Gene Summary

Name:
predicted gene 13547
Synonyms:
N/A

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 Gm13547tm1a(KOMP)Wtsi HOM   Early adult 1.15×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

10 Images

Legacy Phenotype Associated Images

View all 86 images

View all 7 images

Human diseases caused by Gm13547 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 Gm13547 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, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symphalangism, Carpal synosto... OMIM:610017
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly OMIM:269630
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Antecubital pterygium, Fused cervical vertebrae, Short neck, Flexion contractu... OMIM:618469
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Spina bifi... OMIM:613686
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae ORPHA:1436
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, Vertebral fusion, Hemivertebrae, Short neck, Scoliosis, Low back pain OMIM:122600
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae OMIM:309620
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Vertebral fusion, Hip contracture, Hemivertebrae, Craniosynostosis, Arthrogryp... OMIM:178110
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Vertebral fusion OMIM:221950
Brachydactyly, Type B1
Vertebral fusion, Hemivertebrae, Joint contracture of the hand, Hypoplastic sacrum, Camptodactyly... 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
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... OMIM:609813
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral segmentation defect, Vertebral fusion OMIM:618845
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae OMIM:214300
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... ORPHA:66637
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Short neck, Vertebral segmentation defect, Hemivertebrae OMIM:608681
Spinal Dysplasia, Anhalt Type
Spinal dysplasia, Osteoarthritis of the small joints of the hand, Absent spinous processes of low... OMIM:601344
Keratoconus Posticus Circumscriptus
Short neck, Abnormal vertebral segmentation and fusion, Limited elbow extension and supination OMIM:244600
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Abnormal vertebral segmentation ... ORPHA:2345
Verheij Syndrome
Vertebral fusion, Hemivertebrae, Hip dislocation, Short neck, Scoliosis OMIM:615583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis OMIM:606612
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect,... ORPHA:3109
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Hemivertebrae, Abnormal form of the vertebral bodies, Kyphosis, Patellar disloc... ORPHA:2916
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Butterfly vertebrae, Vertebral fusion, Scoliosis, Lumbar hyperlordosis ORPHA:313892
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Delayed skeletal maturation, Short neck, Scoliosis, Persiste... ORPHA:2332
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Alkaptonuria
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Limited hip movement, Li... OMIM:203500
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Reduced bone mineral density, Intervertebral space narrowing, Vertebral fusion, Verte... ORPHA:93315
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Increased susceptibility to fractures, Joint dislocation, Flexion contracture, ... OMIM:312150
Gorlin Syndrome
Hemivertebrae, Scoliosis, Vertebral fusion, Vertebral wedging ORPHA:377
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae OMIM:184400
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Increased susceptibility to fractures, Joint dislocation, Flexion contracture, ... OMIM:253290
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis OMIM:607155
Kniest Dysplasia
Coronal cleft vertebrae, Vertebral wedging, Laryngotracheomalacia, Abnormal joint morphology, Del... ORPHA:485
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1445
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Short neck, Cervical C2/C3 vertebral fusion, Scoliosis OMIM:118100
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Aarskog-Scott Syndrome
Abnormal vertebral segmentation and fusion, Abnormality of the cervical spine, Genu recurvatum, C... ORPHA:915
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Acetabular dysplasia, Short neck, Thoracolu... OMIM:616549
Kbg Syndrome
Vertebral arch anomaly, Thoracic kyphosis, Vertebral fusion, Delayed skeletal maturation OMIM:148050
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Spinal canal stenosis, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Hypopl... OMIM:263540
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Progressive cervi... OMIM:135100
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Ankle flexion contracture, Partial fusion of carpals, K... OMIM:305620
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Hyperlordosis, Fused cervical vertebrae, Kyphosis ORPHA:2522
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Vertebral fusion, Sclerosis of skull base, Wormian bones, Kyphosis, J... OMIM:130720
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Hypoplasia of the odontoid process, Vertebral fusion, Capitate-hamate fusion, ... OMIM:272460
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Hemivertebrae, Supernumerary vertebrae, Block vertebrae, Short neck, Scoliosis OMIM:271520
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Fused cervical vertebrae, Carpal synostosis, Delayed skeletal maturation, Syno... OMIM:157800
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Caudal Regression Sequence
Abnormal vertebral segmentation and fusion, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebr... ORPHA:3027
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Hip dislocation, Vertebral segmentation defect, Scoliosis, Joint hype... ORPHA:96169
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Anterior vertebral fusion, Elbow dislocation, Radioulnar synost... OMIM:171480
Lamb-Shaffer Syndrome
Thoracic kyphosis, Scoliosis, Fused cervical vertebrae ORPHA:530983
Microphthalmia, Syndromic 3
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Vertebral hypoplasia OMIM:206900
Mosaic Trisomy 20
Limited pronation/supination of forearm, Spinal canal stenosis, Vertebral fusion, Kyphosis, Fused... ORPHA:1724
Multiple Pterygium Syndrome, Escobar Variant
Dysplastic patella, Popliteal pterygium, Intercrural pterygium, Patellar aplasia, Neck pterygia, ... OMIM:265000
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Joint hypermobility, Hip dislocation, Sacral dimple, Spondylolisthesi... OMIM:610443
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Carpal... ORPHA:90652
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Short neck, Scoliosis, Vertebral fusion, Hemivertebrae ORPHA:94095
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Osteopenia, Joint swelling, Osteolysis OMIM:612852
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Vertebral fusion, Hemivertebrae, Vertebral wedging, Kyphosc... OMIM:109400
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Robinow Syndrome, Autosomal Recessive 1
Vertebral fusion, Thoracolumbar scoliosis, Hypoplastic sacrum, Thoracic hemivertebrae, Delayed sk... OMIM:268310
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Genu varum, Fused cervical vertebrae, Hip dislocation, Patella... ORPHA:3320
Frontometaphyseal Dysplasia
Interphalangeal joint contracture of finger, Limitation of movement at ankles, Sclerosis of skull... ORPHA:1826
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Butterfly vertebrae, Fused cervical vertebrae OMIM:619227
Arnold-Chiari Malformation Type I
Stiff neck, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Anteriorly placed odontoid... ORPHA:268882
Duane Retraction Syndrome
Abnormal vertebral segmentation and fusion, Abnormal form of the vertebral bodies, Camptodactyly,... ORPHA:233
Atelosteogenesis, Type I
Knee dislocation, Coronal cleft vertebrae, Fused cervical vertebrae, Vertebral hypoplasia, Thorac... OMIM:108720
Myhre Syndrome
Vertebral fusion, Platyspondyly, Enlarged vertebral pedicles, Limitation of joint mobility, Campt... OMIM:139210
Thakker-Donnai Syndrome
Short neck, Cervical C2/C3 vertebral fusion, Hemivertebrae ORPHA:1780
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Vertebral fusion, Camptodactyly OMIM:227330
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Accelerated skeletal matur... ORPHA:373
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Generalized joint laxity, Fused cervical vertebrae, Hip dislocation, Cervical hemivertebrae, Thor... ORPHA:508498
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Hemivertebrae, Block vertebrae OMIM:304050
Craniofacial Microsomia
Vertebral hypoplasia, Hemivertebrae, Block vertebrae OMIM:164210
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Block vertebrae ORPHA:50
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Synostosis of carpal bones, Coronal craniosynostosis, Delayed cr... OMIM:101200
Robinow Syndrome
Hemivertebrae, Kyphoscoliosis, Radioulnar dislocation, Fused thoracic vertebrae, Scoliosis ORPHA:97360
Wolf-Hirschhorn Syndrome
Vertebral fusion, Abnormal sternal ossification, Abnormal form of the vertebral bodies, Kyphosis,... OMIM:194190
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Patellar aplasia, Fused cervical vertebrae, Hip dislocation, Carpal synostosis, Patel... OMIM:274000
Duane-Radial Ray Syndrome
Spina bifida occulta, Scoliosis, Fused cervical vertebrae OMIM:607323
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect ORPHA:87
Frontometaphyseal Dysplasia 2
Hip contracture, Dislocated radial head, Congenital hip dislocation, Fused cervical vertebrae, Ca... OMIM:617137
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Cleft vertebral arch, Contracture of the distal interphalangeal joint o... ORPHA:83617
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, Wormian bones, Hip subluxation, T... ORPHA:444077
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Abnormal hip joint morphology, Stippled calcification... 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 Gm13547

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 Gm13547.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Gm13547tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Gm13547tm1a(KOMP)Wtsi PMC6459510

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MGI Allele Allele Type Produced
Gm13547tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Gm13547tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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