas
Abnormal pelvis bone morphology, Deformed radius, Abnormal morphology of ulna, Metaphyseal wideni... ORPHA:321
Nail-Patella Syndrome
Iliac horns, Disproportionate prominence of the femoral medial condyle, Absent distal interphalan... OMIM:161200
Radial-Renal Syndrome
Absent thumb, Absent radius OMIM:179280
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Sandal gap, Hypoplasia of the radius, Short tibia, Short humerus, Talipes equinovarus... OMIM:607143
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Abnormality of fibula morphology, Tibial bowing, Lower limb undergrowth... ORPHA:3035
Fanconi Anemia, Complementation Group W
Absent thumb, Abnormality of radial ray, Hypoplasia of the radius OMIM:617784
Absent Radius-Anogenital Anomalies Syndrome
Ectrodactyly, Oligodactyly, Hypoplasia of the radius ORPHA:3016
W Syndrome
Clinodactyly, Hypoplasia of the ulna, Elbow dislocation, Metatarsus adductus, Cubitus valgus, Cam... ORPHA:2804
Otopalatodigital Syndrome, Type Ii
Short thumb, Bulbous tips of toes, Irregular metacarpals, Broad hallux, Short metatarsal, Ulnar b... OMIM:304120
Achondrogenesis, Type Ia
Hypoplastic ischia, Hypoplasia of the radius, Hypoplastic scapulae, Micromelia, Abnormal hand bon... OMIM:200600
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Radial bowing, ... OMIM:601027
Pallister W Syndrome
Clinodactyly, Hypoplasia of the ulna, Metatarsus adductus, Cubitus valgus, Camptodactyly, Radial ... OMIM:311450
Ulnar-Mammary Syndrome
Hypoplasia of the ulna, Aplasia of the 3rd finger, Absent radius, Aplasia of the 5th finger, Elbo... OMIM:181450
Seckel Syndrome 1
Hypoplasia of proximal radius, Single transverse palmar crease, Elbow flexion contracture, Cone-s... OMIM:210600
Atelosteogenesis, Type I
Brachydactyly, Clubbing, Short metacarpal, Rhizomelia, Short femur, Tibial bowing, Club-shaped pr... OMIM:108720
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Single transverse palmar crease, 2-3 toe syndactyly, Preaxial ... OMIM:617866
Duane-Radial Ray Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Upper limb muscle hypoplasia, Absent... OMIM:607323
Robin Sequence With Cleft Mandible And Limb Anomalies
Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviation of toes, S... OMIM:268305
Nager Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Triphalangeal thumb, Hypoplasia of the radius, Aplas... ORPHA:245
Acrofacial Dysostosis 1, Nager Type
Absent thumb, Clinodactyly, Toe syndactyly, Absent radius, Aplasia/Hypoplasia of the thumb, Triph... OMIM:154400
Tarp Syndrome
Clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, Short sternum, Hypoplasia of... OMIM:311900
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of the radius, Hypoplas... ORPHA:958
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia involving the carpal bones, Aplasia of the ulna, Carpal bone aplasia, Aplasia/... OMIM:276820
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Proximal placement of thumb, Hand polydactyly, Absent radius, Short humerus OMIM:314390
Roberts Syndrome
Brachydactyly, Synostosis of carpal bones, Bowing of the long bones, Finger syndactyly, Phocomeli... ORPHA:3103
Microcephaly-Micromelia Syndrome
Absent radius, Oligodactyly, Micromelia, Short tibia, Humeroradial synostosis, Forearm undergrowt... OMIM:251230
Marshall Syndrome
Small proximal tibial epiphyses, Irregular distal femoral epiphysis, Coxa valga, Irregular proxim... OMIM:154780
Rhyns Syndrome
Brachydactyly, Radial bowing, Short femoral neck OMIM:602152
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Congenital hip dislocation, Hypoplasia of the radius, Short thumb, Radiou... OMIM:263750
Atelosteogenesis Type Iii
Absent humerus, Absent radius, Ulnar deviation of the wrist, Elbow dislocation, Epiphyseal stippl... ORPHA:56305
Distal Trisomy 5Q
Brachydactyly, Hypoplasia of the radius, Hypoplasia of the ulna, Absent thumb ORPHA:96097
Fanconi Anemia, Complementation Group I
Absent thumb, Hypoplasia of the radius, Short thumb, Short 1st metacarpal OMIM:609053
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Toe syndactyly, Abnormal thumb morphology, Hypoplasia of the ulna, Finger s... ORPHA:959
Fanconi Anemia, Complementation Group P
Absent thumb, Hypoplasia of the radius, Short thumb OMIM:613951
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Abnormality of the radius ORPHA:2165
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Hallux valgus, Metaphyseal widening, Genu valgum, Hip dislocation, Flared meta... OMIM:271640
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Toe syndactyly, Hypoplasia of the ulna, Foot polydactyly, Hypoplasia of the r... OMIM:200980
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Phocomelia OMIM:184705
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Absent radius, Aplasia/Hypoplasia of the thumb, Clinodactyly of the 5th f... ORPHA:1352
Renal Dysplasia-Limb Defects Syndrome
Phocomelia, Short sternum, Short metacarpal, Hypoplasia of the radius, Aplasia of the ulna, Fibul... OMIM:266910
Microgastria-Limb Reduction Defects Association
Absent thumb, Hypoplasia of the ulna, Hand oligodactyly, Phocomelia, Hypoplasia of the radius, Ar... OMIM:156810
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand OMIM:276950
Radio-Renal Syndrome
Brachydactyly, Short palm, Hypoplasia of the radius, Micromelia, Abnormality of the elbow ORPHA:3015
Baller-Gerold Syndrome
Carpal synostosis, Hypoplasia of the ulna, Patellar hypoplasia, Absent radius, Aplasia/Hypoplasia... OMIM:218600
Sc phocomelia syndrome
Clinodactyly, Phocomelia, Absent radius, Short thumb, Aplasia of the ulna, Radial deviation of fi... OMIM:269000
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Foot polydactyly, Phocomelia, Aplasia/Hypoplasia of the thumb, Hypoplasia... ORPHA:3186
Duane Retraction Syndrome
Brachydactyly, Absent radius, Aplasia/Hypoplasia of the thumb, Triphalangeal thumb, Hypoplasia of... ORPHA:233
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Hand oligodactyly, 2-3 toe syndactyly, Short sternum, Dislocated... OMIM:122470
Tetraploidy
Radial club hand ORPHA:3305
Fanconi Anemia, Complementation Group F
Absent thumb, Hypoplasia of the radius, Short thumb, 2-3 finger syndactyly OMIM:603467
Tarp Syndrome
Clinodactyly, Hypoplasia of proximal radius, Finger syndactyly, Single transverse palmar crease, ... ORPHA:2886
Ulbright-Hodes Syndrome
Abnormal forearm bone morphology, Phocomelia, Short sternum, Short metacarpal, Hypoplasia of the ... ORPHA:3404
Osteogenesis Imperfecta, Type Viii
Short metacarpal, Tibial bowing, Slender long bone, Femoral bowing, Radial bowing OMIM:610915
Vacterl With Hydrocephalus
Spina bifida, Hypoplasia of the radius, Hip dislocation, Arrhinencephaly ORPHA:3412
Vater/Vacterl Association
Absent radius, Occipital encephalocele, Preaxial polydactyly, Triphalangeal thumb, Short thumb, H... OMIM:192350
Lacrimoauriculodentodigital Syndrome
Small thenar eminence, Hypoplasia of the ulna, Absent radius, Bilateral triphalangeal thumbs, Cli... OMIM:149730
Diamond-Blackfan Anemia 1
Absent thumb, Partial duplication of thumb phalanx, Triphalangeal thumb, Short thumb, Hypoplasia ... OMIM:105650
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the radius, Toe syndactyly ORPHA:140952
Lacrimoauriculodentodigital Syndrome
Absent thumb, Clinodactyly, Abnormal thumb morphology, Toe syndactyly, Finger syndactyly, Short t... ORPHA:2363
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Brachydactyly, Hypoplasia of proximal radius, Fibular hypoplasia, Small hand, Hip subluxation ORPHA:444077
Pallister-Hall Syndrome
Brachydactyly, Broad toe, Polydactyly affecting the 3rd finger, Toe syndactyly, Mesoaxial polydac... ORPHA:672
Orofaciodigital Syndrome Type 6
Brachydactyly, Foot polydactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Preaxial pol... ORPHA:2754
Simpson-Golabi-Behmel Syndrome, Type 2
Clinodactyly, Single transverse palmar crease, Broad palm, Tapered finger, Congenital hip disloca... OMIM:300209
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Orofaciodigital Syndrome Type 1
Brachydactyly, Foot polydactyly, Finger syndactyly, Deviation of finger, Clinodactyly of the 5th ... ORPHA:2750
Orofaciodigital Syndrome I
Brachydactyly, Clinodactyly, Myelomeningocele, Polydactyly, Short 2nd toe, Radial deviation of fi... OMIM:311200
Primary Ciliary Dyskinesia
Clubbing ORPHA:244
Retinitis Pigmentosa 23
OMIM:300424
Retinitis Pigmentosa
ORPHA:791

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 Ofd1

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 Ofd1.

No publications found that use IMPC mice or data for Ofd1.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Ofd1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ofd1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ofd1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ofd1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter