Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
homeobox D8
Synonyms:
Hox-4.3,  4921540P06Rik,  Hox-5.4

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 Hoxd8 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hoxd8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cervical Rib
Cervical ribs OMIM:117900
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Osteoarthritis of the small joints of the hand... OMIM:118610
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, Abnormality... ORPHA:3268
Bone Dysplasia, Lethal, Holmgren Type
Bell-shaped thorax, Short ribs, Narrow chest OMIM:211120
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Metaphyseal irregularity, Pectus carinatum, Osteoporotic metatarsal, Osteo... OMIM:609052
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... OMIM:609813
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Bowing of the long bones... ORPHA:1801
Acrodysplasia Scoliosis
Scoliosis, Brachydactyly, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Postaxial hand polydactyly, Toe syndactyly, Narrow ch... ORPHA:474
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, ... OMIM:615633
Thoracolaryngopelvic Dysplasia
Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Hypoplastic iliac wing, Irre... OMIM:187760
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Flared, irregular rib ends, Short palm ORPHA:168555
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs, Slender long bone, Abnormality of pelvic girdle bone morphology ORPHA:1506
Congenital Pseudoarthrosis Of The Clavicle
Cervical ribs, Osteoarthritis, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Upper limb undergrowth, Short metatarsal, Hypoplastic pelvis, Pectus carinatum, Syno... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Thoracic hypoplasia, Irregular epiphyses, Narrow iliac wing, Hypoplastic... OMIM:608728
Acrocapitofemoral Dysplasia
Narrow chest, Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st... OMIM:607778
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Craniodiaphyseal Dysplasia
Abnormality of the ribs, Diaphyseal thickening ORPHA:1513
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Pectus excavatum, Hypoplastic distal segments of scapulae OMIM:602196
Thanatophoric Dysplasia, Type Ii
Narrow chest, Metaphyseal irregularity, Hypoplastic ilia, Wide-cupped costochondral junctions, Sh... OMIM:187601
Endosteal Hyperostosis, Worth Type
Abnormality of the ribs, Clavicular sclerosis, Diaphyseal thickening ORPHA:2790
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Genu valgum, Upper limb undergrowth, Short metatarsal, Pectus carinatum,... OMIM:271650
Hyperparathyroidism, Transient Neonatal
Thin ribs, Femoral bowing, Short ribs, Narrow chest OMIM:618188
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Abnormality of the metaphysis, Narrow chest ORPHA:1354
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Narrow chest, Metaphys... OMIM:269250
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Vertebral fusion, Abnormality of the ribs, Block vertebrae, Missing ribs OMIM:613686
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly, Syndactyly, Unilateral oligod... OMIM:173800
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Bowing of the lo... ORPHA:2097
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Distal ulnar epiphyseal stippling, Broad toe, Delayed ossification of carpal bones, Hypoplastic i... OMIM:609616
Metatropic Dysplasia
Camptodactyly of finger, Narrow chest, Halberd-shaped pelvis, Long thorax, Coarse metaphyseal tra... ORPHA:2635
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Thin ribs, As... OMIM:604922
Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:97330
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly OMIM:184400
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, Short ribs, Thin rib... OMIM:151210
Holt-Oram Syndrome
Abnormal clavicle morphology, Broad thumb, Radioulnar synostosis, Finger syndactyly, Split hand, ... ORPHA:392
Spondylocostal Dysostosis 5
Posterior rib fusion, Pectus carinatum, Vertebral fusion, Supernumerary ribs, Missing ribs OMIM:122600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Dislocated radial head, Multiple joint dislocation, Metaphyseal irregularity, Carpal bone hypopla... OMIM:618395
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Flared iliac wing, Metaphyseal cupping, Tibial bowing, Co... OMIM:602111
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Narrow chest, Abnormality of epiphysis morphology, Bowing of the lo... ORPHA:93267
Osteogenesis Imperfecta, Type Ix
Wormian bones, Pectus carinatum, Pectus excavatum, Beaded ribs, Short lower limbs OMIM:259440
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Patellar aplasia, Short ... OMIM:617604
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal widening, Genu valgum, Metaphyseal irregularity, Broad phalanx, Carpal bone hypoplasi... OMIM:250420
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Limited elbow extension, Short thorax, Genu valgum, Pectus carinatum, Shor... ORPHA:239
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:276422
Juberg-Hayward Syndrome
Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Radioulnar synostosis, Abnormali... ORPHA:2319
Achondrogenesis, Type Ii
Broad long bones, Horizontal ribs, Hypoplastic iliac wing, Short ribs, Short long bone, Short tub... OMIM:200610
Fibrochondrogenesis 1
Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Thin clavicles, Short long bone,... OMIM:228520
Diastrophic Dwarfism
Abnormal clavicle morphology, Hip dysplasia, Camptodactyly of finger, Elbow dislocation, Abnormal... ORPHA:628
Autosomal Dominant Spondylocostal Dysostosis
Abnormality of the ribs, Short thorax, Posterior rib fusion, Missing ribs ORPHA:1797
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Thoracic hypoplasia, Hypoplastic i... OMIM:617895
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Sprengel anomaly, Preaxial foot polydactyly, R... ORPHA:1988
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Short finger, Metaphyseal cupping, Tibial bo... OMIM:608940
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs, Brachydactyly, Abnormality of epiphysis morphology ORPHA:2643
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Ab... ORPHA:2345
Hypophosphatasia
Craniosynostosis, Narrow chest, Bowing of the long bones, Abnormality of the metaphysis, Abnormal... ORPHA:436
Mosaic Trisomy 14
Abnormality of the ribs, Camptodactyly of finger, Narrow chest ORPHA:1703
Cat-Eye Syndrome
Abnormality of the ribs, Hip dysplasia ORPHA:195
Achondrogenesis Type 1B
Abnormality of the ribs, Short thorax, Narrow chest, Short foot ORPHA:93298
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Metap... OMIM:300863
White Forelock With Malformations
Abnormality of the ribs, Sprengel anomaly, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:2475
Fibrochondrogenesis
Camptodactyly of finger, Broad ribs, Narrow chest, Hypoplastic scapulae, Bell-shaped thorax, Shor... ORPHA:2021
Achondrogenesis, Type Ia
Hypoplasia of the radius, Hypoplastic scapulae, Beaded ribs, Short ribs, Broad clavicles, Hypopla... OMIM:200600
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Pectus excavatum, Abnormal hip bone morphology, Abnormality of the ... ORPHA:2522
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Abnormality of epiphys... ORPHA:3082
Becker Nevus Syndrome
Abnormality of tibia morphology, Pectus carinatum, Pectus excavatum, Rib fusion, Supernumerary ribs ORPHA:64755
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Flared femoral met... OMIM:184253
Melnick-Needles Syndrome
Short thorax, Narrow chest, Bowing of the long bones, Short distal phalanx of finger, Osteolytic ... ORPHA:2484
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the ribs, Abnormality of the elbow, Slender long bone, Abnormal hip bone morphology ORPHA:1486
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Finger syndactyly, Split hand, Abnormality of the ribs, Brachydactyly ORPHA:2145
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormality of the ribs OMIM:300864
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Craniosynostosis, Broad ribs, Split hand, Carpal bone hypoplasia, Short r... OMIM:252600
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Abnormality of the ribs ORPHA:2578
Kenny-Caffey Syndrome, Type 1
Delayed closure of the anterior fontanelle, Short palm, Thin ribs, Slender long bone, Small hand,... OMIM:244460
Craniofaciofrontodigital Syndrome
Abnormal thumb morphology, Narrow chest, Abnormal hip bone morphology, Abnormality of the ribs, A... ORPHA:363705
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Broad ribs, Short humerus, Short ribs, Short clavicles, Short femoral neck, Prominent deltoid tub... OMIM:610319
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Lower limb undergrowth, Abnormality of th... ORPHA:3035
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Absent tibia, Thoracic hypoplasia, Preaxial polydactyly, Horizontal ribs, ... OMIM:613091
Eiken Syndrome
Broad ribs, Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finge... OMIM:600002
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Narrow chest, Flared iliac wing, Metaphyseal irregularity, Iliac crest s... OMIM:250220
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of limb bone morphology, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal ... OMIM:118100
Kyphomelic Dysplasia
Anterior rib cupping, Radial bowing, Lateral clavicle hook, Short femur, Bowed humerus, Thoracic ... OMIM:211350
Ellis-Van Creveld Syndrome
Genu valgum, Postaxial hand polydactyly, Narrow chest, Pectus carinatum, Horizontal ribs, Hypopla... OMIM:225500
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Dislocated radial head, Lateral clavicle hook, Craniosynostosis, Camptod... OMIM:600920
Cooper-Jabs Syndrome
Camptodactyly of finger, Abnormal hip bone morphology, Abnormality of the ribs, Proximal placemen... ORPHA:1488
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Broad ribs, Abnormal sternum morphology, Short ribs, Abnormality of t... ORPHA:2519
Phaver Syndrome
Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Broad hallux phalanx, Pterygium, Sho... ORPHA:2876
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Elbow dislocation,... ORPHA:3258
Renpenning Syndrome
Abnormal thumb morphology, Pectus excavatum, Sprengel anomaly, Abnormality of the ribs, Clinodact... ORPHA:3242
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of the ribs, Sprengel anomaly, Brachydactyly, Sandal gap ORPHA:2180
Antley-Bixler Syndrome
Camptodactyly of finger, Craniosynostosis, Narrow chest, Elbow ankylosis, Delayed cranial suture ... ORPHA:83
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the ribs, Abnormality of the humeroulnar joint ORPHA:2234
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the ribs, Clinodactyly of the 5th finger, Missing ribs, Arachnodactyly ORPHA:2759
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly OMIM:601076
Nestor-Guillermo Progeria Syndrome
Osteolytic defects of the distal phalanges of the hand, Delayed closure of the anterior fontanell... OMIM:614008
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Narrow chest, Forearm undergrowth, Absen... OMIM:251230
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of the ribs ORPHA:2772
Cleidocranial Dysplasia
Wormian bones, Genu valgum, Abnormal thumb morphology, Narrow chest, Abnormality of epiphysis mor... ORPHA:1452
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Hand polydactyly, Short phalanx of finger, Narrow chest, Metaphyseal irreg... OMIM:208500
Mucopolysaccharidosis Type 4
Genu valgum, Short thorax, Abnormality of epiphysis morphology, Pectus carinatum, Bowing of the l... ORPHA:582
Septopreoptic Holoprosencephaly
Abnormality of the ribs ORPHA:280195
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs ORPHA:93941
Spondylometaphyseal Dysplasia, Sedaghatian Type
Metaphyseal chondrodysplasia, Narrow chest, Short palm, Cone-shaped epiphysis, Iliac crest serrat... ORPHA:93317
X-Linked Hypophosphatemia
Genu valgum, Craniosynostosis, Sacroiliac joint synovitis, Flared iliac wing, Abnormality of epip... ORPHA:89936
Congenital Disorder Of Glycosylation, Type Iig
Abnormality of the ribs, Camptodactyly, Small hand, Short foot OMIM:611209
Pyknoachondrogenesis
Aplastic pubic bones, Short thorax, Short iliac bones, Enlarged thorax, Horizontal ribs, Abnormal... ORPHA:3003
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormality of the ribs, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Pectus car... ORPHA:3068
Oculocerebrocutaneous Syndrome
Hand polydactyly, Congenital hip dislocation, Finger syndactyly, Short distal phalanx of finger, ... ORPHA:1647
Poland Syndrome
Absent hand, Abnormal sternum morphology, Split hand, Unilateral brachydactyly, Abnormality of th... ORPHA:2911
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Preaxial hand polydactyly, Abnormal thumb morphology, Short distal phalanx of finger, Short thumb... ORPHA:1120
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Short thorax, Finger syndactyly, Rib segmentation abnormalities, Rib fus... ORPHA:2311
Holzgreve Syndrome
Abnormality of the ribs, Abnormality of the ulna, Hand polydactyly, Abnormality of the metacarpal... ORPHA:2167
Campomelia, Cumming Type
Bowing of the long bones, Abnormal thorax morphology, Clubbing of toes, Abnormality of the ribs, ... ORPHA:1318
Cole-Carpenter Syndrome
Wormian bones, Bowing of the long bones, Crumpled long bones, Abnormality of the metaphysis, Abno... ORPHA:2050
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Tarsal synostosis, Narrow chest, Elbow dislocation, Flared... ORPHA:90652
Trisomy 13
Postaxial hand polydactyly, Narrow chest, Abnormality of the ribs, Abnormality of pelvic girdle b... ORPHA:3378
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the long bones, Metaphyseal cupping, Limited elbow movement, Abnormality of the ribs, S... ORPHA:85167
Cartilage-Hair Hypoplasia
Limited elbow extension, Short thorax, Metaphyseal chondrodysplasia, Narrow chest, Abnormality of... ORPHA:175
Prune Belly Syndrome
Abnormality of the ribs, Pectus excavatum, Congenital hip dislocation ORPHA:2970
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Elbow flexion contracture, Barrel-shaped chest, Fem... OMIM:276820
Trisomy 1Q
Camptodactyly of finger, Short thorax, Preaxial hand polydactyly, Toe syndactyly, Abnormality of ... ORPHA:261344
Axial Mesodermal Dysplasia Spectrum
Abnormality of the ribs, Abnormality of pelvic girdle bone morphology, Abnormality of the knee, M... ORPHA:1834
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Finger syndactyly, Pectus excavatum, Metatarsus adductus, Ulnar deviatio... ORPHA:2215
Familial Osteodysplasia, Anderson Type
Elbow dislocation, Aplasia/hypoplasia of the femur, Abnormality of the ribs, Aplastic clavicle, C... ORPHA:2769
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Craniosynostosis, Tarsal synostosis, Narrow chest, Camptodactyly, Abnormality of the ribs, Elbow ... ORPHA:95699
Autosomal Dominant Popliteal Pterygium Syndrome
Toe syndactyly, Finger syndactyly, Split hand, Abnormality of the ribs, Popliteal pterygium ORPHA:1300
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the ribs, Aplasia/Hypoplasia involving the pelvis, Missing ribs ORPHA:3301
Radio-Renal Syndrome
Hypoplasia of the radius, Abnormality of the elbow, Abnormality of the ribs, Brachydactyly, Short... ORPHA:3015
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Abnormality of the ribs, Postaxial hand polydactyly, Hip dislocation, Unilateral chest hypoplasia OMIM:308205
Mosaic Trisomy 8
Camptodactyly of finger, Narrow chest, Patellar aplasia, Abnormality of the ribs, Clinodactyly of... ORPHA:96061
Schwartz-Jampel Syndrome
Hip dysplasia, Wormian bones, Genu valgum, Protrusio acetabuli, Elbow dislocation, Pectus carinat... ORPHA:800
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormality of tibia morphology, Abnormality of femur morphology, A... ORPHA:249
Aspergillosis
Abnormality of the ribs, Abnormality of long bone morphology ORPHA:1163
Alagille Syndrome
Abnormality of the ribs, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short distal pha... ORPHA:52
Vacterl/Vater Association
Abnormality of the ribs, Preaxial hand polydactyly, Aplasia/Hypoplasia of the radius, Finger synd... ORPHA:887
Osteogenesis Imperfecta
Wormian bones, Abnormality of long bone morphology, Abnormality of tibia morphology, Narrow chest... ORPHA:666
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Abnormality of epiphysis morphology, Abnor... ORPHA:93473
Myhre Syndrome
Large iliac wing, Abnormality of epiphysis morphology, Abnormality of the pubic bone, Abnormality... ORPHA:2588
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Craniosynostosis, Elbow dislocation, Abnormality of epiphysis morphology... ORPHA:2554
Dextrocardia
Abnormality of the ribs, Congenital hip dislocation ORPHA:1666
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Short foot, Abnormality of the ribs, Thickened cortex of long bones, Broad femoral neck ORPHA:488434
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Humeroradial synostosis, Short sternum, Short ribs, Short humerus, Thin... ORPHA:3404
Trisomy 18
Camptodactyly of finger, Postaxial hand polydactyly, Abnormal hip bone morphology, Abnormality of... ORPHA:3380
Monosomy 9Q22.3
Abnormality of the ribs, Pectus excavatum, Metopic synostosis, Polydactyly ORPHA:77301
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Broad thumb, Congenital hip dislo... ORPHA:373
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Finger syndactyly, Abnormality of the metacarpal bones, Abnormal hip bon... ORPHA:2907
Mucopolysaccharidosis Type 3
Hip dysplasia, Genu valgum, Abnormal clavicle morphology, Avascular necrosis of the capital femor... ORPHA:581
Smith-Lemli-Opitz Syndrome
Postaxial hand polydactyly, Finger syndactyly, Split hand, 2-3 toe syndactyly, Aplasia/Hypoplasia... ORPHA:818
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Narrow chest, Abnormality of epiphysis morphology, Bowing of the long bones, Ab... ORPHA:667
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Camptodactyly of finger, Finger syndactyly, Short 5th metacarpal, Abnormali... ORPHA:2908
Vater/Vacterl Association
Hypoplasia of the radius, Radioulnar synostosis, Abnormal sternum morphology, Preaxial polydactyl... OMIM:192350
Pagod Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:991
Monosomy 9P
Abnormality of the ribs, Proximal placement of thumb, Postaxial hand polydactyly, Abnormality of ... ORPHA:261112
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Joint swelling, Abnormality of epiphysis morphology, Abnormality of the metaphysis, ... ORPHA:534
Townes-Brocks Syndrome
Preaxial hand polydactyly, Broad thumb, Toe syndactyly, Broad hallux phalanx, Partial duplication... ORPHA:857
Alagille Syndrome 1
Abnormality of the ribs, Hypoplasia of the ulna, Short distal phalanx of finger OMIM:118450
Charge Syndrome
Abnormality of tibia morphology, Abnormality of the ribs, Clinodactyly of the 5th finger, Brachyd... ORPHA:138
Charge Syndrome
Hand polydactyly, Down-sloping shoulders, Hypoplasia of the ulna, Absent radius, Hand monodactyly... OMIM:214800

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 Hoxd8

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 Hoxd8.

No publications found that use IMPC mice or data for Hoxd8.

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MGI Allele Allele Type Produced
Hoxd8tm459029(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) Targeting vectors

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