Gene Summary

Name:
amplified in osteosarcoma
Synonyms:
4632413K17Rik

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 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
abnormal snout morphology Os9tm1a(EUCOMM)Wtsi HOM   Early adult 2.73×10-06

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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 Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 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
phenotypes
Matching phenotypes Source
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
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
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... OMIM:277300
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Cleft palate, Antecu... OMIM:618469
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... ORPHA:49042
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Micrognathia, Vertebral segmentation defect, Cleft palate OMIM:221950
Verheij Syndrome
Scoliosis, Long philtrum, Short nose, Wide nasal bridge, Thin upper lip vermilion, Hemivertebrae,... OMIM:615583
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Thoracic hemivertebrae, Wide nasal bridge, Fused cervical vertebrae, Prominent metopic... OMIM:309620
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Dental malocclusion, Short nose, Vertebral clefting OMIM:155050
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Pyle Disease
Scoliosis, Delayed eruption of teeth, Carious teeth, Platyspondyly, Limited elbow extension, Genu... OMIM:265900
Pycnodysostosis
Scoliosis, Wormian bones, Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent... OMIM:265800
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Hypodontia, Alveolar pr... ORPHA:2972
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Otopalatodigital Syndrome Type 1
Oligodontia, Elbow dislocation, Synostosis of carpal bones, Hypoplastic frontal sinuses, Anodonti... ORPHA:90650
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Craniosynostosis, Tarsal synost... OMIM:178110
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology, Increased bone mineral density ORPHA:1653
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Brachydactyly, Type B1
Hypoplastic sacrum, Camptodactyly, Hemivertebrae, Vertebral fusion, Delayed cranial suture closur... OMIM:113000
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormal form of the vertebral b... ORPHA:2916
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Amelogenesis imperfecta, Carious teeth, Accelerated skeletal maturation, Hyperlordosis... OMIM:618363
Asymmetric Short Stature Syndrome
Micrognathia, Fused cervical vertebrae, Lumbar scoliosis, Dental crowding OMIM:108450
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Block... OMIM:613686
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Keratoconus Posticus Circumscriptus
Cleft palate, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion,... OMIM:244600
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Cervical C2/C3 vertebral fusion, Cleft upper lip, Cleft palate, Short neck, Fused cerv... OMIM:214300
Aarskog-Scott Syndrome
Long philtrum, Delayed eruption of teeth, Camptodactyly of finger, Genu recurvatum, Joint hyperfl... ORPHA:915
Gorlin Syndrome
Scoliosis, Carious teeth, Mandibular prognathia, Hemivertebrae, Wide nasal bridge, Vertebral fusi... ORPHA:377
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Otodental Dysplasia
Long philtrum, Pulp calcification, Ankylosis, Taurodontia, Hypodontia OMIM:166750
Kbg Syndrome
Scoliosis, Long philtrum, Oligodontia, Thoracic kyphosis, Persistent open anterior fontanelle, De... ORPHA:2332
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Spondylocostal Dysostosis 5
Scoliosis, Low back pain, Hemivertebrae, Vertebral fusion, Short neck, Butterfly vertebrae OMIM:122600
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Mandibular prognathia, Hypodontia, Hemivertebrae, Vertebral... OMIM:263540
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Platyspondyly, Mandibular prognathia, Delayed skeletal matu... OMIM:601216
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Hyperplasia of the maxilla, Narrow palate, Thoracic kyphoscoliosis, Dental crowding, L... ORPHA:313892
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis OMIM:125440
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae ORPHA:1436
Frontometaphyseal Dysplasia 1
Scoliosis, Delayed eruption of teeth, Genu valgum, Anteriorly placed odontoid process, Camptodact... OMIM:305620
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Abnormal vertebr... ORPHA:2345
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Long philtrum, Short neck, Everted lower lip vermilion, Flexion contracture, Thin upper lip vermi... OMIM:616549
Osteogenesis Imperfecta, Type V
Joint hypermobility, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Recurrent fracture... OMIM:610967
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Hypophosphatasia, Adult
Carious teeth, Chondrocalcinosis, Rickets, Premature loss of permanent teeth, Recurrent fractures... OMIM:146300
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Increased ... OMIM:312150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Macroglossia, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:606612
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis, Carious teeth, Abnormality of the dentition, Reduced bone mineral densi... ORPHA:2501
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Vertebral segmentation defect, Sacral dimple OMIM:618845
Kbg Syndrome
Long philtrum, Oligodontia, Thoracic kyphosis, Delayed skeletal maturation, Vertebral fusion, Ver... OMIM:148050
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Increased ... OMIM:253290
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Genu valgum, Delayed eruption of primary teeth, Eruption f... OMIM:273050
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Koolen-De Vries Syndrome
Scoliosis, Abnormal dental enamel morphology, Narrow palate, Joint hyperflexibility, Everted lowe... ORPHA:96169
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Camptodactyly of finger, Carious teeth, Oral mucosal blisters, Hypodontia OMIM:226650
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Abnormality of dental morphology, Kyphosis, Malar prominence, Microgna... ORPHA:2522
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Scoliosis, Hyperlordosis, Failure of eruption of permanent teeth, Tarsal synos... OMIM:272460
Lateral Meningocele Syndrome
Scoliosis, Long philtrum, Joint hypermobility, Wormian bones, Short neck, Dental crowding, Biconc... OMIM:130720
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Cardiospondylocarpofacial Syndrome
Scoliosis, Long philtrum, Tarsal synostosis, Joint laxity, Synostosis of carpals/tarsals, Abnorma... OMIM:157800
Kniest Dysplasia
Platyspondyly, Arthropathy, Enlarged joints, Flexion contracture of finger, Coronal cleft vertebr... ORPHA:485
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Macroglossia, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Dental crowding, Triangular mouth, Short neck, Micrognathia, Long ... OMIM:268310
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Intermediate Osteopetrosis
Cortical sclerosis, Abnormality of dental morphology, Sandwich appearance of vertebral bodies, Re... ORPHA:210110
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Cleft pal... OMIM:118100
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Oligodontia, Tarsal synostosis, Short nose, Narrow mouth, Elb... ORPHA:90652
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia, Limitation of... ORPHA:3145
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Increased bone mi... ORPHA:3352
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Ectopic ossification in muscle tissue, Ectopic ossifi... OMIM:135100
Ring Chromosome 21 Syndrome
Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Alkaptonuria
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Smooth philtrum, Thin up... OMIM:129540
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Mosaic Trisomy 20
Scoliosis, Kyphosis, Craniofacial asymmetry, Vertebral segmentation defect, Vertebral fusion, Cle... ORPHA:1724
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Stapes Ankylosis With Broad Thumbs And Toes
Long nose, Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Thick vermilion border, Micrognathia, Fused cervical vertebrae ORPHA:530983
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Carious teeth, Abnormal vertebral morphology, Delayed ossification of carpal bones... ORPHA:93346
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Narrow palate, Short nose, Deep philtrum, Camptodactyly, Wide mouth,... OMIM:227330
Craniometadiaphyseal Dysplasia
Scoliosis, Wormian bones, Carious teeth, Genu valgum, Cubitus valgus, Dental crowding, Mandibular... OMIM:269300
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Mandibular prognathia, Recurrent fr... ORPHA:2785
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Narrow mout... OMIM:265000
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long philtrum, Radioulnar synostosis, Elbow dislocation, Shoulder dislocation, Genu varum, Malar ... OMIM:171480
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Platyspondyly, Carious teeth, Scoliosis, Recurrent fractures, Osteopenia OMIM:126550
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu valgum, Carious teeth, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum, Delayed sk... OMIM:613312
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Mucopolysaccharidosis, Type Iva
Scoliosis, Osteoporosis, Carious teeth, Genu valgum, Hyperlordosis, Joint laxity, Platyspondyly, ... OMIM:253000
Robinow Syndrome
Scoliosis, Long philtrum, Ankyloglossia, Tooth malposition, Short nose, Dental crowding, Radiouln... ORPHA:97360
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Odontogenic keratocysts of the jaw, Mandibular p... OMIM:109400
Caudal Regression Sequence
Scoliosis, Oral cleft, Joint stiffness, Abnormal vertebral segmentation and fusion, Hypoplastic v... ORPHA:3027
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Mucopolysaccharidosis Type 4
Scoliosis, Hyperlordosis, Carious teeth, Abnormal dental enamel morphology, Genu valgum, Platyspo... ORPHA:582
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Narrow palate, Open mouth, Prominent metopic ridge, Everted lower... OMIM:610443
Mucopolysaccharidosis, Type Ivb
Scoliosis, Osteoporosis, Carious teeth, Genu valgum, Hyperlordosis, Joint laxity, Platyspondyly, ... OMIM:253010
Ohdo Syndrome
Long philtrum, Thin vermilion border, Narrow mouth, Hypoplasia of teeth, Short nose, Joint laxity... OMIM:249620
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Hemivertebrae, Vertebral fusion, Block vertebrae, Short neck OMIM:271520
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Wormian bones, Carious teeth, Delayed closure of the anterior fontanelle, Limited elbow extension... OMIM:604922
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Oligodontia, Craniosynostosis, Dislocated radial head, Limitat... ORPHA:1826
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Abnormal dental enamel morphology, Thin vermilion border, Delayed eruption of teet... OMIM:257850
Atelosteogenesis, Type I
Short neck, Short nose, Coronal cleft vertebrae, Elbow dislocation, Fused cervical vertebrae, Tho... OMIM:108720
Craniolenticulosutural Dysplasia
Scoliosis, Long philtrum, Thin vermilion border, Carious teeth, Delayed eruption of teeth, Hypopl... ORPHA:50814
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Macroglossia, Carious teeth, Abnormal dental enamel morphology, Hyperlo... ORPHA:1798
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Carious teeth, Mandibular prognathia, Recurrent fractures, Osteopetrosis, Persistenc... OMIM:259710
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Vertebral fusion, Butterfly vertebrae, Hemivertebrae OMIM:206900
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th finger ORPHA:1883
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Aplasia/Hypoplasia of the patella, Hip dislocation, Genu varum, Cleft palate, Patellar... ORPHA:3320
Myhre Syndrome
Platyspondyly, Short philtrum, Narrow mouth, Mandibular prognathia, Camptodactyly, Enlarged verte... OMIM:139210
Oslam Syndrome
Carious teeth, Radioulnar synostosis ORPHA:2760
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Cervical C2/C3 vertebral fusion ORPHA:370010
Duane Retraction Syndrome
Short neck, Abnormal form of the vertebral bodies, Everted lower lip vermilion, Camptodactyly, Wi... ORPHA:233
Familial Osteodysplasia, Anderson Type
Scoliosis, Carious teeth, Failure of eruption of permanent teeth, Tooth malposition, Elbow disloc... ORPHA:2769
Cleidocranial Dysplasia
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Wormian bones, Mandibular... ORPHA:1452
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Submucous cleft hard palate, Spina bifida occulta, Retrognathia, Fused cervical vertebrae, Butter... OMIM:619227
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Stomatitis, Osteopenia, Fused cervical vertebrae, Osteomyelitis OMIM:612852
Simpson-Golabi-Behmel Syndrome
Scoliosis, Accelerated skeletal maturation, Macroglossia, Camptodactyly of finger, Short nose, Co... ORPHA:373
Apert Syndrome
Delayed eruption of teeth, Humeroradial synostosis, Narrow palate, Synostosis of carpal bones, Ma... OMIM:101200
Hemifacial Microsomia
Vertebral hypoplasia, Wide mouth, Hemivertebrae, Cleft upper lip, Cleft palate, Block vertebrae, ... OMIM:164210
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Pulp calcification, Distal symphalangism of hands, Distal foot symphalangism, Absent trapezoid bo... OMIM:606895
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Long philtrum, Cervical hemivertebrae, Short neck, Generalized joint laxity, Microretrognathia, T... ORPHA:508498
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Mandibular prognathia, Cleft palate, Bifid uvula, Cervi... ORPHA:87
Wolf-Hirschhorn Syndrome
Scoliosis, Short philtrum, Radioulnar synostosis, Downturned corners of mouth, Abnormal form of t... OMIM:194190
Frontometaphyseal Dysplasia 2
Scoliosis, Dislocated radial head, Short philtrum, Congenital hip dislocation, Pierre-Robin seque... OMIM:617137
Thakker-Donnai Syndrome
Narrow mouth, Downturned corners of mouth, Hemivertebrae, Cervical C2/C3 vertebral fusion, Short ... ORPHA:1780
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Short neck, Vertebral fusion, Hemivertebrae ORPHA:94095
Craniolenticulosutural Dysplasia
Scoliosis, Long philtrum, Carious teeth, Delayed eruption of teeth, Delayed closure of the anteri... OMIM:607812
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Charcot-Marie-Tooth Disease Type 4C
Drooling, Difficulty in tongue movements, Abnormality of the vertebral column, Vertebral fusion, ... ORPHA:99949
Aicardi Syndrome
Scoliosis, Short philtrum, Prominence of the premaxilla, Cleft upper lip, Cleft palate, Block ver... ORPHA:50
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Aicardi Syndrome
Scoliosis, Prominence of the premaxilla, Hemivertebrae, Cleft upper lip, Cleft palate, Block vert... OMIM:304050
Arnold-Chiari Malformation Type I
Scoliosis, Anteriorly placed odontoid process, Cervical C2/C3 vertebral fusion, Stiff neck, Fused... ORPHA:268882
Thrombocytopenia-Absent Radius Syndrome
Carpal bone hypoplasia, Fused cervical vertebrae, Carpal synostosis, Hip dislocation, Genu varum,... OMIM:274000
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect ORPHA:959
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Narrow mouth, Contracture of the distal interphalangeal joint of the fingers, Wide nasal bridge, ... ORPHA:83617
Aspartylglucosaminuria
Scoliosis, Macroglossia, Carious teeth, Short nose, Abnormal vertebral morphology, Beaking of ver... ORPHA:93
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... ORPHA:1031
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Long philtrum, Macroglossia, Wormian bones, Hip subluxation, Short nose, Downturned corners of mo... ORPHA:444077
Duane-Radial Ray Syndrome
Scoliosis, Fused cervical vertebrae, Spina bifida occulta OMIM:607323
Aplasia Of Lacrimal And Salivary Glands
Xerostomia, Carious teeth OMIM:180920
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Abnormal hip joint morphology, Hypo... ORPHA:51608

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 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