Not currently registered for phenotyping at IMPC

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

Gene Summary

homeobox B3

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 Hoxb3 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 Hoxb3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures OMIM:611369
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema OMIM:314600
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema, Facial palsy, Short neck ORPHA:3456
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis OMIM:309620
Increased bone mineral density, Stillbirth OMIM:265880
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Lethal Congenital Contracture Syndrome 8
Death in infancy, Flexion contracture, Facial diplegia, Distal arthrogryposis, Peripheral hypomye... OMIM:616287
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scoliosis, Cervical ... ORPHA:2345
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Abnormality of the cervica... ORPHA:221098
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... OMIM:616549
Arnold-Chiari Malformation Type I
Stiff neck, Cranial nerve compression, Abnormality of the twelfth cranial nerve, Abnormality of t... ORPHA:268882
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Optic atrophy, Thoracic kyphosis, Scoliosis ORPHA:530983
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... ORPHA:485
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Vertebral segmentation defect OMIM:618845
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Frontometaphyseal Dysplasia 1
Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C... OMIM:305620
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck OMIM:118100
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi... OMIM:618000
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae OMIM:122600
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Bilateral Polymicrogyria
Arthrogryposis multiplex congenita, Facial diplegia, Abnormal glossopharyngeal nerve morphology ORPHA:268940
Tick-Borne Encephalitis
Back pain, Stiff neck, Facial palsy, Limb pain, Abnormal glossopharyngeal nerve morphology, Polyn... ORPHA:297
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost... OMIM:178110
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... ORPHA:66637
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Multiple joint dislocation, Neonatal death, Tracheomalacia OMIM:245650
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join... OMIM:113000
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, Scoliosis, Butter... ORPHA:313892
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Optic nerve hypoplasia, Short neck OMIM:609053
Atelosteogenesis, Type I
Short neck, Thoracic platyspondyly, Elbow dislocation, Knee dislocation, Fused cervical vertebrae... OMIM:108720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Kyphosis, Achilles tendon contr... OMIM:606612
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling OMIM:612852
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Shashi-Pena Syndrome
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion OMIM:617190
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... ORPHA:252164
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio... ORPHA:3320
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Kyphosis, Axonal degeneration, Abnormal sensory nerve conduction velocity, Scolios... ORPHA:88628
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae OMIM:619227
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Verheij Syndrome
Joint laxity, Vertebral fusion, Optic nerve hypoplasia, Short neck, Hemivertebrae, Hip dislocatio... OMIM:615583
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Cervical hemivertebrae, Facial palsy, Optic nerve hypoplasia, Short neck, Gen... ORPHA:508498
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Fused cervical vertebrae, Flat acetabular roof OMIM:617159
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Duane-Radial Ray Syndrome
Aganglionic megacolon, Facial palsy, Fused cervical vertebrae, Shoulder dislocation, Scoliosis, S... OMIM:607323
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T... ORPHA:2332
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... ORPHA:90650
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... ORPHA:2916
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo... ORPHA:93315
Apert Syndrome
Vertebral segmentation defect, Optic atrophy, Cervical C5/C6 vertebrae fusion ORPHA:87
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra... OMIM:613686
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Apert Syndrome
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... OMIM:101200
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1445
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis ORPHA:377
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion, Optic atrophy OMIM:616368
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexibility, Abnormal vertebral ... ORPHA:915
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Elbow contracture, Fused cervical vertebrae, Scolios... OMIM:617137
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma... ORPHA:168563
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Patellar aplasia, Hip dislocation, Fused cervical vertebrae, Patellar dislocati... OMIM:274000
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Fused cervical vertebrae, Fusion of... OMIM:157800
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th... OMIM:272460
Larsen Syndrome
Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Dislocated wrist, Accessory... OMIM:150250
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Short neck, Hip dislocation, Cervical C5/C6 vertebrae fusion, Camptodactyly, Trach... OMIM:613458
Caudal Regression Syndrome
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scoliosis, Abnor... ORPHA:3027
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae OMIM:271520
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian bones, Biconc... OMIM:130720
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral segmentation defec... ORPHA:96169
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Genu v... OMIM:171480
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Tracheomalacia, Cervical C2/C3 vertebral fusion, Abnormal vertebral morphology, Hi... ORPHA:444077
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Fused cervical vertebrae, Coronal craniosynostosis, Contracture of the distal interphalangeal joi... ORPHA:83617
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Hip dislocation, Scoliosis, J... OMIM:610443
Microphthalmia, Syndromic 3
Vertebral fusion, Optic nerve aplasia, Optic nerve hypoplasia, Hemivertebrae, Butterfly vertebrae... OMIM:206900
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Increased cup-to-disc ratio OMIM:211380
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Sc... ORPHA:90652
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Craniosynostosis, Short... OMIM:213980
Robinow Syndrome, Autosomal Recessive 1
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Delayed ... OMIM:268310
Basal Cell Nevus Syndrome 1
Vertebral fusion, Kyphoscoliosis, Irregular ossification of hand bones, Hemivertebrae, Vertebral ... OMIM:109400
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical... ORPHA:51608
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect, Optic disc coloboma, Aganglionic megacolon ORPHA:959
Kbg Syndrome
Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Thoracic kyphosis OMIM:148050
Aicardi Syndrome
Block vertebrae, Optic disc coloboma, Hemivertebrae, Optic atrophy, Scoliosis, Butterfly vertebrae OMIM:304050
Aicardi Syndrome
Block vertebrae, Optic disc coloboma, Optic atrophy, Scoliosis, Butterfly vertebrae ORPHA:50
Duane Retraction Syndrome
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... ORPHA:233
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Death in infancy, Congenital hip dislocation, Camptodactyly of finger, Accelera... ORPHA:373
Myhre Syndrome
Vertebral fusion, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged vertebral p... OMIM:139210
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Hyperextensible hand joints, Camptodactyly OMIM:227330
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Delayed skeletal maturation, Hip dislocation, Abnormal... OMIM:194190
Robinow Syndrome
Fused thoracic vertebrae, Kyphoscoliosis, Hemivertebrae, Scoliosis ORPHA:97360
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae OMIM:306955
Craniofacial Microsomia 1
Block vertebrae, Hemivertebrae, Genu valgum, Scoliosis, Vertebral hypoplasia 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 Hoxb3

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 Hoxb3.

No publications found that use IMPC mice or data for Hoxb3.

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.

MGI Allele Allele Type Produced
Hoxb3tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hoxb3tm370740(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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