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

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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

Anti-nuclear antibody assay


6 Images


XRay Images Skull Lateral Orientation

14 Images


XRay Images Skull Dorso Ventral Orientation

14 Images


XRay Images Forepaw

14 Images


XRay Images Whole Body Lateral Orientation

13 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
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... ORPHA:83450
Dentin Dysplasia, Type I
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... OMIM:125400
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abn... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Amelogenesis Imperfecta, Type Ij
Widely spaced teeth, Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Increased overbite OMIM:617297
Amelogenesis Imperfecta
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... ORPHA:88661
Multiple Synostoses Syndrome 2
Vertebral fusion, Proximal symphalangism, Finger symphalangism, Carpal synostosis, Humeroradial s... OMIM:610017
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Scoliosis, Short neck, Cleft palate, Fused cervical vertebrae, Flexion ... OMIM:618469
Dentinogenesis Imperfecta
Grayish enamel, Knee joint hypermobility, Finger joint hypermobility, Abnormal dental pulp morpho... ORPHA:49042
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Short neck, Hemivertebrae, Back pain, Vert... OMIM:277300
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion, Carious teet... OMIM:204700
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Thoracic hemivertebrae, Wide nasal bridge, Fused cervical ver... OMIM:309620
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia OMIM:104530
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Denti... OMIM:125500
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Thistle tube shaped pulp, Pulp calcification OMIM:125420
Pyle Disease
Absent paranasal sinuses, Limited elbow extension, Reduced bone mineral density, Scoliosis, Hypop... OMIM:265900
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... ORPHA:99798
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Malar flattening, Abnormality of dental morphology, Maxillozygomatic hypoplasia, Alveolar process... ORPHA:2972
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Maxillonasal Dysplasia, Binder Type
Short nose, Dental malocclusion, Vertebral clefting, Patchy distortion of vertebrae OMIM:155050
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Oligodontia, Anodontia, Hypoplastic frontal sinuses, Synostosis o... ORPHA:90650
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Dentin Dysplasia
Increased bone mineral density, Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Amelogenesis Imperfecta, Type Ic
Taurodontia, Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion,... OMIM:204650
Brachydactyly, Type B1
Camptodactyly, Vertebral fusion, Thoracolumbar scoliosis, Delayed eruption of permanent teeth, De... OMIM:113000
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Vertebral fusion, Hypoplastic vertebral bodies, Mandibular prognathia, Kyphosis, Cleft... ORPHA:2916
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Florid Cemento-Osseous Dysplasia
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... ORPHA:83451
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Short neck, Fused cervical vertebrae, Cleft palate, Cervical C2/C3 vertebral fusion, C... OMIM:214300
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... ORPHA:66637
Verheij Syndrome
Scoliosis, Retrognathia, Hip dislocation, Vertebral fusion, Short neck, Short nose, Cleft palate,... OMIM:615583
Keratoconus Posticus Circumscriptus
Short neck, Cleft palate, Abnormal vertebral segmentation and fusion, Limited elbow extension and... OMIM:244600
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Hypomature enamel, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Amelogenesis imperfecta, Yel... OMIM:618386
Aarskog-Scott Syndrome
Camptodactyly of finger, Abnormality of the dentition, Short neck, Genu recurvatum, Everted lower... ORPHA:915
Gorlin Syndrome
Scoliosis, Vertebral fusion, Vertebral wedging, Mandibular prognathia, Hemivertebrae, Carious tee... ORPHA:377
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Vertebral fusion, Lumbar hyperlordosis, Butterfly vertebrae, Thoracic kyphoscoliosis, ... ORPHA:313892
Dental Anomalies And Short Stature
Herniation of intervertebral nuclei, Oligodontia, Scoliosis, Widely spaced teeth, Amelogenesis im... OMIM:601216
Spondylocostal Dysostosis 5
Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Hemivertebrae OMIM:122600
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Kbg Syndrome
Oligodontia, Scoliosis, Vertebral fusion, Thoracic kyphosis, Persistent open anterior fontanelle,... ORPHA:2332
Amelogenesis Imperfecta, Type If
Abnormality of dental color, Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Otodental Dysplasia
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru... OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Craniosynostosis, Camptodactyly, Scoliosis, Vertebral fusion, Short neck, Knee flexion contractur... OMIM:178110
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae ORPHA:1436
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis OMIM:125440
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Abnormal dentin morphology, Anterior open-bite malocc... OMIM:301200
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the teeth OMIM:104510
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Tooth agenesis, Advanced ossification of carpal bones, Cleft palate, Knee dislocation,... OMIM:618363
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Scoliosis, Selective tooth agenesis, Cleft palate, Carpal synostosis, In... OMIM:305620
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Cleft pal... ORPHA:2345
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
High palate, Short neck, Thoracolumbar scoliosis, Everted lower lip vermilion, Acetabular dysplas... OMIM:616549
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Vertebral fusion, Sacral dimple OMIM:618845
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Joint dislocation, Cleft palate, Multiple pterygia... OMIM:312150
Hypophosphatasia, Adult
Rickets, Chondrocalcinosis, Pathologic fracture, Arthropathy, Osteomalacia, Premature loss of pri... OMIM:146300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Scoliosis, Vertebral fusion, Kyphosis, Elbow contracture, Achilles tendon contractu... OMIM:606612
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Enamel hypoplasia, Oral mucosal blisters, Hypodontia, Carious teeth OMIM:226650
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Scoliosis, Vertebral fusion, Short neck, Short nose, Enamel hypoplasia, ... OMIM:272460
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Joint dislocation, Cleft palate, Multiple pterygia... OMIM:253290
Koolen-De Vries Syndrome
Abnormality of the dentition, Scoliosis, Hip dislocation, Vertebral fusion, Microdontia, Kyphosis... ORPHA:96169
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Camptodactyly, Narrow mouth, Downturned corners of mouth, Long philtrum, Wide nasal bridge, Cervi... OMIM:617333
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Vertebral wedging, Biconvex vertebral bodies, Increased susceptibility to fractures, I... ORPHA:93315
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Malar prominence, Abnormality of dental morphology, Kyphosis, Micrognathia, Fused cer... ORPHA:2522
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Otodental Syndrome
Abnormal dental pulp morphology, Agenesis of premolar, Taurodontia, Abnormal dental enamel morpho... ORPHA:2791
Kniest Dysplasia
Abnormal joint morphology, Anterior vertebral fusion, Joint stiffness, Short neck, Laryngotracheo... ORPHA:485
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Scoliosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Hyperlordosis OMIM:607155
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Supernumerary tooth, Carious teeth, Limitation of joint mobility, Micrognathia, Hypoplasia of the... ORPHA:3145
Lateral Meningocele Syndrome
High palate, Scoliosis, Vertebral fusion, Short neck, Malar flattening, Wormian bones, Kyphosis, ... OMIM:130720
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Short neck, Cleft palate, Abnormal vertebral segmentation and fusion, Cervical C2/C3 v... OMIM:118100
Amelo-Onycho-Hypohidrotic Syndrome
Tooth agenesis, Abnormal dental enamel morphology, Abnormality of dental morphology, Everted lowe... ORPHA:1028
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Scoliosis, Vertebral fusion, Short neck, Hemivertebrae, Spin... OMIM:613686
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Enamel hypoplasia, Abnormal dental enamel morphology ORPHA:3196
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Absent uvula, Bifid tongue, Delayed skeletal maturation, Thoracic hemivertebrae, Short... OMIM:268310
Spondylolysis, Increased bone mineral density, Scoliosis, Osteolytic defects of the distal phalan... OMIM:265800
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Low back pain, Vertebral fusion, Arthropathy, Limited shoulder movement, Kyphosis, Arthritis, Lim... OMIM:203500
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Oligodontia, Scoliosis, Camptodactyly of finger, Anodontia, Hypop... ORPHA:90652
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae ORPHA:1445
Cleft Lip/Palate
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... ORPHA:199306
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Hip dislocation, Cleft palate, Intercrural pterygium, Narrow mouth, Popliteal pterygiu... OMIM:265000
Mosaic Trisomy 20
Scoliosis, Retrognathia, Vertebral fusion, Limited pronation/supination of forearm, Cleft lip, Ky... ORPHA:1724
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Long nose, Proximal/middle symphalangism of 5th finger OMIM:184460
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Micrognathia, Fused cervical vertebrae, Thick vermilion border ORPHA:530983
Larsen Syndrome
Spondylolysis, Tracheomalacia, Scoliosis, Hip dislocation, Vertebral fusion, Malar flattening, Mu... OMIM:150250
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Van Der Woude Syndrome 2
Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip OMIM:606713
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Fibrodysplasia Ossificans Progressiva
Scoliosis, Widely spaced teeth, Ectopic ossification in tendon tissue, Progressive cervical verte... OMIM:135100
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Cervical instability, Laryngotracheomalacia, Delayed ossification of carpal bones, Platyspondyly,... ORPHA:93346
Ehlers-Danlos Syndrome, Classic-Like, 2
High palate, Hip dislocation, Generalized joint laxity, Short neck, Osteoporosis, Osteoarthritis,... OMIM:618000
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Camptodactyly, Hyperextensible hand joints, Vertebral fusion, Trismus, Deep philtrum... OMIM:227330
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Craniosynostosis, High palate, Scoliosis, Vertebral fusion, Short neck, Hyperextensibility of the... OMIM:213980
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Anterior vertebral fusion, Genu varum, Malar flattening, Shoulder dislocation, Long philtrum, Rad... OMIM:171480
Calvarial Doughnut Lesions With Bone Fragility
Scoliosis, Osteoporosis, Osteopenia, Platyspondyly, Carious teeth, Recurrent fractures OMIM:126550
Koolen-De Vries Syndrome
Open mouth, High palate, Scoliosis, Hip dislocation, Prominent metopic ridge, Vertebral fusion, W... OMIM:610443
Craniometadiaphyseal Dysplasia
Absent paranasal sinuses, High palate, Scoliosis, Genu varum, Malar flattening, Mandibular progna... OMIM:269300
Robinow Syndrome
Marked delay in eruption of permanent teeth, Fused thoracic vertebrae, Scoliosis, Tooth malpositi... ORPHA:97360
Basal Cell Nevus Syndrome 1
Scoliosis, Vertebral fusion, Odontogenic keratocysts of the jaw, Mandibular prognathia, Vertebral... OMIM:109400
Caudal Regression Syndrome
Scoliosis, Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fus... ORPHA:3027
Mucopolysaccharidosis, Type Iva
Ulnar deviation of the wrist, Grayish enamel, Scoliosis, Large elbow, Short neck, Ovoid vertebral... OMIM:253000
Mucopolysaccharidosis Type 4
Grayish enamel, Abnormality of the dentition, Scoliosis, Reduced bone mineral density, Short neck... ORPHA:582
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Spondylolysis, Scoliosis, Osteolytic defects of the distal phalanges of the hand, Spondylolisthes... ORPHA:763
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu varum, Hypoplasia of teeth, Hypophosphatemic rickets, Carious teeth, Delayed skeletal matura... OMIM:613312
Jalili Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:1873
Craniolenticulosutural Dysplasia
Premature loss of teeth, High palate, Scoliosis, Posterior wedging of vertebral bodies, Hypoplasi... ORPHA:50814
Frontometaphyseal Dysplasia
Craniosynostosis, Oligodontia, Scoliosis, Camptodactyly of finger, Bifid uvula, Wrist flexion con... ORPHA:1826
Kbg Syndrome
Oligodontia, Vertebral fusion, Thoracic kyphosis, Short neck, Macrodontia, Tented upper lip vermi... OMIM:148050
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Hemivertebrae, Block vertebrae OMIM:271520
Intellectual Developmental Disorder, Autosomal Dominant 52
Open mouth, High palate, Lumbar hyperlordosis, Lumbar scoliosis, Downturned corners of mouth, Smo... OMIM:617796
Dysostosis, Stanescu Type
Macroglossia, Increased bone mineral density, Abnormality of the dentition, Abnormal palate morph... ORPHA:1798
Shashi-Pena Syndrome
Scoliosis, Retrognathia, Osteoporosis, Kyphosis, Accelerated skeletal maturation, Cervical C2/C3 ... OMIM:617190
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Genu recurvatum, Cubitus valgus, Limitation of ... OMIM:151200
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Thin upper lip vermilion ORPHA:370010
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Hip dislocation, Genu varum, Patellar dislocation, Cleft palate, Aplasia/Hypoplasia of... ORPHA:3320
Oslam Syndrome
Radioulnar synostosis, Carious teeth ORPHA:2760
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Stomatitis, Joint swelling, Osteopenia, Osteomyelitis, Fused cervical vertebrae OMIM:612852
Myhre Syndrome
Camptodactyly, Vertebral fusion, Joint stiffness, Cleft lip, Malar flattening, Short neck, Enlarg... OMIM:139210
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Retrognathia, Submucous cleft hard palate, Spina bifida occulta, Fused cervi... OMIM:619227
Elsahy-Waters Syndrome
High palate, Bifid uvula, Malar flattening, Broad philtrum, Mandibular prognathia, Multiple impac... OMIM:211380
Duane Retraction Syndrome
Camptodactyly, Short neck, Everted lower lip vermilion, Cleft palate, Spina bifida occulta, Abnor... ORPHA:233
Atelosteogenesis, Type I
Short neck, Malar flattening, Coronal cleft vertebrae, Short nose, Cleft palate, Knee dislocation... OMIM:108720
Apert Syndrome
Craniosynostosis, Coronal craniosynostosis, Bifid uvula, Malar flattening, Mandibular prognathia,... OMIM:101200
Familial Osteodysplasia, Anderson Type
Long nose, Elbow dislocation, Scoliosis, Tooth malposition, Malar flattening, Mandibular prognath... ORPHA:2769
Simpson-Golabi-Behmel Syndrome
Macroglossia, Camptodactyly of finger, Scoliosis, Congenital hip dislocation, Vertebral fusion, S... ORPHA:373
Craniolenticulosutural Dysplasia
High palate, Scoliosis, Posterior wedging of vertebral bodies, Bifid uvula, Hypoplasia of teeth, ... OMIM:607812
Apert Syndrome
Bifid uvula, Mandibular prognathia, Cleft palate, Cervical C5/C6 vertebrae fusion, Narrow palate,... ORPHA:87
Ameloonychohypohidrotic Syndrome
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... OMIM:104570
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic hemivertebrae, Hip dislocation, Generalized joint laxity, Cervical hemivertebrae, Short ... ORPHA:508498
Wolf-Hirschhorn Syndrome
Scoliosis, Short upper lip, Vertebral fusion, Hip dislocation, Abnormal form of the vertebral bod... OMIM:194190
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Frontometaphyseal Dysplasia 2
High palate, Scoliosis, Camptodactyly, Congenital hip dislocation, Bifid uvula, Deep philtrum, Di... OMIM:617137
Thakker-Donnai Syndrome
Short neck, Hemivertebrae, Narrow mouth, Downturned corners of mouth, Cervical C2/C3 vertebral fu... ORPHA:1780
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Flat acetabular roof, Wormian bones, Bifid uvula OMIM:617159
Chromosome 16P13.3 Duplication Syndrome
Camptodactyly, Hip dislocation, Bifid uvula, Short neck, Short nose, Sacral dimple, Microdontia, ... OMIM:613458
Aicardi Syndrome
Scoliosis, Butterfly vertebrae, Cleft palate, Block vertebrae, Short philtrum, Cleft upper lip, P... ORPHA:50
Chops Syndrome
Tracheomalacia, Short nose, High, narrow palate, Downturned corners of mouth, Long philtrum, Cerv... OMIM:616368
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Aicardi Syndrome
Scoliosis, Butterfly vertebrae, Cleft palate, Hemivertebrae, Block vertebrae, Cleft upper lip, Pr... OMIM:304050
Microphthalmia, Syndromic 3
Hemivertebrae, Butterfly vertebrae, Vertebral fusion, Vertebral hypoplasia OMIM:206900
Arnold-Chiari Malformation Type I
Stiff neck, Scoliosis, Fused cervical vertebrae, Anteriorly placed odontoid process, Cervical C2/... ORPHA:268882
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Herniation of intervertebral nuclei, Scoliosis, Carpal synostosis,... OMIM:157800
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Retrognathia, Contracture of the distal interphalangeal joint of the fi... ORPHA:83617
Enamel-Renal Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormalit... ORPHA:1031
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Macroglossia, High palate, Tracheomalacia, Short nose, Wormian bones, Downturned corners of mouth... ORPHA:444077
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Scoliosis, Spina bifida occulta, Shoulder dislocation OMIM:607323
Macroglossia, Abnormality of the dentition, Scoliosis, Joint stiffness, Short nose, Mandibular pr... ORPHA:93
Thrombocytopenia-Absent Radius Syndrome
Patellar aplasia, Hip dislocation, Genu varum, Malar flattening, Patellar dislocation, Cleft pala... OMIM:274000
Craniofacial Microsomia
Transverse facial cleft, Scoliosis, Malar flattening, Cleft palate, Hemivertebrae, Maxillozygomat... OMIM:164210
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae OMIM:306955
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Abnormality of the knee, Abnormal hip joint morpholog... ORPHA:51608


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