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-5.4,  4921540P06Rik,  Hox-4.3

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
Osteoarthritis of the small joints of the hand, Costal cartilage calcification, Chondrocalcinosis... OMIM:118610
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... OMIM:617405
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
Clinodactyly of the 5th finger, Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology,... ORPHA:3268
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Anterior rib cupping, Missing ribs, Bowing of the long bones, Short ... ORPHA:1801
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Spina bifida occulta, Scoliosis ORPHA:2956
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Short ribs, Metaphyseal widening, Bell-shaped thorax, Narrow p... OMIM:187760
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho... OMIM:615633
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Cone-shaped epiphysis, B... ORPHA:474
Mesomelic Dysplasia, Kantaputra Type
Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormality of the humerus, Abnormality ... ORPHA:1836
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Short palm, Flared, irregular rib ends ORPHA:168555
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs, Osteoarthritis ORPHA:66630
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Short metacarpal, Osteoarthritis, Synostosis of carpal bones, Upper limb undergrowth, ... ORPHA:93351
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Hyperplasia of the femoral trochan... OMIM:156530
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum OMIM:602196
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Osteoarthritis, Broad femoral neck, Upper limb undergrowth, Enl... OMIM:271650
Endosteal Hyperostosis, Worth Type
Abnormal rib morphology, Clavicular sclerosis, Diaphyseal thickening ORPHA:2790
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sc... OMIM:608728
Heart Defects-Limb Shortening Syndrome
Abnormal rib morphology, Abnormal metaphysis morphology, Narrow chest ORPHA:1354
Hyperparathyroidism, Transient Neonatal
Narrow chest, Femoral bowing, Thin ribs, Short ribs OMIM:618188
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Axial Spondylometaphyseal Dysplasia
Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow greater sciatic n... ORPHA:168549
Spondylocostal Dysostosis 4, Autosomal Recessive
Rib fusion, Abnormal rib morphology, Missing ribs, Short thorax, Block vertebrae, Vertebral fusion OMIM:613686
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Synd... OMIM:173800
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Wormian bone... ORPHA:2097
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bo... OMIM:604922
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion, Slender finger, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:609813
Holt-Oram Syndrome
Sprengel anomaly, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, Down-sloping shou... ORPHA:392
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... OMIM:609616
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Metatropic Dysplasia
Narrow chest, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptodactyly of finger, Abn... ORPHA:2635
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Sprengel Deformity
Sprengel anomaly, Rib segmentation abnormalities OMIM:184400
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Metaphyseal cupping, Thin ribs, Short ribs, Hypoplastic ilia, Hypoplastic pubic bon... OMIM:151210
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Spondylocostal Dysostosis 5
Posterior rib fusion, Pectus carinatum, Missing ribs, Supernumerary ribs, Vertebral fusion OMIM:122600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Dislocated radial head, Knee dislocation, Thin ribs, Short femoral neck... OMIM:618395
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal rib morphology, Abnormal epiphysis morpholog... ORPHA:93267
Osteogenesis Imperfecta, Type Ix
Pectus excavatum, Wormian bones, Pectus carinatum, Short lower limbs, Beaded ribs OMIM:259440
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Abnormality of the ankles, Abnormal femoral head morphology, Hypoplasia of th... ORPHA:239
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal irregularity, Broad phalanx, Metaphyseal dysplasia, Metaphyseal cupping, Coxa vara, I... OMIM:250420
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Radioulnar synostosis, Hammertoe, Abnormal metac... ORPHA:2319
Diastrophic Dysplasia
Abnormal clavicle morphology, Joint dislocation, Camptodactyly of finger, Symphalangism affecting... ORPHA:628
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Hypoplastic iliac wing, Horizon... OMIM:200610
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Posterior rib cupping, Thoracic hypoplasia, Short long bone, Widely pa... OMIM:228520
Autosomal Dominant Spondylocostal Dysostosis
Abnormal rib morphology, Short thorax, Posterior rib fusion, Missing ribs ORPHA:1797
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Brac... OMIM:617895
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Coxa vara, Aplasia/Hypoplasia of the tibia, Short femur, Radioulnar... ORPHA:1988
Hypophosphatasia
Narrow chest, Craniosynostosis, Abnormal rib morphology, Bowing of the long bones, Abnormal metap... ORPHA:436
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... ORPHA:2345
Mosaic Trisomy 14
Abnormal rib morphology, Camptodactyly of finger, Narrow chest ORPHA:1703
Osteogenesis Imperfecta, Type Ii
Tibial bowing, Beaded ribs, Thin ribs, Wormian bones, Bell-shaped thorax, Thoracic hypoplasia, Br... OMIM:166210
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Anterior rib cupping, Short tubu... OMIM:184253
White Forelock With Malformations
Abnormal rib morphology, Sprengel anomaly, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:2475
Becker Nevus Syndrome
Rib fusion, Pectus excavatum, Abnormality of tibia morphology, Pectus carinatum, Supernumerary ribs ORPHA:64755
Fibrochondrogenesis
Narrow chest, Short ribs, Camptodactyly of finger, Brachydactyly, Bell-shaped thorax, Abnormal ri... ORPHA:2021
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Broad hallux phalanx, Aplasia/Hypo... ORPHA:3082
Achondrogenesis Type 1B
Abnormal rib morphology, Short thorax, Narrow chest, Short foot ORPHA:93298
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Abnormal rib morpho... ORPHA:2522
Melnick-Needles Syndrome
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... ORPHA:2484
Lethal Congenital Contracture Syndrome Type 1
Abnormal rib morphology, Abnormality of the elbow, Slender long bone, Abnormal hip bone morphology ORPHA:1486
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Brachydactyly, Abnormal rib morphology, Split hand, Finger syndactyly ORPHA:2145
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... OMIM:252600
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Small hand, Thin clavicles, Slender long bone, Short foot, Delayed clo... OMIM:244460
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Abnormal rib morphology ORPHA:2578
Achondrogenesis, Type Ia
Narrow chest, Bowing of the legs, Short clavicles, Short ribs, Hypoplasia of the radius, Barrel-s... OMIM:200600
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short humerus, Short femoral neck, Broad ribs, Prominent deltoid tub... OMIM:610319
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormal rib morphology, Abnormality of fibula morphology, Bowing o... ORPHA:3035
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Lateral clavicle hook, Short femur, Undulate ribs, Femoral bowing, ... OMIM:211350
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... OMIM:118100
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... OMIM:600002
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Metaphyseal spurs, Lateral clavicle hook, Short ribs, Postaxial p... OMIM:613091
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, 11 pairs of ribs, Short long bone, Metaphysea... OMIM:250220
Ellis-Van Creveld Syndrome
Narrow chest, Acetabular spurs, Short ribs, Cone-shaped epiphyses of phalanges 2 to 5, Pectus car... OMIM:225500
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Bro... ORPHA:2519
Cenani-Lenz Syndrome
Finger syndactyly, Hypoplasia of the radius, Synostosis of carpal bones, Short thumb, Radioulnar ... ORPHA:3258
Renpenning Syndrome
Sprengel anomaly, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphology, Abno... ORPHA:3242
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Camptodactyly of finger, Abnormal rib morphology, Missing ribs, Pro... ORPHA:1488
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Ulnar deviation of finger, Abnormal rib morphology... ORPHA:2876
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Abnormal rib morphology ORPHA:2234
Antley-Bixler Syndrome
Narrow chest, Elbow ankylosis, Craniosynostosis, Arachnodactyly, Femoral bowing, Delayed cranial ... ORPHA:83
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Clinodactyly of the 5th finger, Missing ribs, Abnormal rib morphology ORPHA:2759
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal rib morphology, Sprengel anomaly, Brachydactyly, Sandal gap ORPHA:2180
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormal rib morphology, Sprengel anomaly OMIM:601076
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow chest, Craniosynostosis, Short tibia, Abnormal rib morphology, Oligod... OMIM:251230
Cleidocranial Dysplasia
Narrow chest, Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Down-sloping shoulders,... ORPHA:1452
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Later... OMIM:208500
Mucopolysaccharidosis Type 4
Joint dislocation, Pectus carinatum, Abnormal rib morphology, Genu valgum, Abnormal epiphysis mor... ORPHA:582
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Posterior ri... OMIM:300106
Van Den Ende-Gupta Syndrome
Pectus excavatum, Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Lon... OMIM:600920
Septopreoptic Holoprosencephaly
Abnormal rib morphology ORPHA:280195
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology ORPHA:93941
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Abnormal rib morphology, Abnormal thumb morphology, ... ORPHA:1120
Congenital Disorder Of Glycosylation, Type Iig
Abnormal rib morphology, Small hand, Short foot, Camptodactyly OMIM:611209
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Abnormal scapula morphology, Cone-shaped epiphysis, Iliac crest serration, Abnormal... ORPHA:93317
Autosomal Recessive Spondylocostal Dysostosis
Rib fusion, Camptodactyly of finger, Abnormal rib morphology, Short thorax, Rib segmentation abno... ORPHA:2311
X-Linked Hypophosphatemia
Bowing of the legs, Trapezoidal distal femoral condyles, Flared iliac wing, Craniosynostosis, Upp... ORPHA:89936
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal rib morphology, Clinodactyly of the 5th finger, Pectus carinatum, Abnormal hip bone morp... ORPHA:3068
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Abnormal rib morphology, Missing ribs... ORPHA:1647
Pyknoachondrogenesis
Enlarged thorax, Abnormal iliac wing morphology, Short ribs, Hypoplastic ischia, Aplastic pubic b... ORPHA:3003
Poland Syndrome
Cone-shaped epiphysis, Abnormality of the humerus, Pectus carinatum, Sprengel anomaly, Short ribs... ORPHA:2911
Cole-Carpenter Syndrome
Wormian bones, Abnormal rib morphology, Bowing of the long bones, Abnormal metaphysis morphology,... ORPHA:2050
Holzgreve Syndrome
Abnormal rib morphology, Abnormal metacarpal morphology, Abnormal morphology of ulna, Hand polyda... ORPHA:2167
Campomelia, Cumming Type
Brachydactyly, Abnormal thorax morphology, Abnormal rib morphology, Bowing of the long bones, Clu... ORPHA:1318
Trisomy 13
Narrow chest, Ectrodactyly, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic ... ORPHA:3378
Otopalatodigital Syndrome Type 2
Narrow chest, Carpal synostosis, Flared iliac wing, Abnormal vertebral segmentation and fusion, P... ORPHA:90652
Prune Belly Syndrome
Abnormal rib morphology, Pectus excavatum, Congenital hip dislocation ORPHA:2970
Cartilage-Hair Hypoplasia
Narrow chest, Tibial bowing, Metaphyseal dysplasia, Metaphyseal chondrodysplasia, Abnormal hip bo... ORPHA:175
Trisomy 1Q
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Short thorax, Preaxial hand pol... ORPHA:261344
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Barrel-shaped chest... OMIM:276820
Axial Mesodermal Dysplasia Spectrum
Abnormal rib morphology, Abnormality of the knee, Missing ribs, Abnormal pelvic girdle bone morph... ORPHA:1834
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Arachnodactyly, Prominent metopic ridge, Camptodactyly of finger, Tapered finge... ORPHA:2215
Familial Osteodysplasia, Anderson Type
Clinodactyly of the 5th finger, Aplastic clavicle, Aplasia/hypoplasia of the femur, Abnormal rib ... ORPHA:2769
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bone... ORPHA:95699
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Abnormal rib morphology, Split hand, Finger syndactyly, Toe syndactyly ORPHA:1300
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Postaxial hand polydactyly, Hip dislocation, Unilateral chest hypoplasia, Abnormal rib morphology OMIM:308205
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Missing ribs, Aplasia/Hypoplasia involving the pelvis ORPHA:3301
Radio-Renal Syndrome
Hypoplasia of the radius, Brachydactyly, Abnormal rib morphology, Abnormality of the elbow, Short... ORPHA:3015
Mosaic Trisomy 8
Narrow chest, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormal rib morphology, N... ORPHA:96061
Aspergillosis
Abnormal rib morphology, Abnormal long bone morphology ORPHA:1163
Schwartz-Jampel Syndrome
Sprengel anomaly, Coxa vara, Pectus excavatum, Hip dysplasia, Wormian bones, Pectus carinatum, Pr... ORPHA:800
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Abnormal rib morphology, Narrow pelvis bon... ORPHA:93473
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Coxa vara, Abnormal clavicle morphology, Abnormal morphology of ... ORPHA:249
Alagille Syndrome
Hypoplasia of the ulna, Short distal phalanx of finger, Clinodactyly of the 5th finger, Abnormal ... ORPHA:52
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Abnormal rib morp... ORPHA:887
Osteogenesis Imperfecta
Abnormality of femur morphology, Pectus excavatum, Femoral bowing, Pectus carinatum, Genu valgum,... ORPHA:666
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Broad femoral neck, Abnormal rib morphology, Short foot, Thickened cortex of long bones ORPHA:488434
Myhre Syndrome
Large iliac wing, Abnormality of the pubic bone, Brachydactyly, Abnormal rib morphology, Abnormal... ORPHA:2588
Dextrocardia
Abnormal rib morphology, Congenital hip dislocation ORPHA:1666
Ear-Patella-Short Stature Syndrome
Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Slender long bone, Apl... ORPHA:2554
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypoplasi... ORPHA:3404
Trisomy 18
Abnormal hip bone morphology, Camptodactyly of finger, Deviation of finger, Postaxial hand polyda... ORPHA:3380
Monosomy 9Q22.3
Abnormal rib morphology, Metopic synostosis, Pectus excavatum, Polydactyly ORPHA:77301
Hereditary Acrokeratotic Poikiloderma
Abnormal hip bone morphology, Camptodactyly of finger, Abnormal rib morphology, Abnormal metacarp... ORPHA:2907
Simpson-Golabi-Behmel Syndrome
Short toe, Clinodactyly of the 5th finger, Short 2nd finger, Pectus excavatum, Camptodactyly of f... ORPHA:373
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Craniosynostosis, Abnormal rib morphology, Abnormal epiphysis morphology, Bowing of... ORPHA:667
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Abnormal rib m... ORPHA:581
Smith-Lemli-Opitz Syndrome
2-3 toe syndactyly, Split hand, Brachydactyly, Ulnar deviation of finger, Abnormal rib morphology... ORPHA:818
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Abnormal rib morphology, Short 4th metacarpal, Short 5th metacarpal, Fin... ORPHA:2908
Vater/Vacterl Association
Abnormal sternum morphology, Hypoplasia of the radius, Preaxial polydactyly, Syndactyly, Short th... OMIM:192350
Pagod Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:991
Monosomy 9P
Postaxial hand polydactyly, Abnormality of the tarsal bones, Proximal placement of thumb, Abnorma... ORPHA:261112
Oculocerebrorenal Syndrome Of Lowe
Joint swelling, Arthritis, Abnormal rib morphology, Genu valgum, Abnormal epiphysis morphology, A... ORPHA:534
Townes-Brocks Syndrome
Clinodactyly of the 5th finger, Toe clinodactyly, Partial duplication of thumb phalanx, Broad hal... ORPHA:857
Charge Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Abnormality of tibia morphology, Abnormal rib morp... ORPHA:138
Alagille Syndrome 1
Hypoplasia of the ulna, Short distal phalanx of finger, Abnormal rib morphology OMIM:118450
Charge Syndrome
Absent tibia, Hand polydactyly, Absent radius, Down-sloping shoulders, Abnormal rib morphology, H... 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) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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