Not currently registered for phenotyping at IMPC

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

Gene Summary

homeobox D1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Hoxd1 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 Hoxd1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Scheuermann Disease
Osteochondrosis, Morbus Scheuermann, Kyphosis OMIM:181440
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae ORPHA:1436
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abn... ORPHA:2064
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Scoliosis, Short neck, Fused cervical vertebrae, Flexion contracture, T... OMIM:618469
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae, Prominent metopic ridge OMIM:309620
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Short neck OMIM:214300
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Primary Basilar Invagination
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck ORPHA:2285
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Butterfly vertebrae, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Multiple Synostoses Syndrome 2
Vertebral fusion, Proximal symphalangism, Finger symphalangism, Carpal synostosis, Humeroradial s... OMIM:610017
Increased bone mineral density, Scoliosis, Kyphosis, Sclerotic vertebral body, Abnormal form of t... ORPHA:2777
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Abnormal ... ORPHA:2345
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Short neck, Hemivertebrae, Back pain, Vert... OMIM:277300
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Restricted large joint movement, Abnormal vertebral morph... ORPHA:163665
Osteoarthritis With Mild Chondrodysplasia
Knee osteoarthritis, Joint stiffness, Irregular vertebral endplates, Schmorl's node, Platyspondyl... OMIM:604864
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Short neck, Thoracolumbar scoliosis, Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Flexi... OMIM:616549
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Fused cervical vertebrae, Hyperlordosis, Short neck ORPHA:2522
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Spondylocostal Dysostosis 5
Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Hemivertebrae OMIM:122600
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Acrodysplasia Scoliosis
Scoliosis, Spina bifida occulta, Vertebral segmentation defect ORPHA:2956
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Osteoarthritis, Spondylolisthesis, Spina bifida occulta OMIM:184300
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Scoliosis, Thoracic kyphosis ORPHA:530983
Fibrodysplasia Ossificans Progressiva
Scoliosis, Ectopic ossification in tendon tissue, Progressive cervical vertebral spine fusion, Ec... OMIM:135100
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly ORPHA:93304
Brachyolmia Type 2
Platyspondyly OMIM:613678
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal vertebral segmentation and fusion, Short neck OMIM:118100
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... ORPHA:66637
Osteogenesis Imperfecta, Type Vi
Vertebral compression fracture, Protrusio acetabuli, Beaking of vertebral bodies, Joint laxity, I... OMIM:613982
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Vertebral fusion, Sacral dimple OMIM:618845
Kniest Dysplasia
Abnormal joint morphology, Anterior vertebral fusion, Cervical spine instability, Short neck, Cor... ORPHA:485
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral clefting, Vertebral segmentation defect, Short neck OMIM:608681
Chromosome 8Q22.1 Duplication Syndrome
Joint stiffness, Genu recurvatum, Cubitus valgus, Interphalangeal joint contracture of finger, Li... OMIM:151200
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Contracture of the proximal in... OMIM:609813
Brachydactyly, Type B1
Camptodactyly, Vertebral fusion, Thoracolumbar scoliosis, Wide anterior fontanel, Delayed cranial... OMIM:113000
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Frontometaphyseal Dysplasia 1
Craniosynostosis, Camptodactyly of finger, Scoliosis, Increased density of long bone diaphyses, W... OMIM:305620
Ehlers-Danlos Syndrome, Classic-Like, 2
Hip dislocation, Generalized joint laxity, Short neck, Osteoporosis, Osteoarthritis, Shoulder dis... OMIM:618000
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Thoracic hemivertebrae, Thoracolumbar scoliosis... OMIM:601344
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Osteopenia, Osteomyelitis, Fused cervical vertebrae OMIM:612852
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Craniosynostosis, Camptodactyly, Scoliosis, Vertebral fusion, Short neck, Knee flexion contractur... OMIM:178110
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Butterfly vertebrae, Spina bifida occulta OMIM:619227
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Hip dislocation, Intercrural pterygium, Popliteal pterygium, Camptodactyly of toe, Pat... OMIM:265000
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Hip dislocation, Genu varum, Patellar dislocation, Aplasia/Hypoplasia of the patella, ... ORPHA:3320
Shashi-Pena Syndrome
Scoliosis, Osteoporosis, Kyphosis, Accelerated skeletal maturation, Cervical C2/C3 vertebral fusion OMIM:617190
Idiopathic Juvenile Osteoporosis
Osteoporosis, Bone pain, Kyphosis, Vertebral compression fracture, Recurrent fractures ORPHA:85193
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis ORPHA:313892
Arnold-Chiari Malformation Type I
Stiff neck, Scoliosis, Fused cervical vertebrae, Anteriorly placed odontoid process, Cervical C2/... ORPHA:268882
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar scoliosis, Lumbar hyperlordosis, Cervical C2/C3 vertebral fusion OMIM:617796
Mosaic Trisomy 20
Scoliosis, Vertebral fusion, Limited pronation/supination of forearm, Kyphosis, Spinal canal sten... ORPHA:1724
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Vertebral fusion, Hypoplastic vertebral bodies, Kyphosis, Patellar dislocation, Hemive... ORPHA:2916
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Flat acetabular roof, Wormian bones OMIM:617159
Thakker-Donnai Syndrome
Hemivertebrae, Cervical C2/C3 vertebral fusion, Short neck ORPHA:1780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Vertebral fusion, Kyphosis, Elbow contracture, Achilles tendon contracture, Hyperlordosis OMIM:606612
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Joint dislocation, Multiple pterygia, Increased su... OMIM:312150
Gorlin Syndrome
Vertebral wedging, Scoliosis, Vertebral fusion, Hemivertebrae ORPHA:377
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Scoliosis, Vertebral fusion, Short neck, Hemivertebrae, Spin... OMIM:613686
Low back pain, Vertebral fusion, Arthropathy, Limited shoulder movement, Kyphosis, Arthritis, Lim... OMIM:203500
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae ORPHA:1445
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Hyperlordosis OMIM:607155
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Abnormal vertebral segmentation and f... ORPHA:90650
Frontometaphyseal Dysplasia
Craniosynostosis, Camptodactyly of finger, Scoliosis, Wrist flexion contracture, Dislocated radia... ORPHA:1826
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Joint dislocation, Multiple pterygia, Increased su... OMIM:253290
Kbg Syndrome
Scoliosis, Vertebral fusion, Thoracic kyphosis, Persistent open anterior fontanelle, Short neck, ... ORPHA:2332
Atelosteogenesis, Type I
Short neck, Coronal cleft vertebrae, Thoracic platyspondyly, Knee dislocation, Fused cervical ver... OMIM:108720
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Vertebral wedging, Biconvex vertebral bodies, Increased susceptibility to fractures, I... ORPHA:93315
Verheij Syndrome
Scoliosis, Hip dislocation, Vertebral fusion, Short neck, Hemivertebrae, Joint laxity OMIM:615583
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Scoliosis, Spina bifida occulta, Shoulder dislocation OMIM:607323
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect ORPHA:87
Apert Syndrome
Craniosynostosis, Coronal craniosynostosis, Synostosis of carpal bones, Delayed cranial suture cl... OMIM:101200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic hemivertebrae, Hip dislocation, Cervical hemivertebrae, Thoracic kyphosis, Short neck, G... ORPHA:508498
Chops Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia OMIM:616368
Aarskog-Scott Syndrome
Camptodactyly of finger, Short neck, Genu recurvatum, Abnormal vertebral segmentation and fusion,... ORPHA:915
Frontometaphyseal Dysplasia 2
Camptodactyly, Scoliosis, Congenital hip dislocation, Dislocated radial head, Elbow contracture, ... OMIM:617137
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Scoliosis, Vertebral fusion, Short neck, Carpal synostosis, Block verteb... OMIM:272460
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Hemivertebrae, Block vertebrae OMIM:271520
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Herniation of intervertebral nuclei, Scoliosis, Carpal synostosis,... OMIM:157800
Caudal Regression Syndrome
Scoliosis, Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fus... ORPHA:3027
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Larsen Syndrome
Spondylolysis, Tracheomalacia, Scoliosis, Vertebral fusion, Hip dislocation, Multiple carpal ossi... OMIM:150250
Thrombocytopenia-Absent Radius Syndrome
Patellar aplasia, Hip dislocation, Genu varum, Patellar dislocation, Carpal synostosis, Carpal bo... OMIM:274000
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Anterior vertebral fusion, Genu varum, Shoulder dislocation, Radioulnar synostosis, Elbow disloca... OMIM:171480
Lateral Meningocele Syndrome
Scoliosis, Vertebral fusion, Short neck, Kyphosis, Wormian bones, Sclerosis of skull base, Joint ... OMIM:130720
Chromosome 16P13.3 Duplication Syndrome
Camptodactyly, Hip dislocation, Short neck, Sacral dimple, Cervical C5/C6 vertebrae fusion, Trach... OMIM:613458
Koolen-De Vries Syndrome
Scoliosis, Hip dislocation, Vertebral fusion, Kyphosis, Joint hyperflexibility, Vertebral segment... ORPHA:96169
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Fused cervical vertebrae, Coronal craniosynostosis, Cleft vertebral arch, Contracture of the dist... ORPHA:83617
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Tracheomalacia, Wormian bones, Hip subluxation, Cervical C2/C3 vertebral fusion, Abnormal vertebr... ORPHA:444077
Koolen-De Vries Syndrome
Scoliosis, Vertebral fusion, Hip dislocation, Prominent metopic ridge, Sacral dimple, Kyphosis, S... OMIM:610443
Basal Cell Nevus Syndrome 1
Scoliosis, Vertebral fusion, Vertebral wedging, Hemivertebrae, Irregular ossification of hand bon... OMIM:109400
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Short neck, Vertebral arch anomaly, Delayed skeletal maturation OMIM:148050
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion OMIM:211380
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Vertebral fusion, Thoracic hemivertebrae, Short neck, Thoracolumbar scoliosis, Wide an... OMIM:268310
Microphthalmia, Syndromic 3
Hemivertebrae, Butterfly vertebrae, Vertebral fusion, Vertebral hypoplasia OMIM:206900
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Scoliosis, Synostosis of carpal bones, C... ORPHA:90652
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Craniosynostosis, Scoliosis, Vertebral fusion, Short neck, Sacral dimple, Hemivertebrae, Beaking ... OMIM:213980
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Abnormality of the knee, Abnormal hip joint morpholog... ORPHA:51608
Duane Retraction Syndrome
Camptodactyly, Short neck, Abnormal vertebral segmentation and fusion, Spina bifida occulta, Abno... ORPHA:233
Faciodigitogenital Syndrome, Autosomal Recessive
Camptodactyly, Vertebral fusion, Hyperextensible hand joints OMIM:227330
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Myhre Syndrome
Camptodactyly, Vertebral fusion, Joint stiffness, Short neck, Platyspondyly, Limitation of joint ... OMIM:139210
Aicardi Syndrome
Scoliosis, Block vertebrae, Butterfly vertebrae ORPHA:50
Aicardi Syndrome
Hemivertebrae, Scoliosis, Block vertebrae, Butterfly vertebrae OMIM:304050
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Scoliosis, Vertebral fusion, Congenital hip dislocation, Short neck, Acc... ORPHA:373
Wolf-Hirschhorn Syndrome
Scoliosis, Vertebral fusion, Hip dislocation, Sacral dimple, Kyphosis, Radioulnar synostosis, Abn... OMIM:194190
Robinow Syndrome
Fused thoracic vertebrae, Scoliosis, Hemivertebrae, Radioulnar dislocation, Kyphoscoliosis ORPHA:97360
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae OMIM:306955
Craniofacial Microsomia
Scoliosis, Hemivertebrae, Genu valgum, Vertebral hypoplasia, Block vertebrae OMIM:164210


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 Hoxd1

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 Hoxd1.

No publications found that use IMPC mice or data for Hoxd1.

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.

The IMPC Newsletter

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

Subscribe to newsletter