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Gene: Ring1 MGI:1101770

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ring finger protein 1
Synonyms:
Ring1A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Ring1 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 Ring1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cervical Vertebral Bridge
Abnormality of the vertebral column OMIM:118000
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis ORPHA:93304
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi... OMIM:609813
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis ORPHA:3180
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Spondylosis, Cervical
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis OMIM:184300
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Sprengel ... ORPHA:40
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Scoliosis, Pectus carinatum ORPHA:3268
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver... ORPHA:2790
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of the vertebral bodies ORPHA:1354
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Irregular vertebral endplates, Platyspondyly, Schmorl's node OMIM:604864
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal vertebral morphology ORPHA:163665
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebrae ORPHA:2064
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ... ORPHA:1801
Morquio Syndrome C
Platyspondyly OMIM:252300
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Short neck ORPHA:2015
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Second Metatarsal-Metacarpal Syndrome
Platyspondyly OMIM:269630
Spinal Dysplasia, Anhalt Type
Thoracolumbar scoliosis, Absent spinous processes of lower thoracic and lumbar vertebrae, Narrow ... OMIM:601344
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Scoliosis ORPHA:1570
Kuskokwim Syndrome
Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies ORPHA:1149
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Diaphanospondylodysostosis
Short neck, Missing ribs, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... ORPHA:66637
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the ... ORPHA:2635
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Vertebral compression fracture, Biconcave vertebral bodies OMIM:613982
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis OMIM:259440
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Abnormal thorax morphology, Abnormal vertebral morphology, Spina bifi... OMIM:102510
Myotonia With Skeletal Abnormalities And Mental Retardation
Bell-shaped thorax, Vertebral wedging, Kyphoscoliosis, Pectus carinatum OMIM:255710
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid... OMIM:184100
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae OMIM:173800
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis OMIM:309620
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck ORPHA:2234
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... ORPHA:2522
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... ORPHA:64755
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Clavicular pseudarthrosis, Cupped ribs, Hypoplasia of the... OMIM:156530
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest ORPHA:93267
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1836
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short neck, Kyphosis, Sh... ORPHA:2311
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebrae, Flaring ... ORPHA:168549
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaki... OMIM:609616
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Fused cervical vertebrae, Scoliosis, Short neck OMIM:618469
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... ORPHA:2180
Lethal Congenital Contracture Syndrome Type 1
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs OMIM:617405
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral ... OMIM:618395
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ... OMIM:619698
Mosaic Trisomy 14
Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs ORPHA:2759
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Fibrochondrogenesis
Hypoplastic scapulae, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies,... ORPHA:2021
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly OMIM:608940
Femoral-Facial Syndrome
Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Vertebral segmentation defect, S... ORPHA:1988
Achondrogenesis Type 1B
Short thorax, Abnormal rib morphology, Narrow chest, Short neck ORPHA:93298
White Forelock With Malformations
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology ORPHA:2475
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs OMIM:615633
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Juberg-Hayward Syndrome
Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis ORPHA:2319
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Short neck, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Abnormal rib morphology, Pectus carinatum ORPHA:93351
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib morphology, Spinal canal stenosis... ORPHA:582
Diastrophic Dysplasia
Abnormal clavicle morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:628
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Kyphosis, Abnormal rib mo... ORPHA:392
Osteogenesis Imperfecta, Type Ii
Beaded ribs, Thin ribs, Bell-shaped thorax, Platyspondyly, Thoracic hypoplasia OMIM:166210
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Platyspondyly, Thin ribs OMIM:300863
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Thin ribs, Wafer-thin platyspondy... OMIM:151210
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Vertebral compres... ORPHA:93352
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis OMIM:252900
Vacterl Association With Hydrocephalus
Abnormality of the vertebral column, Abnormal vertebral morphology OMIM:276950
Osteogenesis Imperfecta, Type Xvi
Multiple rib fractures, Beaded ribs, Platyspondyly, Narrow chest, Vertebral compression fracture OMIM:616229
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:2050
3M Syndrome
Scapular winging, Short neck, Hyperlordosis, Increased vertebral height, Kyphosis, Short thorax, ... ORPHA:2616
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Biconcave vertebral bodies, Thin ribs OMIM:617952
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Short tho... OMIM:200600
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Abnormal rib morphology, Short neck, Pectus carinatum ORPHA:3082
Cooper-Jabs Syndrome
Abnormal rib morphology, Scoliosis, Missing ribs ORPHA:1488
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Abnormality of the costochondral junction, Atlantoaxial instability, Punctate ... ORPHA:79345
Melnick-Needles Syndrome
Short thorax, Abnormal rib morphology, Narrow chest, Short clavicles, Scoliosis, Anisospondyly ORPHA:2484
Phaver Syndrome
Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bodies ORPHA:2876
Prune Belly Syndrome
Pectus excavatum, Vertebral segmentation defect, Abnormal rib morphology, Scoliosis ORPHA:2970
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis, Thin ribs OMIM:259420
Axial Mesodermal Dysplasia Spectrum
Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebr... ORPHA:1834
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Thin rib... ORPHA:958
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs OMIM:200610
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Grant Syndrome
Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest ORPHA:2097
Dysosteosclerosis
Sclerotic scapulae, Increased intervertebral space, Hypoplastic vertebral bodies, Irregular verte... OMIM:224300
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Thin ribs, Platyspondyly, Narrow chest, Scoliosis, Br... OMIM:613848
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Abnormal rib morphology, Pectus carinatum ORPHA:3068
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Campomelia, Cumming Type
Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib morphology ORPHA:1318
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:2769
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Kyphosis, Thin ribs, Platyspondyly, Scoliosis, Vertebral compression fracture OMIM:610915
Bent Bone Dysplasia Syndrome 2
Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short ribs, Butterf... OMIM:620076
Alagille Syndrome
Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Sp... ORPHA:52
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Radio-Renal Syndrome
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:3015
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology ORPHA:93317
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Abnormal rib morphology, H... ORPHA:2911
Trisomy 13
Kyphosis, Abnormal rib morphology, Narrow chest, Scoliosis ORPHA:3378
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs ORPHA:3301
Pyknoachondrogenesis
Short thorax, Poorly ossified vertebrae, Enlarged thorax, Unossified sacrum, Short ribs, Horizont... ORPHA:3003
Cenani-Lenz Syndrome
Scoliosis, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:3258
Mosaic Trisomy 8
Short neck, Abnormal rib morphology, Vertebral segmentation defect, Narrow chest, Scoliosis ORPHA:96061
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology ORPHA:3242
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Abnormal sacrum morphology, Abnormal rib morphology... ORPHA:1452
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of lower rib cag... ORPHA:175
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal intervertebral disk morphology, Abnormal rib morphology, ... ORPHA:887
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Undulate ribs, Platyspondyly, Thoracic hypoplasia OMIM:211350
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Hypophosphatasia
Abnormal rib morphology, Narrow chest ORPHA:436
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Hurler Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Spinal canal stenosis, Scolios... ORPHA:93473
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology ORPHA:2145
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Scoliosis ORPHA:1300
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Kyphosis, Abnormal rib morphology, Scoliosis ORPHA:2215
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral column ORPHA:77301
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Shoulder flexion contracture, Hyperlordosis, Pectus excavatum, Kyp... ORPHA:800
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal rib morphology, Abnormal lumbar spine morphology, Scoliosi... ORPHA:249
Otopalatodigital Syndrome Type 2
Abnormal vertebral segmentation and fusion, Abnormal rib morphology, Narrow chest, Scoliosis ORPHA:90652
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Abnormal rib morphology, Short neck ORPHA:488434
Osteogenesis Imperfecta
Multiple rib fractures, Cervical kyphosis, Pectus excavatum, Kyphosis, Abnormal rib morphology, V... ORPHA:666
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Missing ribs ORPHA:1647
Trisomy 1Q
Short thorax, Abnormal rib morphology ORPHA:261344
Antley-Bixler Syndrome
Abnormal rib morphology, Narrow chest ORPHA:83
Myhre Syndrome
Platyspondyly, Abnormal rib morphology ORPHA:2588
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Scoliosis, Abnormal rib morphology, Abnormal form of the vertebral ... ORPHA:581
Monosomy 9P
Abnormality of the vertebral column, Abnormal rib morphology, Scoliosis, Short neck ORPHA:261112
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation d... ORPHA:373
Ulbright-Hodes Syndrome
Short neck, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin ribs, Short sternum, Sho... ORPHA:3404
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Abnormal rib morphology, Narrow chest, Scoliosis, Abnormal vertebral morpho... ORPHA:95699
Vater/Vacterl Association
Abnormal sternum morphology, Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis OMIM:192350
Smith-Lemli-Opitz Syndrome
Short neck, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis ORPHA:818
Alagille Syndrome 1
Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch OMIM:118450
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Platyspondyly, Abnormal rib morphology, Scoliosis ORPHA:534
Dextrocardia
Abnormal rib morphology ORPHA:1666
Charge Syndrome
Abnormal rib morphology, Hemivertebrae, Scoliosis ORPHA:138
Trisomy 18
Abnormal rib morphology ORPHA:3380
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Ear-Patella-Short Stature Syndrome
Abnormal rib morphology, Aplastic clavicle ORPHA:2554
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Charge Syndrome
Scoliosis, Abnormal rib morphology, Down-sloping shoulders, Hemivertebrae OMIM:214800
Townes-Brocks Syndrome
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:857
Autosomal Recessive Malignant Osteopetrosis
Abnormal rib morphology, Narrow chest ORPHA:667
Kindler Epidermolysis Bullosa
Abnormal rib morphology ORPHA:2908

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 Ring1

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 Ring1.

No publications found that use IMPC mice or data for Ring1.

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MGI Allele Allele Type Produced
Ring1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ring1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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