Gene Summary

amplified in osteosarcoma

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
abnormal cranium morphology Os9tm1a(EUCOMM)Wtsi HOM   Early adult 1.40×10-05
abnormal snout morphology Os9tm1a(EUCOMM)Wtsi HOM   Early adult 2.73×10-06
abnormal tooth morphology Os9tm1a(EUCOMM)Wtsi HOM   Early adult 9.12×10-05
vertebral fusion Os9tm1a(EUCOMM)Wtsi HOM Early adult 3.92×10-05

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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.


XRay Images Whole Body Dorso Ventral

15 Images


XRay Images Whole Body Lateral Orientation

13 Images


XRay Images Skull Dorso Ventral Orientation

14 Images


XRay Images Forepaw

14 Images


XRay Images Skull Lateral Orientation

14 Images

Anti-nuclear antibody assay


6 Images

DSS Histology


8 Images

Ear epidermis immunophenotyping


3 Images

Legacy Phenotype Associated Images

View all 111 images

Human diseases caused by Os9 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 Os9 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Carpal ... OMIM:610017
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Cleft palate, Antecubital pterygium, Flex... OMIM:618469
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Joint hypermobility, Yellow-brown discoloration of the teeth, Sele... ORPHA:49042
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Cubitus valgus, Genu valgum, Delayed erupt... OMIM:265900
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae, Wide nasal ... OMIM:309620
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Genu valgum, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, ... ORPHA:2972
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Oligodontia, Limitation of joint mobility, Synostosis of carpal b... ORPHA:90650
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Brachydactyly, Type B1
Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae, Camptodactyly, Thoracolumbar s... OMIM:113000
Maxillonasal Dysplasia, Binder Type
Short nose, Dental malocclusion, Patchy distortion of vertebrae, Vertebral clefting OMIM:155050
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Mandibular prognathia, ... ORPHA:2916
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Butterfly vertebrae, Dental crowding, Scoliosis, Thoracic kyphoscoliosis, Exaggera... ORPHA:313892
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Cleft upper lip, Cleft pala... OMIM:214300
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Avascular necrosis, Atrophy of alveolar ridges, Oral ulcer, Abnormality of p... ORPHA:83451
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Cleft upper lip, Cleft palate, Short neck, Abnormal verte... OMIM:244600
Absent or minimally ossified vertebral bodies, Cleft palate, Short neck, Abnormal vertebral segme... ORPHA:66637
Verheij Syndrome
Retrognathia, Short nose, Scoliosis, Hemivertebrae, Short neck, Cleft palate, Vertebral fusion, L... OMIM:615583
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Aarskog-Scott Syndrome
Orofacial cleft, Delayed eruption of teeth, Genu recurvatum, Abnormality of the dentition, Everte... ORPHA:915
Kbg Syndrome
Oligodontia, Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Delayed skeletal ... ORPHA:2332
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Intervertebral space narrowing, Mandibular prognath... OMIM:601216
Spondylocostal Dysostosis 5
Butterfly vertebrae, Scoliosis, Hemivertebrae, Low back pain, Short neck, Vertebral fusion OMIM:122600
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization OMIM:614832
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth OMIM:615887
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Multip... OMIM:178110
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae ORPHA:1436
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Hyperlordosis, Tooth agenesis, Accelerated skeletal maturation, Joint hypermobili... OMIM:618363
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Scoliosis, Cleft palate, Sh... ORPHA:2345
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, High palate, Everted lower lip vermilion, ... OMIM:616549
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral fusion, Vertebral segmentation defect OMIM:618845
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Cleft upper lip, Micrognathia, Cleft palate, Abnormal cervi... OMIM:312150
Hypophosphatasia, Adult
Rickets, Arthropathy, Osteomalacia, Carious teeth, Premature loss of primary teeth, Pathologic fr... OMIM:146300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Elbow contracture,... OMIM:606612
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Carious teeth, Camptodactyly of finger, Hypodontia, Oral mucosal blisters OMIM:226650
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Short nose, Tarsal synostosis, Scoliosis, Hyperlordosis, Vertebral segme... OMIM:272460
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Micrognathia, Cleft palate, Abnormal cervical curvature, Fl... OMIM:253290
Koolen-De Vries Syndrome
Narrow palate, High, narrow palate, Abnormal dental enamel morphology, Scoliosis, Vertebral segme... ORPHA:96169
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Short philtrum, Narrow mouth, Camptodactyly, Downturned corners ... OMIM:617333
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Biconcave ve... ORPHA:93315
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Abnormal dental morphology, Micrognathia, Shor... ORPHA:2522
Failure Of Tooth Eruption, Primary
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth OMIM:125350
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Vertebral fusion OMIM:607155
Kniest Dysplasia
Fused cervical vertebrae, Platyspondyly, Delayed epiphyseal ossification, Vertebral wedging, Arth... ORPHA:485
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Spina bifida occulta, Scoliosis, Hemivertebrae, Vertebral s... OMIM:613686
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Supernumerary tooth, Limitation of joint mobility, Carious teeth, Micrognathia, Hypoplasia of the... ORPHA:3145
Lateral Meningocele Syndrome
Dental crowding, Scoliosis, Wormian bones, High palate, Kyphosis, Biconcave vertebral bodies, Sho... OMIM:130720
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Scoliosis, Cleft palate, Short neck, Abnormal vertebral segmenta... OMIM:118100
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Dislocated radial head, Dental crowding, Tooth agenesis, Delaye... OMIM:268310
Narrow palate, Spondylolysis, Spondylolisthesis, Absent frontal sinuses, Increased bone mineral d... OMIM:265800
Dentinogenesis Imperfecta 1
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta OMIM:125490
Otopalatodigital Syndrome Type 2
Short nose, Tarsal synostosis, Increased bone mineral density, Oligodontia, Scoliosis, Glossoptos... ORPHA:90652
Multiple Pterygium Syndrome, Escobar Variant
Dislocated radial head, Kyphosis, Long philtrum, Hip dislocation, Axillary pterygium, Triangular ... OMIM:265000
Ring Chromosome 21 Syndrome
Scoliosis, Thoracic hemivertebrae, Fused thoracic vertebrae ORPHA:1445
Mosaic Trisomy 20
Retrognathia, Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spina... ORPHA:1724
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Cervical instability, Delayed oss... ORPHA:93346
Larsen Syndrome
Beaking of vertebral bodies, Spondylolysis, Multiple carpal ossification centers, Spina bifida oc... OMIM:150250
Gorlin Syndrome
Orofacial cleft, Abnormal vertebral morphology, Odontogenic keratocysts of the jaw, Vertebral wed... ORPHA:377
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Stapes Ankylosis With Broad Thumbs And Toes
Long nose, Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Shoulder dislocatio... OMIM:618000
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Scoliosis, Thoracic kyphosis, Micrognathia, Thick vermilion border ORPHA:530983
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Fibrodysplasia Ossificans Progressiva
Widely spaced teeth, Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in li... OMIM:135100
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Microdontia of primary teeth, Beaking of vertebral bodies, Short nose, Sacral dimple, Hyperextens... OMIM:213980
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ... OMIM:203500
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, Short nose, High palate, Camptodactyly, Wide mouth, Trismus, Dental malocclusion, ... OMIM:227330
Koolen-De Vries Syndrome
Narrow palate, Widely spaced teeth, Sacral dimple, Spondylolisthesis, Scoliosis, High palate, Eve... OMIM:610443
Mucopolysaccharidosis, Type Iva
Grayish enamel, Widely spaced teeth, Lumbar kyphosis, Genu valgum, Anterior beaking of lumbar ver... OMIM:253000
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Scoliosis, Osteoporosis, Carious teeth, Platyspondyly, Recurrent fractures OMIM:126550
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Dental crowding, Mandibular prognathia, Scoliosis, High ... OMIM:269300
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Caudal Regression Syndrome
Orofacial cleft, Aplasia/Hypoplasia of the sacrum, Scoliosis, Joint stiffness, Hypoplastic verteb... ORPHA:3027
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Odontogenic keratocysts of the jaw, Vertebral wedging, Mandibular prognathia, Sco... OMIM:109400
Robinow Syndrome
Kyphoscoliosis, Orofacial cleft, Short nose, Triangular mouth, Tooth malposition, Hypodontia, Bro... ORPHA:97360
Mucopolysaccharidosis Type 4
Grayish enamel, Reduced bone mineral density, Genu valgum, Platyspondyly, Joint dislocation, Abno... ORPHA:582
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee... ORPHA:1946
Spondylolysis, Spondylolisthesis, Hyperlordosis, Kyphosis, Persistent open anterior fontanelle, J... ORPHA:763
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu valgum, Hypophosphatemic rickets, Hypoplasia of teeth, Delayed skeletal maturation, Carious ... OMIM:613312
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Fused cervical vertebrae, Spina bifida occul... ORPHA:1826
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Kbg Syndrome
Oligodontia, Thoracic kyphosis, Delayed skeletal maturation, Short neck, Tented upper lip vermili... OMIM:148050
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Short philtrum, High palate, Lumbar scoliosis, Downturned corner... OMIM:617796
Craniolenticulosutural Dysplasia
Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, Scoliosis, High palate... ORPHA:50814
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Hemivertebrae, Block vertebrae, Short neck, Supernumerary vertebrae, Vertebral fusion OMIM:271520
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... ORPHA:1811
Dysostosis, Stanescu Type
Abnormal palate morphology, Increased bone mineral density, Abnormal dental enamel morphology, Sc... ORPHA:1798
Shashi-Pena Syndrome
Retrognathia, Cervical C2/C3 vertebral fusion, Scoliosis, Kyphosis, Osteoporosis, Accelerated ske... OMIM:617190
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of joint mobility, J... OMIM:151200
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Cervical C2/C3 vertebral fusion ORPHA:370010
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Scoliosis, Micrognathia, Cleft palat... ORPHA:3320
Myhre Syndrome
Short philtrum, Enlarged vertebral pedicles, Mandibular prognathia, Narrow mouth, Limitation of j... OMIM:139210
Elsahy-Waters Syndrome
Agenesis of incisor, Supernumerary tooth, Thick lower lip vermilion, Cervical C2/C3 vertebral fus... OMIM:211380
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Fused cervical vertebrae, Stomatitis, Osteolysis, Joint swelling, Osteomyelitis OMIM:612852
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Butterfly vertebrae, Fused cervical vertebrae, Spina bifida occulta, Submucous clef... OMIM:619227
Oslam Syndrome
Carious teeth, Radioulnar synostosis ORPHA:2760
Atelosteogenesis, Type I
Short nose, Fused cervical vertebrae, Elbow dislocation, Vertebral hypoplasia, Micrognathia, Clef... OMIM:108720
Apert Syndrome
Narrow palate, Limited elbow movement, Lambdoidal craniosynostosis, Delayed eruption of teeth, De... OMIM:101200
Simpson-Golabi-Behmel Syndrome
Short nose, High, narrow palate, Mandibular prognathia, Scoliosis, Vertebral segmentation defect,... ORPHA:373
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Supernumerary tooth, Agenesis of molar, Bicoronal synostosis, Scoliosis, Kyphosis, Mi... OMIM:619718
Familial Osteodysplasia, Anderson Type
Long nose, Abnormal zygomatic bone morphology, Tooth malposition, Abnormal form of the vertebral ... ORPHA:2769
Duane Retraction Syndrome
Spina bifida occulta, Abnormal form of the vertebral bodies, Everted lower lip vermilion, Camptod... ORPHA:233
Apert Syndrome
Narrow palate, Delayed eruption of teeth, Mandibular prognathia, Vertebral segmentation defect, C... ORPHA:87
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Generalized joint hypermobility, Shoulder subluxation, Fused cervical vertebrae, Mandibular progn... ORPHA:508498
Craniolenticulosutural Dysplasia
Osteopenia, Delayed eruption of teeth, Scoliosis, High palate, Carious teeth, Hypoplasia of teeth... OMIM:607812
Wolf-Hirschhorn Syndrome
Orofacial cleft, Sacral dimple, Abnormal sternal ossification, Short philtrum, Abnormal form of t... OMIM:194190
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Frontometaphyseal Dysplasia 2
Fused cervical vertebrae, Short philtrum, Dislocated radial head, Scoliosis, High palate, Camptod... OMIM:617137
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Narrow mouth, Downturned corners of mouth, Short ... ORPHA:1780
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Fused cervical vertebrae, Bifid uvula, Flat acetabular roof OMIM:617159
Aicardi Syndrome
Butterfly vertebrae, Short philtrum, Scoliosis, Cleft upper lip, Cleft palate, Block vertebrae, P... ORPHA:50
Chromosome 16P13.3 Duplication Syndrome
Short nose, Sacral dimple, Tracheobronchomalacia, Microdontia, Camptodactyly, Cervical C5/C6 vert... OMIM:613458
Chops Syndrome
Short nose, High, narrow palate, Cervical C2/C3 vertebral fusion, Tracheomalacia, Downturned corn... OMIM:616368
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Hemivertebrae, Cleft upper lip, Cleft palate, Block vertebrae, Pr... OMIM:304050
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Vertebral fusion OMIM:206900
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Anteriorly plac... ORPHA:268882
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Fusion of middle ear ossicles, Delayed sk... OMIM:157800
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short nose, Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, Trac... ORPHA:444077
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Retrognathia, Fused cervical vertebrae, Narrow mouth, Cleft vertebral arch, Coronal craniosynosto... ORPHA:83617
Duane-Radial Ray Syndrome
Shoulder dislocation, Scoliosis, Fused cervical vertebrae, Spina bifida occulta OMIM:607323
Beaking of vertebral bodies, Short nose, Abnormal vertebral morphology, Anterior beaking of lumba... ORPHA:93
Thrombocytopenia-Absent Radius Syndrome
Carpal bone hypoplasia, Fused cervical vertebrae, Micrognathia, Cleft palate, Carpal synostosis, ... OMIM:274000
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Absence of the sacrum, Congenital hip dislocation OMIM:306955
Craniofacial Microsomia 1
Transverse facial cleft, Genu valgum, Maxillozygomatic hypoplasia, Scoliosis, Hemivertebrae, Vert... OMIM:164210
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal... ORPHA:51608
Holt-Oram Syndrome
Limited elbow extension, Abnormal carpal morphology, Sacral dimple, Cervical C2/C3 vertebral fusi... OMIM:142900


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 Os9

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 Os9.

There are 5 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) Os9tm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Os9tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Os9tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Os9tm1a(EUCOMM)Wtsi