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
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Antecubital pterygiu... OMIM:618469
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process... OMIM:277300
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae ORPHA:1436
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Wildervanck Syndrome
Pseudopapilledema, Facial palsy, Short neck, Fused cervical vertebrae ORPHA:3456
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Stillbirth, Increased bone mineral density OMIM:265880
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Short neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion OMIM:214300
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormal cranial nerve morphology, Abnormality of the vertebral column, Cervical C2/C3... ORPHA:2345
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
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
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Glossopharyngeal Neuralgia
Schwannoma, Abnormal glossopharyngeal nerve morphology, Abnormality of the cervical spine, Crania... ORPHA:221098
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Acetabular dysplas... OMIM:616549
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Optic atrophy, Fused cervical vertebrae ORPHA:530983
Arnold-Chiari Malformation Type I
Scoliosis, Anteriorly placed odontoid process, Cranial nerve compression, Cervical C2/C3 vertebra... ORPHA:268882
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Short neck, Fused cervical vertebrae ORPHA:2522
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Ectopic ossification in muscle tissue, Ectopic ossifi... OMIM:135100
Kniest Dysplasia
Platyspondyly, Arthropathy, Enlarged joints, Flexion contracture of finger, Coronal cleft vertebr... ORPHA:485
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Anteriorly placed odontoid process, Partial fusi... OMIM:305620
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Synostosis of carpals/tarsals, Carpal synostosis, Fus... OMIM:157800
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Death in infancy, Vertebral segmentation defect, Sacral dimple OMIM:618845
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Block... OMIM:613686
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Craniosynostosis, Tarsal synost... OMIM:178110
Tick-Borne Encephalitis
Abnormal cranial nerve morphology, Back pain, Abnormal autonomic nervous system physiology, Abnor... ORPHA:297
Bilateral Polymicrogyria
Arthrogryposis multiplex congenita, Abnormal glossopharyngeal nerve morphology, Facial diplegia ORPHA:268940
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Spondylocostal Dysostosis 5
Scoliosis, Low back pain, Hemivertebrae, Vertebral fusion, Short neck, Butterfly vertebrae OMIM:122600
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Short neck, Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion OMIM:118100
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Vertebral segmentation defect OMIM:221950
Atelosteogenesis, Type I
Stillbirth, Elbow dislocation, Coronal cleft vertebrae, Thoracic platyspondyly, Neonatal death, S... OMIM:108720
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Dislocated radial head, Axillary pterygium, Arthrogryposis multiplex congenita, Anteri... OMIM:265000
Brachydactyly, Type B1
Hypoplastic sacrum, Camptodactyly, Hemivertebrae, Vertebral fusion, Delayed cranial suture closur... OMIM:113000
Fanconi Anemia, Complementation Group I
Short neck, Optic nerve hypoplasia, Fused cervical vertebrae OMIM:609053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion, Facial palsy OMIM:606612
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lumbar platyspondyly, Absent ossification of cervical vertebral bodies, Absent ossification of ca... OMIM:601376
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Osteopenia, Fused cervical vertebrae, Osteomyelitis OMIM:612852
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion, Optic atrophy, Butter... ORPHA:313892
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Hip dislocation, Short neck OMIM:615583
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Genu varum, Hip dislocati... ORPHA:3320
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae OMIM:619227
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Dislocated radial head, Craniosynostosis, Camptodactyly of fin... ORPHA:1826
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Generalized joint laxity, Thoracic kyphosis, Hypermobility of interphalan... ORPHA:508498
Mosaic Trisomy 20
Scoliosis, Kyphosis, Vertebral segmentation defect, Vertebral fusion, Spinal canal stenosis, Fuse... ORPHA:1724
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Elbow dislocation, Abnormal form of the vertebral bodies, Kyphosis, Hemivertebrae, Ver... ORPHA:2916
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Vertebral fusion, Short neck, ... ORPHA:2332
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Elbow dislocation, Increased bone mineral density, Abnormal vertebral... ORPHA:90650
Duane-Radial Ray Syndrome
Scoliosis, Aganglionic megacolon, Facial palsy, Spina bifida occulta, Fused cervical vertebrae OMIM:607323
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae ORPHA:1780
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Optic atrophy, Vertebral segmentation defect ORPHA:87
Thrombocytopenia-Absent Radius Syndrome
Carpal bone hypoplasia, Death in infancy, Carpal synostosis, Hip dislocation, Genu varum, Patella... OMIM:274000
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Increased ... OMIM:312150
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Gorlin Syndrome
Scoliosis, Vertebral wedging, Vertebral fusion, Hemivertebrae ORPHA:377
Ring Chromosome 21 Syndrome
Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Increased ... OMIM:253290
Apert Syndrome
Humeroradial synostosis, Synostosis of carpal bones, Delayed cranial suture closure, Coronal cran... OMIM:101200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Aarskog-Scott Syndrome
Camptodactyly of finger, Genu recurvatum, Joint hyperflexibility, Abnormal vertebral segmentation... ORPHA:915
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Hemivertebrae, Vertebral fusion, Spinal canal stenosis, Kyphoscoliosis, Hypopl... OMIM:263540
Frontometaphyseal Dysplasia 2
Scoliosis, Dislocated radial head, Congenital hip dislocation, Camptodactyly, Hip contracture, Fu... OMIM:617137
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Delayed skeletal maturation, Vertebral arch anomaly OMIM:148050
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Hemivertebrae, Vertebral fusion, Optic nerve hypoplasia, Butterfly vertebrae OMIM:206900
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Kyphosis, Vertebral fu... OMIM:130720
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Hyperlordosis, Limited elbow extension, Tarsal synostosis, C2-C3 subluxation, Capitate... OMIM:272460
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Hemivertebrae, Vertebral fusion, Block vertebrae, Short neck OMIM:271520
Caudal Regression Sequence
Scoliosis, Joint stiffness, Abnormal vertebral segmentation and fusion, Hypoplastic vertebral bod... ORPHA:3027
Koolen-De Vries Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Vertebral fusion, Hip dislocation, Vertebral segment... ORPHA:96169
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Contracture of the distal interphalangeal joint of the fingers, Fused cervical vertebrae, Cleft v... ORPHA:83617
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Radioulnar synostosis, Elbow dislocation, Shoulder dislocation, Genu varum, Anterior vertebral fu... OMIM:171480
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Wormian bones, Hip subluxation, Abnormal vertebral morphology ORPHA:444077
Charcot-Marie-Tooth Disease Type 4C
Abnormality of the vertebral column, Abnormal motor nerve conduction velocity, Vertebral fusion, ... ORPHA:99949
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, Synostosis of carpal bo... ORPHA:90652
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Kyphosis, Sacral dimple, Spondylolisthesis, Vertebral fusion, Hip... OMIM:610443
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Hemivertebrae, Vertebral fusion, Kyphoscoliosis,... OMIM:109400
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Abnormal hip joint morphology, Hypo... ORPHA:51608
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Thoracic hemivertebrae, Vertebral fusion, Delayed cranial suture c... OMIM:268310
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Short neck, Vertebral fusion, Hemivertebrae ORPHA:94095
Acro-Renal-Ocular Syndrome
Optic disc coloboma, Aganglionic megacolon, Vertebral fusion, Vertebral segmentation defect ORPHA:959
Aicardi Syndrome
Scoliosis, Optic disc coloboma, Block vertebrae, Optic atrophy, Butterfly vertebrae ORPHA:50
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Camptodactyly, Abnormal vertebral segmentation and fusion,... ORPHA:233
Aicardi Syndrome
Scoliosis, Hemivertebrae, Block vertebrae, Optic atrophy, Butterfly vertebrae OMIM:304050
Simpson-Golabi-Behmel Syndrome
Scoliosis, Accelerated skeletal maturation, Camptodactyly of finger, Congenital hip dislocation, ... ORPHA:373
Myhre Syndrome
Platyspondyly, Camptodactyly, Enlarged vertebral pedicles, Vertebral fusion, Joint stiffness, Sho... OMIM:139210
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Camptodactyly, Hyperextensible hand joints OMIM:227330
Hemifacial Microsomia
Vertebral hypoplasia, Block vertebrae, Hemivertebrae OMIM:164210
Robinow Syndrome
Scoliosis, Radioulnar dislocation, Fused thoracic vertebrae, Hemivertebrae, Kyphoscoliosis ORPHA:97360
Wolf-Hirschhorn Syndrome
Scoliosis, Radioulnar synostosis, Abnormal form of the vertebral bodies, Abnormal sternal ossific... OMIM:194190


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.

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MGI Allele Allele Type Produced
Hoxb3tm370740(L1L2_Bact_P) Targeting vectors

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