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Gene: Os9 MGI:1924301

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Gene Summary

Name:
amplified in osteosarcoma
Synonyms:
4632413K17Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
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
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.

DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Anti-nuclear antibody assay

Images

6 Images

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Ear epidermis immunophenotyping

Images

3 Images

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Legacy Phenotype Associated Images
Os9tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Os9tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Os9tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Os9tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Os9tm1a(EUCOMM)Wtsi
HOM, Female, WTSI

View all 111 images

Os9tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Os9tm1a(EUCOMM)Wtsi
HOM, Female, WTSI

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
phenotypes		 Matching phenotypes Source
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... 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
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Scoliosis, Thoracic hemiver... OMIM:309620
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... ORPHA:2972
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Hypoplastic fron... ORPHA:90650
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion, Short nose OMIM:155050
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Dentin Dysplasia
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of... OMIM:113000
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di... ORPHA:2916
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med... ORPHA:313892
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve... OMIM:214300
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Verheij Syndrome
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Short neck, Hemivertebrae, Hip dislocat... OMIM:615583
Diaphanospondylodysostosis
Cleft palate, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral ... ORPHA:66637
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Abnormal verte... OMIM:244600
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Aarskog-Scott Syndrome
Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Short neck, Hypoplasia of th... ORPHA:915
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Carious teeth, Hemivertebrae, Wide nasal bridge, Vertebr... ORPHA:377
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Platyspondyly, Oli... OMIM:601216
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae OMIM:122600
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Macrodontia, Sho... ORPHA:2332
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost... OMIM:178110
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat... OMIM:618363
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Cleft palate, Abnormality of the vertebral column, Scolio... ORPHA:2345
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture,... 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
Vertebral fusion, Sacral dimple, Vertebral segmentation defect OMIM:618845
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Hypophosphatasia, Adult
Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss... OMIM:146300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog... OMIM:606612
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia 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
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th... OMIM:272460
Koolen-De Vries Syndrome
Vertebral fusion, Abnormal dental enamel morphology, Abnormality of the dentition, Kyphosis, High... ORPHA:96169
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Short philtrum, Camptod... OMIM:617333
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, High palate, Abnormal bone ossification, Abnormal verte... ORPHA:93315
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal dental morphology, Hyperlordosis, Micrognathia, Kyphosis, Short neck, Malar prominence, ... ORPHA:2522
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... ORPHA:485
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Scoliosis OMIM:607155
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmenta... OMIM:118100
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the... ORPHA:3145
Lateral Meningocele Syndrome
Smooth philtrum, Vertebral fusion, Dental crowding, Short neck, Micrognathia, Kyphosis, Cleft pal... OMIM:130720
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra... OMIM:613686
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Thoracic he... OMIM:268310
Pycnodysostosis
Persistent open anterior fontanelle, Increased bone mineral density, Delayed eruption of primary ... OMIM:265800
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Micrognathia, Elbow d... ORPHA:90652
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1445
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... OMIM:265000
Mosaic Trisomy 20
Vertebral fusion, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosis, Cleft palate, Fused c... ORPHA:1724
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Stapes Ankylosis With Broad Thumbs And Toes
Long nose, Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Larsen Syndrome
Joint laxity, Vertebral fusion, Cervical kyphosis, Cleft upper lip, Elbow dislocation, Dislocated... OMIM:150250
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Lamb-Shaffer Syndrome
Micrognathia, Fused cervical vertebrae, Thick vermilion border, Thoracic kyphosis, Scoliosis ORPHA:530983
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Glos... ORPHA:93346
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit... OMIM:618000
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Craniosynostosis, Short... OMIM:213980
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Trismus, Deep philtrum, Hyperextensible hand joints, Dental malocclusion, Narro... OMIM:227330
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Long p... OMIM:171480
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Cleft upper lip, Kyphosis, Hip dislocat... OMIM:610443
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Platyspondyly, Scoliosis OMIM:126550
Craniometadiaphyseal Dysplasia
Osteopenia, Mandibular prognathia, Natal tooth, Dental crowding, Microdontia, Carious teeth, Genu... OMIM:269300
Caudal Regression Syndrome
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Orofacial cleft, Hypoplastic vertebral bodies,... ORPHA:3027
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Kyphoscoliosis, Clef... OMIM:109400
Robinow Syndrome
Fused thoracic vertebrae, Dental crowding, Kyphoscoliosis, Micrognathia, Persistence of primary t... ORPHA:97360
Mucopolysaccharidosis, Type Iva
Joint laxity, Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperl... OMIM:253000
Mucopolysaccharidosis Type 4
Joint dislocation, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Delaye... ORPHA:582
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... ORPHA:763
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Delayed skeletal maturation, Genu valgum, Hypoplasia of teeth, Hypophosphatemic ri... OMIM:613312
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Downturned corners of mouth, Lumbar scoliosis, High palate, Short philtrum,... OMIM:617796
Kbg Syndrome
Vertebral fusion, Tented upper lip vermilion, Macrodontia, Short neck, Delayed skeletal maturatio... OMIM:148050
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr... ORPHA:50814
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae OMIM:271520
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Increased bone mineral density, Abnormal dental enamel morph... ORPHA:1798
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Shashi-Pena Syndrome
Thin upper lip vermilion, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cer... OMIM:617190
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Thin upper lip vermilion ORPHA:370010
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Micrognathia, Hip dislocation, Cleft palate, Fused cervical ve... ORPHA:3320
Oslam Syndrome
Carious teeth, Radioulnar synostosis ORPHA:2760
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Stomatitis OMIM:612852
Myhre Syndrome
Mandibular prognathia, Vertebral fusion, Thin upper lip vermilion, Short neck, Joint stiffness, H... OMIM:139210
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Submucous cleft hard palate, Retrognathia, Fused cervical vertebrae, Spina bifida occulta, Butter... OMIM:619227
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... OMIM:211380
Duane Retraction Syndrome
Short neck, Micrognathia, Spina bifida occulta, Wide nasal bridge, Abnormal form of the vertebral... ORPHA:233
Atelosteogenesis, Type I
Short neck, Thoracic platyspondyly, Elbow dislocation, Micrognathia, Cleft palate, Knee dislocati... OMIM:108720
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Sagittal craniosynostosis, Limited elbow moveme... OMIM:101200
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Acc... ORPHA:373
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Elbow disloca... ORPHA:2769
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Diastema, Kyphosis, Supernumerary tooth, Agenesis of molar, Ost... OMIM:619718
Craniolenticulosutural Dysplasia
Osteopenia, Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Delayed closure of... OMIM:607812
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Microretrognathia, Thoracic scoliosis, Cervical hemivertebrae, Thin upper ... ORPHA:508498
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte... ORPHA:87
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Cleft upper lip, Micrognathia, Kyphosis, Delayed skeletal matura... OMIM:194190
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Elbow contracture, Deep philtrum, Pierre-Robin seque... OMIM:617137
Thakker-Donnai Syndrome
Short neck, Hemivertebrae, Downturned corners of mouth, Narrow mouth, Cervical C2/C3 vertebral fu... ORPHA:1780
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Fused cervical vertebrae, Bifid uvula, Flat acetabular roof OMIM:617159
Chromosome 16P13.3 Duplication Syndrome
Thin upper lip vermilion, Sacral dimple, Tented upper lip vermilion, Short neck, Micrognathia, Sh... OMIM:613458
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Cleft palate, Short philtrum, Sco... ORPHA:50
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Chops Syndrome
High, narrow palate, Downturned corners of mouth, Long philtrum, Tracheomalacia, Cervical C2/C3 v... OMIM:616368
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Hemivertebrae, Cleft palate, Scol... OMIM:304050
Microphthalmia, Syndromic 3
Vertebral fusion, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia OMIM:206900
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... ORPHA:268882
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Wide nasal bridge, Wide mouth, Fuse... OMIM:157800
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect ORPHA:959
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micrognathia, Contracture of the distal interphalangeal joint of the fingers, Wide nasal bridge, ... ORPHA:83617
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Wormian bones, Micrognathia, Downturned corners of mouth, Glossoptosis,... ORPHA:444077
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis OMIM:607323
Aspartylglucosaminuria
Mandibular prognathia, Joint stiffness, Abnormality of the dentition, Carious teeth, Delayed skel... ORPHA:93
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Patellar aplasia, Hip dislocation, Cleft palate, Fused cervical vertebrae, Patellar... OMIM:274000
Craniofacial Microsomia 1
Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Hemivertebrae, Cleft p... OMIM:164210
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae OMIM:306955
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical... 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 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 PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Os9tm1a(EUCOMM)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Os9tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Os9tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Os9tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Os9tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Os9tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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