Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
centrosomal protein 57
Synonyms:
4931428M20Rik,  3110002L15Rik,  Tsp57,  4921510P06Rik

IMPC Data Collections

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

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.

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 Cep57 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.

The table below shows human diseases associated to Cep57 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mosaic Variegated Aneuploidy Syndrome
Neoplasm, Stomach cancer, Nephroblastoma, Rhabdomyosarcoma, Myelodysplasia, Intestinal polyposis,... ORPHA:1052
Mosaic Variegated Aneuploidy Syndrome 2
Micrognathia, Rhizomelia, Craniosynostosis OMIM:614114

The table below shows human diseases predicted to be associated to Cep57 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Spinal dysplasia, Thoracolumbar scoliosis, Absent... OMIM:601344
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Lumbar hyperlordosis, Narrow vertebral interpedicular distance, ... OMIM:602557
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Short distal phalanx of finger, Hypoplastic vertebral bodies, Lambdoida... OMIM:601370
Odontoid Hypoplasia
Atlantoaxial instability, Cervical instability, Dystopic os odontoideum, Hypoplasia of the odonto... OMIM:613628
Dysosteosclerosis
Irregular vertebral endplates, Recurrent fractures, Hypoplastic vertebral bodies, Increased bone ... ORPHA:1782
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Short 1st metacarpal, Scoliosis, Short hallux, Ectopic oss... OMIM:135100
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Short femoral neck, Hyperconvex vertebral body endplates, Ovoid vertebral bodies, Hypo... OMIM:184255
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies OMIM:601187
Richieri Costa-Da Silva Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Generalized bone demineralization, Decreased anterio... ORPHA:3101
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Dysosteosclerosis
Irregular vertebral endplates, Sclerosis of skull base, Hypoplastic vertebral bodies, Short stern... OMIM:224300
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Delayed epiphyseal ossification, Narrow vertebral interpedicular dista... ORPHA:93352
Metatropic Dysplasia
Kyphosis, Joint stiffness, Coarse metaphyseal trabecularization, Camptodactyly of finger, Scolios... ORPHA:2635
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb... OMIM:601216
Gm1-Gangliosidosis, Type Ii
Beaking of vertebral bodies, Joint stiffness, Hypoplastic vertebral bodies, Platyspondyly, Scolio... OMIM:230600
Schneckenbecken Dysplasia
Advanced ossification of carpal bones, Narrow vertebral interpedicular distance, Short ribs, Plat... OMIM:269250
Infantile Liver Failure Syndrome 3
Beaking of vertebral bodies, Death in childhood, Platyspondyly, Hypoplastic vertebral bodies OMIM:618641
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... ORPHA:2916
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal form of the vertebral... ORPHA:40
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Platyspondyly, 11 pairs of ribs, Microme... OMIM:215140
Gm1-Gangliosidosis, Type I
Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Joint stiffness, Short neck,... OMIM:230500
Patterson Pseudoleprechaunism Syndrome
Kyphoscoliosis, Cervical platyspondyly, Ovoid thoracolumbar vertebrae, Irregular sclerotic endpla... OMIM:169170
Diastrophic Dysplasia
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Costal cartilage calcification, Scoliosis,... OMIM:222600
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Short neck, Meso... ORPHA:2347
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Platyspondyly, Hip o... OMIM:604864
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Increased bone mineral density, Osteopenia, Micrognathia, Thin bony corte... ORPHA:85184
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Platyspondyly, Stiff neck OMIM:616583
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Kyphoscoliosis, Hypoplastic vertebral bodies, Hemivertebrae, Short middle ... OMIM:263540
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scolio... ORPHA:3027
Brachytelephalangic Chondrodysplasia Punctata
Spinal canal stenosis, Calcaneal epiphyseal stippling, Short distal phalanx of finger, Butterfly ... ORPHA:79345
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Platyspondyly, Scol... OMIM:609223
Acrodysostosis 1 With Or Without Hormone Resistance
Spinal canal stenosis, Hypoplastic vertebral bodies, Narrow vertebral interpedicular distance, Ca... OMIM:101800
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Hypoplastic vertebral bodies, Craniosynostosis ORPHA:2163
Opsismodysplasia
Joint stiffness, Hypoplastic vertebral bodies, Abnormally ossified vertebrae ORPHA:2746
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Platyspondyly, Scoliosis ORPHA:3180
Axial Spondylometaphyseal Dysplasia
Thoracic scoliosis, Delayed ossification of carpal bones, Short ribs, Osteopenia, Platyspondyly, ... ORPHA:168549
Kniest-Like Dysplasia, Lethal
Wide anterior fontanel, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Short neck, Rhiz... OMIM:245190
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short distal phalanx of finger, Lumbar hyperlordosis, Abnormal bone ossification, Reduced bone mi... ORPHA:93315
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Sclerotic vertebral body, Generalize... ORPHA:2790
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Irregular vertebral endplates, Scoliosis, Carpal bone hypoplasia, Caudal interpedicular narrowing... OMIM:603546
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:609813
Greenberg Dysplasia
Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossified vertebrae, ... ORPHA:1426
Acromesomelic Dysplasia 1
Beaking of vertebral bodies, Short toe, Lumbar hyperlordosis, Thoracolumbar interpediculate narro... OMIM:602875
Opsismodysplasia
Hypoplastic vertebral bodies, Short neck, Scoliosis, Severe platyspondyly, Rhizomelia, Short foot... OMIM:258480
Congenital Amegakaryocytic Thrombocytopenia
Short neck, Scoliosis, Abnormal form of the vertebral bodies, Decreased skull ossification ORPHA:3319
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal vertebral morphology, Restricted large joint movement, Platyspondyly ORPHA:163665
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly ORPHA:93304
Epiphyseal Dysplasia, Multiple, 7
Vertebral wedging, Advanced ossification of carpal bones, Platyspondyly, Short femoral neck OMIM:617719
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Osteogenesis Imperfecta
Osteopenia, Biconcave vertebral bodies, Micromelia, Rhizomelia, Abnormal cortical bone morphology... ORPHA:666
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short metacarpal, Short femur, Micrognathia, Short neck, 11 pairs... OMIM:108720
Brachyolmia Type 1, Toledo Type
Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Precocious costochondra... OMIM:271630
Mucopolysaccharidosis, Type Iiid
Joint stiffness, Thoracic scoliosis, Hypoplastic vertebral bodies, Short neck, Ovoid thoracolumba... OMIM:252940
Diastrophic Dysplasia
Kyphosis, Joint stiffness, Increased bone mineral density, Micrognathia, Camptodactyly of finger,... ORPHA:628
Craniofaciofrontodigital Syndrome
Short neck, Joint hypermobility, Hypoplastic vertebral bodies OMIM:114620
Fibrochondrogenesis 1
Wide anterior fontanel, Joint contracture of the hand, Short ribs, Small hand, Platyspondyly, Sho... OMIM:228520
Osteogenesis Imperfecta, Type Xix
Recurrent fractures, Osteopenia, Scoliosis, Biconcave vertebral bodies, Rhizomelia, Vertebral wed... OMIM:301014
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Short ribs, Short neck, Micromelia, Abnormal form of the vertebral ... ORPHA:3144
Osteogenesis Imperfecta, Type V
Recurrent fractures, Limited pronation/supination of forearm, Hyperextensibility of the finger jo... OMIM:610967
Brachydactylous Dwarfism, Mseleni Type
Short toe, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Hip osteoarthritis, Knee osteo... ORPHA:2619
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Small hand, Platyspondyly, Short palm, Hypoplasia of the odontoid process, Irregularity of verteb... ORPHA:85172
Pseudoachondroplasia
Platyspondyly, Distal joint laxity, Joint stiffness, Scoliosis, Joint laxity, Hypoplasia of the o... ORPHA:750
Myhre Syndrome
Joint stiffness, Short toe, Platyspondyly, Enlarged vertebral pedicles, Short neck, Camptodactyly... OMIM:139210
Pde4D Haploinsufficiency Syndrome
Irregular vertebral endplates, Short toe, Micrognathia, Upper limb undergrowth, Caudal interpedic... ORPHA:439822
Pyle Disease
Reduced bone mineral density, Platyspondyly, Scoliosis, Limited elbow extension, Hypoplastic fron... OMIM:265900
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Increased intervertebral space, Horizontal sacrum, Micrognathia, Platyspond... OMIM:256050
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Platyspondyly, Micromelia, Limitation of joint mobility ORPHA:168555
Kuskokwim Syndrome
Joint stiffness, Aplasia/Hypoplasia of the patella, Scoliosis, Abnormal form of the vertebral bod... ORPHA:1149
Brachyolmia Type 2
Platyspondyly OMIM:613678
Cartilage-Hair Hypoplasia
Lumbar hyperlordosis, Narrow vertebral interpedicular distance, Scoliosis, Limited elbow extensio... OMIM:250250
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Interverteb... ORPHA:93284
Alagille Syndrome
Vertebral segmentation defect, Short distal phalanx of finger, Micrognathia, Abnormal form of the... ORPHA:52
Multiple Sulfatase Deficiency
Hypoplastic vertebral bodies OMIM:272200
Bruck Syndrome 1
Kyphosis, Hip contracture, Platyspondyly, Scoliosis, Osteoporosis, Joint laxity, Elbow flexion co... OMIM:259450
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Gm1 Gangliosidosis Type 1
Beaking of vertebral bodies T12-L3, Platyspondyly, Hypoplastic vertebral bodies ORPHA:79255
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Aplasia/Hypoplasia involving bones of the thorax, Rhizomelic leg shortening, Short ribs, Microgna... ORPHA:397715
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Short middle phalanx of the 2nd finger, Short 5th metacarpal, Osteoporosis of vert... OMIM:156510
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, A... OMIM:184100
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short clavicles, Flexion contracture, Short ribs, Absent middle phalanx of 3rd finger, Micrognath... OMIM:308050
Morquio Syndrome C
Platyspondyly OMIM:252300
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Laryngotracheomalacia, Kyphoscoliosis, Lumbar hyperlordosis, Delayed ossification of carpal bones... OMIM:271510
Metatropic Dysplasia
Kyphosis, Kyphoscoliosis, Relatively short spine, Flexion contracture, Short ribs, Platyspondyly,... OMIM:156530
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Tongue-like lumbar vertebral deformities, Micrognathia, Platyspondyly, Shor... OMIM:264180
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Platyspondyly, Micromelia ORPHA:93283
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Platyspondyly, Hypoplasia of the femoral head, Short femoral neck, Rh... OMIM:619598
Acrodysostosis With Multiple Hormone Resistance
Spinal canal stenosis, Short toe, Hypoplastic vertebral bodies, Narrow vertebral interpedicular d... ORPHA:280651
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platyspondyly, Limited elbow extension,... OMIM:271650
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis, Lower limb underg... OMIM:612847
Stuve-Wiedemann Syndrome 2
Scoliosis, Neonatal death, Death in adolescence, Camptodactyly, Stillbirth OMIM:619751
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis, Platyspondyly OMIM:271600
Mucolipidosis Ii Alpha/Beta
Atlantoaxial dislocation, Craniosynostosis, Lower thoracic interpediculate narrowness, Beaking of... OMIM:252500
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Hypoplasia of the ulna, Rhizomelia, Generalized bone demineralization, Intervertebral... OMIM:143095
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Short ... OMIM:259440
Hypochondroplasia
Spinal canal stenosis, Short toe, Osteoarthritis, Scoliosis, Abnormal form of the vertebral bodie... ORPHA:429
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Flexion contracture, Short femur, Micrognathia, Platyspondyly, Short neck, 11 pa... OMIM:210710
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Biconcave vertebral bodies, Joint laxity, Increased susceptibility t... OMIM:613982
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Spina bifida occulta at S1, Short 4th metacarpal, Abnormal vertebral morphology, Hypop... OMIM:601829
Kbg Syndrome
Short neck, Vertebral arch anomaly, Thoracic kyphosis, Short palm, Vertebral fusion OMIM:148050
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Premature osteoarthritis, Limb joint contracture, Abnormal enchondral ossification... ORPHA:93314
Multiple Epiphyseal Dysplasia Type 4
Upper limb undergrowth, Rhizomelia, Premature osteoarthritis, Joint stiffness, Flexion contractur... ORPHA:93307
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process OMIM:612913
Eiken Syndrome
Delayed epiphyseal ossification, Short toe, Abnormal bone ossification, Abnormal trabecular bone ... ORPHA:79106
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Abnorm... OMIM:166600
Smith-Mccort Dysplasia 1
Kyphosis, Beaking of vertebral bodies, Multicentric femoral head ossification, Atlantoaxial insta... OMIM:607326
X-Linked Dominant Chondrodysplasia Punctata
Kyphoscoliosis, Anterior rib punctate calcifications, Flexion contracture, Abnormally ossified ve... ORPHA:35173
Hajdu-Cheney Syndrome
Short distal phalanx of finger, Kyphosis, Recurrent fractures, Short toe, Absent frontal sinuses,... ORPHA:955
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Sacral dimple, Absence of the sacrum, Spina bifida occulta OMIM:182940
Bruck Syndrome
Recurrent fractures, Kyphosis, Joint stiffness, Platyspondyly, Scoliosis, Osteoporosis, Arthrogry... ORPHA:2771
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs due to multip... OMIM:615220
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Cervi... ORPHA:93346
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Micrognathia, Neonatal death, Widening of cervical spinal canal OMIM:253310
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Camptod... OMIM:113000
Atelosteogenesis Type Iii
Laryngotracheomalacia, Absent humerus, Micrognathia, Short tibia, Abnormal cervical curvature, Ep... ORPHA:56305
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... OMIM:313400
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Scoliosis, Hyperlordosis, C1-C2 subluxation, Hypoplasia of the odontoid process, D... OMIM:184250
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Osteopenia, Platyspondyly, Scoliosis, Osteoporosis OMIM:126550
Geroderma Osteodysplastica
Beaking of vertebral bodies, Recurrent fractures, Abnormal bone ossification, Platyspondyly, Bico... ORPHA:2078
Atelosteogenesis Type Ii
Short metacarpal, Short ribs, Short femur, Micrognathia, Short neck, Micromelia, Rhizomelic arm s... ORPHA:56304
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Short humerus, Rhizomelia, Short metatarsal, Short metacarpal OMIM:601438
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Vertebral fusion OMIM:206900
Pseudoachondroplasia
Limited hip extension, Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Delayed epiph... OMIM:177170
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Delayed calcaneal ossification, Platysp... OMIM:183900
Metaphyseal Acroscyphodysplasia
Short toe, Craniosynostosis, Platyspondyly, Biconcave vertebral bodies, Scoliosis, Micromelia, Sh... OMIM:250215
Spondyloepiphyseal Dysplasia Congenita
Laryngotracheomalacia, Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Abnormally oss... ORPHA:94068
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Delayed ossification of carpal bones, Short neck, Platyspondyly, Scoliosis, Carpa... OMIM:184252
Camptodactyly Syndrome, Guadalajara, Type I
Lumbar hyperlordosis, Absent ethmoidal sinuses, Short metatarsal, Horizontal sacrum, Camptodactyl... OMIM:211910
Bruck Syndrome 2
Flexion contracture, Osteopenia, Platyspondyly, Elbow flexion contracture, Increased susceptibili... OMIM:609220
Wiedemann-Rautenstrauch Syndrome
Kyphoscoliosis, Hypoplastic vertebral bodies, Short femur, Osteopenia, Camptodactyly of finger, S... ORPHA:3455
Larsen Syndrome
Beaking of vertebral bodies, Short metacarpal, Tracheomalacia, Spondylolysis, Scoliosis, Spina bi... OMIM:150250
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Scoliosis, Osteoporosis, Vertebral compression fracture OMIM:616507
Mucopolysaccharidosis, Type Iva
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Scoliosis, Osteoporosi... OMIM:253000
Czech Dysplasia
Irregular vertebral endplates, Short toe, Short metacarpal, Flexion contracture, Platyspondyly, S... OMIM:609162
Diamond-Blackfan Anemia 1
Hypoplastic coccygeal vertebrae, Absent thumb, Hypoplasia of the radius, Micrognathia, Hypoplasti... OMIM:105650
Geroderma Osteodysplasticum
Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscoliosis, Recurrent fractures, ... OMIM:231070
Kniest Dysplasia
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Flexion contracture of f... ORPHA:485
Mucopolysaccharidosis, Type Ivb
Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Hyperlordosis, Joint laxity, Ovoid vertebral bo... OMIM:253010
Femoral-Facial Syndrome
Short fifth metatarsal, Dysplastic sacrum, Short fourth metatarsal, Hemivertebrae, Micrognathia, ... OMIM:134780
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Contracture of the distal interphalangeal joint of the fingers, Microgn... ORPHA:83617
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short 1st metacarpal, 11 pairs of ribs, Absent sternal ossifi... OMIM:114290
Osteogenesis Imperfecta, Type Viii
Kyphosis, Recurrent fractures, Wide anterior fontanel, Short metacarpal, Osteopenia, Decreased ca... OMIM:610915
Dyggve-Melchior-Clausen Syndrome, X-Linked
Lumbar hyperlordosis, Hypoplastic sacrum, Platyspondyly, Short neck, Scoliosis, Short femoral nec... OMIM:304950
White-Sutton Syndrome
Micrognathia, Short neck, Joint laxity, Hypoplastic cervical vertebrae OMIM:616364
Alagille Syndrome 1
Hypoplasia of the ulna, Hemivertebrae, Butterfly vertebral arch, Short distal phalanx of finger OMIM:118450
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular vertebral endplates, Irregular tarsal ossification, Ivory epiphyses of the phalanges of... OMIM:226980
Achondrogenesis, Type Ia
Short clavicles, Severe limb shortening, Hypoplastic sacrum, Hypoplasia of the radius, Short ribs... OMIM:200600
Dyggve-Melchior-Clausen Disease
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Short metatarsal, Short metacarpal, ... OMIM:223800
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Micrognathia, Arthrogryposis multiplex congenita, Hypoplastic coccygeal vertebrae OMIM:619512
Smith-Mccort Dysplasia 2
Short neck, Platyspondyly, Hypoplasia of the odontoid process, Short metatarsal, Short metacarpal OMIM:615222
Mucopolysaccharidosis, Type Vii
Kyphosis, Joint stiffness, Flexion contracture, Anterior beaking of lumbar vertebrae, Platyspondy... OMIM:253220
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flexion contracture, Platyspondyly, Short neck, Short femoral neck, Thoracic kyphosis, Hypoplasia... OMIM:300232
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Atlantoaxial instability, Abnormality of the vertebral endplates, Pl... ORPHA:239
Iniencephaly
Hyperlordosis, Rhizomelia, Mandibular aplasia, Absent vertebra, Arthrogryposis multiplex congenita ORPHA:63259
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Spinal canal stenosis, Delayed epiphyseal ossification, Flexion contracture, Osteopenia, Microgna... OMIM:616007
Multiple Synostoses Syndrome 1
Spinal canal stenosis, Carpal synostosis, Proximal/middle symphalangism of 4th toe, Short sternum... OMIM:186500
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Scoliosis, Short 5th finger, Joint laxity, S... OMIM:305400
Hurler Syndrome
Kyphosis, Joint stiffness, Short clavicles, Flexion contracture, Calvarial hyperostosis, Short ne... OMIM:607014
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Craniosynostosis, Cervical instab... ORPHA:508533
Fanconi Anemia, Complementation Group C
Absent thumb, Flexion contracture, Short thumb, Prolonged G2 phase of cell cycle, Absent radius, ... OMIM:227645
Spondylocarpotarsal Synostosis Syndrome
Vertebral segmentation defect, Carpal synostosis, C2-C3 subluxation, Short neck, Scoliosis, Hypop... OMIM:272460
Currarino Syndrome
Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum ORPHA:1552
Codas Syndrome
Delayed ossification of carpal bones, Generalized joint laxity, Short humerus, Scoliosis, Lumbar ... OMIM:600373
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short ribs, Atlantoaxial instability, Micrognathia, Platyspondyly, Scoliosis, Micromelia, Abnorma... OMIM:271665
Mucopolysaccharidosis, Type Vi
Joint stiffness, Kyphoscoliosis, Lumbar hyperlordosis, Flexion contracture, Ovoid vertebral bodie... OMIM:253200
Spondyloepimetaphyseal Dysplasia, X-Linked
Kyphosis, Short clavicles, Lumbar hyperlordosis, Delayed ossification of carpal bones, Anterior w... OMIM:300106
Craniofacial Microsomia
Hemivertebrae, Micrognathia, Scoliosis, Vertebral hypoplasia, Block vertebrae OMIM:164210
Phocomelia, Schinzel Type
Aplasia of the ulna, Hand oligodactyly, Hypoplasia of the radius, Micrognathia, Short neck, Micro... ORPHA:2879
Fanconi Anemia, Complementation Group E
Absent radius, Short thumb, Prolonged G2 phase of cell cycle, Absent thumb OMIM:600901
Fanconi Anemia, Complementation Group A
Absent radius, Short thumb, Prolonged G2 phase of cell cycle, Absent thumb OMIM:227650
Fanconi Anemia, Complementation Group D2
Absent thumb, Short thumb, Prolonged G2 phase of cell cycle, Aplasia of the 1st metacarpal, Absen... OMIM:227646
Mosaic Variegated Aneuploidy Syndrome
Neoplasm, Stomach cancer, Nephroblastoma, Rhabdomyosarcoma, Myelodysplasia, Intestinal polyposis,... ORPHA:1052
Mosaic Variegated Aneuploidy Syndrome 2
Micrognathia, Rhizomelia, Craniosynostosis OMIM:614114

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 Cep57

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 Cep57.

No publications found that use IMPC mice or data for Cep57.

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MGI Allele Allele Type Produced
Cep57tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cep57tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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