Gene: Ushbp1 MGI:1922920

Log in to follow

Gene Summary

Name:
USH1 protein network component harmonin binding protein 1
Synonyms:
MCC2,  2210404N08Rik

IMPC Data Collections

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.

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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 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
phenotypes
Matching phenotypes Source
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... OMIM:277300
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Antecubital pterygiu... OMIM:618469
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae ORPHA:1436
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Block... OMIM:613686
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Spondylocostal Dysostosis 5
Scoliosis, Low back pain, Hemivertebrae, Vertebral fusion, Short neck, Butterfly vertebrae OMIM:122600
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Craniosynostosis, Tarsal synost... OMIM:178110
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Vertebral segmentation defect OMIM:221950
Brachydactyly, Type B1
Hypoplastic sacrum, Camptodactyly, Hemivertebrae, Vertebral fusion, Delayed cranial suture closur... OMIM:113000
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Short neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion OMIM:214300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Vertebral segmentation defect, Sacral dimple OMIM:618845
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral segmentation defect, Vertebral clefting, Hemivertebrae OMIM:608681
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the small joints of the hand,... OMIM:601344
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Abnormal vertebr... ORPHA:2345
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Hip dislocation, Short neck OMIM:615583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:606612
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Elbow dislocation, Abnormal form of the vertebral bodies, Kyphosis, Hemivertebrae, Ver... ORPHA:2916
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion, Butterfly vertebrae ORPHA:313892
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
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
Alkaptonuria
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Increased ... OMIM:312150
Gorlin Syndrome
Scoliosis, Vertebral wedging, Vertebral fusion, Hemivertebrae ORPHA:377
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Increased ... OMIM:253290
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Ring Chromosome 21 Syndrome
Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Kniest Dysplasia
Platyspondyly, Arthropathy, Enlarged joints, Flexion contracture of finger, Coronal cleft vertebr... ORPHA:485
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Short neck, Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion OMIM:118100
Aarskog-Scott Syndrome
Camptodactyly of finger, Genu recurvatum, Joint hyperflexibility, Abnormal vertebral segmentation... ORPHA:915
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
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Hemivertebrae, Vertebral fusion, Spinal canal stenosis, Kyphoscoliosis, Hypopl... OMIM:263540
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Delayed skeletal maturation, Vertebral arch anomaly OMIM:148050
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Ectopic ossification in muscle tissue, Ectopic ossifi... OMIM:135100
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Short neck, Fused cervical vertebrae ORPHA:2522
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Anteriorly placed odontoid process, Partial fusi... OMIM:305620
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Kyphosis, Vertebral fu... OMIM:130720
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Synostosis of carpals/tarsals, Carpal synostosis, Fus... OMIM:157800
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Hemivertebrae, Vertebral fusion, Block vertebrae, Short neck OMIM:271520
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Hyperlordosis, Limited elbow extension, Tarsal synostosis, C2-C3 subluxation, Capitate... OMIM:272460
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
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
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Radioulnar synostosis, Elbow dislocation, Shoulder dislocation, Genu varum, Anterior vertebral fu... OMIM:171480
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Vertebral fusion, Butterfly vertebrae, Hemivertebrae OMIM:206900
Mosaic Trisomy 20
Scoliosis, Kyphosis, Vertebral segmentation defect, Vertebral fusion, Spinal canal stenosis, Fuse... ORPHA:1724
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Dislocated radial head, Axillary pterygium, Arthrogryposis multiplex congenita, Anteri... OMIM:265000
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Kyphosis, Sacral dimple, Spondylolisthesis, Vertebral fusion, Hip... OMIM:610443
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, Synostosis of carpal bo... ORPHA:90652
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Short neck, Vertebral fusion, Hemivertebrae ORPHA:94095
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Osteopenia, Fused cervical vertebrae, Osteomyelitis OMIM:612852
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Hemivertebrae, Vertebral fusion, Kyphoscoliosis,... OMIM:109400
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Thoracic hemivertebrae, Vertebral fusion, Delayed cranial suture c... OMIM:268310
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Genu varum, Hip dislocati... ORPHA:3320
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Dislocated radial head, Craniosynostosis, Camptodactyly of fin... ORPHA:1826
Arnold-Chiari Malformation Type I
Scoliosis, Anteriorly placed odontoid process, Cervical C2/C3 vertebral fusion, Stiff neck, Fused... ORPHA:268882
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae OMIM:619227
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Camptodactyly, Abnormal vertebral segmentation and fusion,... ORPHA:233
Atelosteogenesis, Type I
Coronal cleft vertebrae, Elbow dislocation, Thoracic platyspondyly, Short neck, Fused cervical ve... OMIM:108720
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
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae ORPHA:1780
Simpson-Golabi-Behmel Syndrome
Scoliosis, Accelerated skeletal maturation, Camptodactyly of finger, Congenital hip dislocation, ... ORPHA:373
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Generalized joint laxity, Hypermobility of interphalangeal joints, Thorac... ORPHA:508498
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect ORPHA:959
Charcot-Marie-Tooth Disease Type 4C
Vertebral fusion, Abnormality of the vertebral column, Thoracic scoliosis, Ankle flexion contracture ORPHA:99949
Aicardi Syndrome
Scoliosis, Block vertebrae, Butterfly vertebrae, Hemivertebrae OMIM:304050
Hemifacial Microsomia
Vertebral hypoplasia, Block vertebrae, Hemivertebrae OMIM:164210
Aicardi Syndrome
Scoliosis, Block vertebrae, Butterfly vertebrae ORPHA:50
Robinow Syndrome
Scoliosis, Radioulnar dislocation, Fused thoracic vertebrae, Hemivertebrae, Kyphoscoliosis ORPHA:97360
Apert Syndrome
Humeroradial synostosis, Synostosis of carpal bones, Delayed cranial suture closure, Coronal cran... OMIM:101200
Wolf-Hirschhorn Syndrome
Scoliosis, Radioulnar synostosis, Abnormal form of the vertebral bodies, Abnormal sternal ossific... OMIM:194190
Thrombocytopenia-Absent Radius Syndrome
Carpal bone hypoplasia, Fused cervical vertebrae, Carpal synostosis, Genu varum, Patellar aplasia... OMIM:274000
Duane-Radial Ray Syndrome
Scoliosis, Fused cervical vertebrae, Spina bifida occulta OMIM:607323
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect ORPHA:87
Frontometaphyseal Dysplasia 2
Scoliosis, Dislocated radial head, Congenital hip dislocation, Camptodactyly, Hip contracture, Fu... OMIM:617137
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Contracture of the distal interphalangeal joint of the fingers, Fused cervical vertebrae, Cleft v... ORPHA:83617
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
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Abnormal hip joint morphology, Hypo... ORPHA:51608

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 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 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Ushbp1tm1a(EUCOMM)Wtsi PMC5827107

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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

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

Subscribe to newsletter