Gene Summary

USH1 protein network component harmonin binding protein 1
2210404N08Rik,  MCC2

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
vertebral fusion Ushbp1tm1a(EUCOMM)Wtsi HOM Early adult 1.31×10-05

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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.

DSS Histology


6 Images


XRay Images Skull Lateral Orientation

14 Images


XRay Images Whole Body Dorso Ventral

14 Images


XRay Images Whole Body Lateral Orientation

14 Images


XRay Images Skull Dorso Ventral Orientation

15 Images


XRay Images Forepaw

14 Images

Legacy Phenotype Associated Images

View all 91 images

Human diseases caused by Ushbp1 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 Ushbp1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... ORPHA:2064
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Multiple Synostoses Syndrome 2
Carpal synostosis, Vertebral fusion, Proximal symphalangism, Tarsal synostosis, Humeroradial syno... OMIM:610017
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... OMIM:277300
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... OMIM:618469
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Block vertebrae, Abnormality ... OMIM:613686
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Vertebral fusion OMIM:122600
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metopic ridge, Scoliosis OMIM:309620
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Vertebral fusion OMIM:221950
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... ORPHA:66637
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... OMIM:113000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Vertebral fusion, Sacral dimple OMIM:618845
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Short neck, Scoliosis OMIM:214300
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Scoliosis,... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Hemivertebrae, Short neck, Vertebral clefting OMIM:608681
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Spinal dysplasia, Thoracolumbar scoliosis, Absent... OMIM:601344
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination OMIM:244600
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Abnormality of the v... ORPHA:2345
Verheij Syndrome
Hemivertebrae, Short neck, Scoliosis, Hip dislocation, Vertebral fusion OMIM:615583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:606612
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... ORPHA:2916
Kyphosis, Intervertebral disc degeneration, Arthritis, Limitation of knee mobility, Low back pain... OMIM:203500
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, Vertebral fusion ORPHA:313892
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Kbg Syndrome
Vertebral fusion, Short neck, Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, ... ORPHA:2332
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Platyspondyly, Short neck, Biconcave vertebral bodies, Genu valgum, Intervertebral space narrowin... ORPHA:93315
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... ORPHA:90650
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature, Increased... OMIM:312150
Kniest Dysplasia
Enlarged joints, Joint stiffness, Laryngotracheomalacia, Flexion contracture of finger, Anterior ... ORPHA:485
Gorlin Syndrome
Hemivertebrae, Vertebral wedging, Scoliosis, Vertebral fusion ORPHA:377
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature, Increased... OMIM:253290
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:607155
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Scoliosis, Fused thoracic vertebrae ORPHA:1445
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebral segmentation and fusion OMIM:118100
Aarskog-Scott Syndrome
Genu recurvatum, Abnormal vertebral segmentation and fusion, Camptodactyly of finger, Short neck,... ORPHA:915
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... OMIM:616549
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Kyphoscoliosis, Hypoplastic vertebral bodies, Hemivertebrae, Tarsal synost... OMIM:263540
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in muscle tissue, Ectopic ... OMIM:135100
Spondylocarpotarsal Synostosis Syndrome
Vertebral segmentation defect, Carpal synostosis, C2-C3 subluxation, Vertebral fusion, Short neck... OMIM:272460
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Carpal synostosis, Dislocated radial head, Craniosynostosis, Inc... OMIM:305620
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Kyphosis, Short neck, Hyperlordosis ORPHA:2522
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Short neck, Biconcave vertebral bodies, Scoliosis, Wormian bon... OMIM:130720
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis, Block vertebrae, Vertebral fusion OMIM:271520
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scolio... ORPHA:3027
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Scoliosis, Hip dislocation, Vertebral fusion, Joint hype... ORPHA:96169
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Anterior vertebral fusion, Shoulder dislocation, Genu varum, Radioulnar synostosis, Elbow disloca... OMIM:171480
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Genu recurvatum, Enlarged interphalangeal joint... OMIM:151200
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Pterygium, Anterior clefting of vertebral bodies, Flexio... OMIM:265000
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/supination of f... ORPHA:1724
Koolen-De Vries Syndrome
Kyphosis, Spondylolisthesis, Prominent metopic ridge, Scoliosis, Joint hypermobility, Hip disloca... OMIM:610443
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis OMIM:612852
Robinow Syndrome, Autosomal Recessive 1
Dislocated radial head, Hypoplastic sacrum, Hemivertebrae, Vertebral fusion, Short neck, Scoliosi... OMIM:268310
Otopalatodigital Syndrome Type 2
Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmentation and fusion, Ca... ORPHA:90652
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Craniosynostosis, Hyperextensibility of the finger joints, Hemiverte... OMIM:213980
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Basal Cell Nevus Syndrome
Kyphoscoliosis, Hemivertebrae, Vertebral fusion, Scoliosis, Irregular ossification of hand bones,... OMIM:109400
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Scoliosis, Genu varum, Fused cervical vertebrae, Hip dislocati... ORPHA:3320
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
Frontometaphyseal Dysplasia
Dislocated radial head, Sclerosis of skull base, Joint contracture of the hand, Limitation of mov... ORPHA:1826
Kbg Syndrome
Vertebral fusion, Short neck, Vertebral arch anomaly, Thoracic kyphosis, Delayed skeletal maturation OMIM:148050
Microphthalmia, Syndromic 3
Hemivertebrae, Vertebral fusion, Vertebral hypoplasia, Butterfly vertebrae OMIM:206900
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Butterfly vertebrae, Spina bifida occulta OMIM:619227
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Stiff neck, Anteriorly plac... ORPHA:268882
Duane Retraction Syndrome
Abnormal vertebral segmentation and fusion, Short neck, Abnormal form of the vertebral bodies, Sp... ORPHA:233
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Flat acetabular roof, Wormian bones OMIM:617159
Myhre Syndrome
Joint stiffness, Platyspondyly, Short neck, Enlarged vertebral pedicles, Camptodactyly, Vertebral... OMIM:139210
Atelosteogenesis, Type I
Knee dislocation, Short neck, Fused cervical vertebrae, Vertebral hypoplasia, Coronal cleft verte... OMIM:108720
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Hyperextensible hand joints, Camptodactyly OMIM:227330
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Accelerated skeletal maturation, Camptodactyly of finger, Congenit... ORPHA:373
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Generalized joint laxity, Shoulder subluxation, Short neck, Hypermobility of ... ORPHA:508498
Aicardi Syndrome
Block vertebrae, Hemivertebrae, Butterfly vertebrae, Scoliosis OMIM:304050
Apert Syndrome
Delayed epiphyseal ossification, Cervical C5/C6 vertebrae fusion, Craniosynostosis, Coronal crani... OMIM:101200
Aicardi Syndrome
Block vertebrae, Butterfly vertebrae, Scoliosis ORPHA:50
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Spina bifida occulta, Scoliosis, Shoulder dislocation OMIM:607323
Wolf-Hirschhorn Syndrome
Kyphosis, Abnormal sternal ossification, Vertebral fusion, Scoliosis, Abnormal form of the verteb... OMIM:194190
Robinow Syndrome
Kyphoscoliosis, Fused thoracic vertebrae, Hemivertebrae, Scoliosis, Radioulnar dislocation ORPHA:97360
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Frontometaphyseal Dysplasia 2
Hip contracture, Dislocated radial head, Congenital hip dislocation, Scoliosis, Camptodactyly, Fu... OMIM:617137
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Scoliosis, Fused cervical vertebrae, Joint laxity, Tarsal synostosis, Joint hy... OMIM:157800
Chops Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia OMIM:616368
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Genu varum, Carpal bone hypoplasia, Fused cervical vertebrae, Patellar aplasia... OMIM:274000
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Congenital hip dislocation, Absence of the sacrum OMIM:306955
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Fused cervical vertebrae, Contracture of the distal interphalangeal joint of the fingers, Cleft v... ORPHA:83617
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia, Wormian bones, Hip subluxation, Abnormal vertebr... ORPHA:444077
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervica... ORPHA:51608
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion OMIM:211380
Craniofacial Microsomia
Hemivertebrae, Scoliosis, 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 Ushbp1

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 Ushbp1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ushbp1tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ushbp1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ushbp1tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Ushbp1tm1a(EUCOMM)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Ushbp1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ushbp1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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