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Gene: Cep57 MGI:1915551

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

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 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
Rhabdomyosarcoma, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestinal polyposis, Nephrob... ORPHA:1052
Mosaic Variegated Aneuploidy Syndrome 2
Craniosynostosis, Rhizomelia, Micrognathia 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
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... OMIM:601344
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Holoprosencephaly, Semilobar, With Craniosynostosis
Hypoplastic vertebral bodies, Short distal phalanx of finger, Coronal craniosynostosis, Lambdoida... OMIM:601370
Odontoid Hypoplasia
Hypoplasia of the odontoid process, Cervical instability, Atlantoaxial instability, Dystopic os o... OMIM:613628
Dysosteosclerosis
Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hypoplastic verte... ORPHA:1782
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Delayed epiphyseal ossification, Micromelia, Central vertebral hypoplasia, Lumbar ... OMIM:602557
Fibrodysplasia Ossificans Progressiva
Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification in ligament tissue, P... OMIM:135100
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies OMIM:601187
Richieri Costa-Da Silva Syndrome
Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Kyphoscoliosis... ORPHA:3101
Hypochondroplasia
Lumbar hyperlordosis, Limited elbow extension, Aplasia/hypoplasia of the extremities, Widened int... OMIM:146000
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hypoplasia of the odontoid process, Short femoral neck, Hyperconvex vertebral body endplates, Sco... OMIM:184255
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb... OMIM:601216
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Dysosteosclerosis
Platyspondyly, Osteopenia, Absent paranasal sinuses, Sclerosis of hand bone, Sclerosis of skull b... OMIM:224300
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Platyspondyly, Delayed epiphyseal ossification, Central vertebral ... ORPHA:93352
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Micromelia, Coarse metaphy... ORPHA:2635
Greenberg Dysplasia
Fractured rib, Supernumerary vertebral ossification centers, Micrognathia, Neonatal death, Decrea... OMIM:215140
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Joint stiffness, Hypoplastic vertebral bodies, Beaking of ... OMIM:230600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Joint hypermobility, Narrow vertebral interpedicular distance, Carpal bone hypopla... OMIM:618395
Infantile Liver Failure Syndrome 3
Platyspondyly, Beaking of vertebral bodies, Death in childhood, Hypoplastic vertebral bodies OMIM:618641
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Advanced tarsal ossification, Short ribs, Narrow vertebral i... OMIM:269250
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Hemivertebrae, Vertebral fus... ORPHA:2916
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Joint stiffness, Joint hyperm... ORPHA:40
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Gm1-Gangliosidosis, Type I
Joint stiffness, Death in infancy, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral... OMIM:230500
Lethal Kniest-Like Dysplasia
Platyspondyly, Mesomelic/rhizomelic limb shortening, Short ribs, Hypoplastic vertebral bodies, Sh... ORPHA:2347
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ... OMIM:604864
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Joint stiffness, Missing ribs, Hypoplastic vertebral bodies, Sc... ORPHA:3027
Diastrophic Dysplasia
Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Lumbar hyperlordosis, Hip contra... OMIM:222600
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Atlantoaxial i... ORPHA:79345
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Micrognathia, Thin bony cortex, Increased bone mineral density, Wide anterior fontane... ORPHA:85184
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Intervertebral space narrowing, Decreased... OMIM:609223
Acrodysostosis 1 With Or Without Hormone Resistance
Spinal canal stenosis, Epiphyseal stippling, Narrow vertebral interpedicular distance, Hypoplasti... OMIM:101800
Holoprosencephaly-Craniosynostosis Syndrome
Hypoplastic vertebral bodies, Short distal phalanx of finger, Craniosynostosis ORPHA:2163
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Vertebral wedging, Stiff neck, Joint stiffness, Kyphoscoliosis, Beaking of vertebr... OMIM:616583
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, T... OMIM:271530
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Platyspondyly, Short distal phalanx of finger, Biconvex vertebral ... ORPHA:93315
Opsismodysplasia
Hypoplastic vertebral bodies, Joint stiffness, Abnormally ossified vertebrae ORPHA:2746
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis, Camptodactyly of finger ORPHA:3180
Greenberg Dysplasia
Platyspondyly, Rhizomelia, Micromelia, Abnormal form of the vertebral bodies, Abnormal pelvis bon... ORPHA:1426
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Osteopenia, Posterior wedging of vertebral bodies, Aplasia/Hypoplasia of the verte... ORPHA:168549
Opsismodysplasia
Rhizomelia, Hypoplasia of the odontoid process, Hypoplastic vertebral bodies, Short neck, Severe ... OMIM:258480
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... OMIM:271630
Congenital Amegakaryocytic Thrombocytopenia
Short neck, Scoliosis, Abnormal form of the vertebral bodies, Decreased skull ossification ORPHA:3319
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Achondroplasia
Rhizomelia, Short femoral neck, Lumbar hyperlordosis, Limited elbow extension, Death in infancy, ... OMIM:100800
Atelosteogenesis, Type I
Rhizomelia, Short finger, Thoracic platyspondyly, Fibular aplasia, Micrognathia, 11 pairs of ribs... OMIM:108720
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Restricted large joint movement, Abnormal vertebral morphology ORPHA:163665
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Advanced ossification of carpal bones, Short femoral neck, Vertebral wedging OMIM:617719
Acromesomelic Dysplasia 1
Acromesomelia, Thoracolumbar kyphosis, Short toe, Lumbar hyperlordosis, Limited elbow extension, ... OMIM:602875
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Micromelia, Short finger, ... ORPHA:628
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Delayed patellar ossification, Joint hypermobility, Carpal bone hypoplasia, Posterior scalloping ... OMIM:603546
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Osteogenesis Imperfecta
Enlarged vertebral pedicles, Micrognathia, Decreased skull ossification, Osteopenia, Cervical kyp... ORPHA:666
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Joint hypermobility, Lumbar scoliosis, Advanced ossification of c... OMIM:620269
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Micrognathia, Narrow vertebral interpedicular distance, Short distal phalanx of... OMIM:620073
Mucopolysaccharidosis, Type Iiid
Elbow flexion contracture, Joint stiffness, Thoracic scoliosis, Pilonidal sinus, Hypoplastic vert... OMIM:252940
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Osteopenia, Rhizomelia, Delayed ossification of carpal bones, Lumbar hyperlordosis... OMIM:271510
Fibrochondrogenesis 1
Platyspondyly, Hypoplastic scapulae, Small hand, Rhizomelia, Joint contracture of the hand, Fibul... OMIM:228520
Schneckenbecken Dysplasia
Hypoplastic scapulae, Abnormal form of the vertebral bodies, Micromelia, Fibular hypoplasia, Shor... ORPHA:3144
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Reduced bone mineral density, Delayed ossification of carpal bones OMIM:617974
Gm1 Gangliosidosis Type 1
Platyspondyly, Beaking of vertebral bodies T12-L3, Hypoplastic vertebral bodies ORPHA:79255
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Beaking of vertebral bodies,... ORPHA:750
Myhre Syndrome
Platyspondyly, Limitation of joint mobility, Short toe, Short finger, Enlarged vertebral pedicles... OMIM:139210
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteopenia, Hip osteoarthritis, Limitation of joint mobility, Short toe, Osteoarth... ORPHA:2619
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Irregularity of vertebral bodies, ... ORPHA:85172
Osteogenesis Imperfecta, Type V
Platyspondyly, Osteopenia, Vertebral wedging, Biconcave vertebral bodies, Joint hypermobility, Li... OMIM:610967
Multiple Sulfatase Deficiency
Hypoplastic vertebral bodies OMIM:272200
Avascular Necrosis Of Femoral Head, Primary, 2
Platyspondyly OMIM:617383
Atelosteogenesis, Type Ii
Platyspondyly, Cervical kyphosis, Micromelia, Lumbar hyperlordosis, Micrognathia, Increased inter... OMIM:256050
Pyle Disease
Platyspondyly, Absent paranasal sinuses, Limited elbow extension, Reduced bone mineral density, T... OMIM:265900
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Cervical spinal canal stenosis, Twelfth rib hypoplasia, Rhizomel... ORPHA:397715
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondyloepiphyseal Dysplasia Tarda
Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Inter... ORPHA:93284
Kuskokwim Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Joint stiffness, Aplasia... ORPHA:1149
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Micromelia, Short palm ORPHA:168555
Pde4D Haploinsufficiency Syndrome
Short toe, Upper limb undergrowth, Short middle phalanx of finger, Micrognathia, Joint hypermobil... ORPHA:439822
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Alagille Syndrome
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Micrognathia, Vertebral se... ORPHA:52
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Aplasia of the distal phalanx of the 3rd finger, Absent middle phalanx of 3... OMIM:308050
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Kyphoscoliosis, Short ne... OMIM:184100
Cartilage-Hair Hypoplasia
Hypoplasia of the odontoid process, Lumbar hyperlordosis, Limited elbow extension, Joint hypermob... OMIM:250250
Pseudodiastrophic Dysplasia
Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral defor... OMIM:264180
Morquio Syndrome C
Platyspondyly OMIM:252300
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Short 5th metacarpal, Short middle phalanx of ... OMIM:156510
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Osteoporosis, Kyphosis ORPHA:2786
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Abnormal ench... OMIM:156530
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Kyphoscoliosis, Vertebral segmentation defect, Generalized joint hy... ORPHA:85198
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Increased... OMIM:259450
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Recurrent fractures, Bowing of limbs due to multiple fractures, Decreased calvaria... OMIM:259440
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Irregular vertebral endp... OMIM:612847
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Rhizomelia, Limitation of joint mobility, Short humerus, Hypoplasia of the femoral... OMIM:619598
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Micromelia, Osteoarthritis ORPHA:93283
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordosis, Limited elbow ex... OMIM:271650
Pseudodiastrophic Dysplasia
Platyspondyly, Rhizomelia, Scoliosis ORPHA:85174
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly, Hip osteoarthritis, Osteoarthritis OMIM:271600
Hypochondroplasia
Abnormal form of the vertebral bodies, Micromelia, Short toe, Joint hypermobility, Hyperlordosis,... ORPHA:429
Mucolipidosis Ii Alpha/Beta
Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of... OMIM:252500
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Intervertebral space narrowing, Narrow vertebral interpedicular distance, Short neck, Short metac... OMIM:143095
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Premature osteoarthritis, In... ORPHA:93314
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Limitation of joint mobility, Premature osteoarthritis, Micrognat... ORPHA:93307
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Absence of the sacrum, Shor... ORPHA:79106
X-Linked Dominant Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Epiphyseal stippling, Kyphoscoliosis, Anterior rib punctate calci... ORPHA:35173
Kbg Syndrome
Short neck, Vertebral fusion, Vertebral arch anomaly, Short palm, Thoracic kyphosis OMIM:148050
Hajdu-Cheney Syndrome
Short distal phalanx of finger, Osteopenia, Coarse metaphyseal trabecularization, Short toe, Hypo... ORPHA:955
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial i... OMIM:607326
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti... ORPHA:93346
Bruck Syndrome
Platyspondyly, Joint stiffness, Recurrent fractures, Osteoporosis, Scoliosis, Arthrogryposis mult... ORPHA:2771
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Platyspondyly, Aplasia/hypoplasia involving bones of the extremities, Delayed pubic bone ossifica... ORPHA:1856
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scoliosis, Recurre... OMIM:615220
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Joint contracture of the hand, Scoliosis, Limitation of joint mobility, Vertebral ... ORPHA:1159
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Scoliosis, Lumbar hyperlordosis, Distal ulnar epiphyseal stippling, Beaking of ver... OMIM:609616
Atelosteogenesis Type Iii
Thoracolumbar kyphosis, Absent humerus, Short tibia, Fibular aplasia, Micrognathia, Epiphyseal st... ORPHA:56305
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Atlantoaxial instability, Kyphoscoliosis, Short neck, Generalized osteoporosis, Sm... OMIM:184095
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Micrognathia, Arthrogryposis multiplex congenita, Neonatal death OMIM:253310
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Campto... OMIM:113000
Geroderma Osteodysplastica
Platyspondyly, Abnormal form of the vertebral bodies, Biconcave vertebral bodies, Joint hypermobi... ORPHA:2078
Atelosteogenesis Type Ii
Rhizomelia, Cervical kyphosis, Hypoplastic cervical vertebrae, Micromelia, Upper limb undergrowth... ORPHA:56304
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Micrognathia, Death in childhood, Hip contracture, Short neck, S... OMIM:210710
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Osteopenia, Osteoporosis, Scoliosis, Recurrent fractures OMIM:126550
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Asymmetry of spinal facet joints, Absence of the sacrum, Sacral dimple OMIM:182940
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Rhizomelia, Short 5th metacarpal, Short 4th metacarpal, Thin bony cortex, Thoracic... OMIM:619638
Progressive Pseudorheumatoid Dysplasia
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla... OMIM:208230
Microphthalmia, Syndromic 3
Butterfly vertebrae, Missing ribs, Hemivertebrae, Vertebral fusion, Vertebral hypoplasia OMIM:206900
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Hypoplasia of the odontoid process, Delayed pubic bone ossification, C1-C2 subluxa... OMIM:184250
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Rhizomelia, Short humerus, Short metatarsal, Short metacarpal OMIM:601438
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Short distal phalanx of finger, Hypoplasia of the odonto... OMIM:177170
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Limited hip movement... OMIM:183900
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Camptodactyly of finger, Cervical vertebral dysplasia, Short humerus, Kyphoscoliosis,... ORPHA:3455
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Aplasia/hypoplasia involving bones of the extremities, Kyphosis, Upper limb underg... ORPHA:94068
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Neonatal death OMIM:615709
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Joint hypermobility, Lumbar kyphosis, Short ne... OMIM:253000
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Elbow flexion contracture, Kyphoscoliosis, Car... OMIM:184252
Bruck Syndrome 2
Platyspondyly, Osteopenia, Elbow flexion contracture, Increased susceptibility to fractures, Knee... OMIM:609220
Larsen Syndrome
Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Tracheomalacia, Joint hypermobi... OMIM:150250
Spondyloperipheral Dysplasia
Short neck, Short foot, Short distal phalanx of the 5th finger, Short metacarpal, Ovoid vertebral... OMIM:271700
Anauxetic Dysplasia 1
Platyspondyly, Atlantoaxial dislocation, Rhizomelia, Short toe, Short finger, Delayed ossificatio... OMIM:607095
Kniest Dysplasia
Platyspondyly, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Vertebral wed... ORPHA:485
Diamond-Blackfan Anemia 1
Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Absent thumb, Short thumb, 11 pairs of... OMIM:105650
Czech Dysplasia
Platyspondyly, Limitation of joint mobility, Short toe, Flexion contracture, Intervertebral space... OMIM:609162
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Mesomelia, Limb undergrowth, Shortening of all metacarpals, Wide anterior fontanel OMIM:601356
Geroderma Osteodysplasticum
Platyspondyly, Osteopenia, Hyperextensibility of the finger joints, Increased susceptibility to f... OMIM:231070
Brachyolmia Type 3
Platyspondyly, Short femoral neck, Short neck, Scoliosis, Kyphosis OMIM:113500
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Decreased calvarial ossification, Joint... OMIM:616229
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Contractur... OMIM:114290
White-Sutton Syndrome
Short neck, Micrognathia, Hypoplastic cervical vertebrae, Joint hypermobility OMIM:616364
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Osteopenia, Kyphosis, Recurrent fractures, Decreased skull ossification, Decreased... OMIM:610915
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hypoplastic coccygeal vertebrae, Micrognathia, Arthrogryposis multiplex congenita OMIM:619512
Femoral-Facial Syndrome
Short fifth metatarsal, Absent vertebra, Dysplastic sacrum, Camptodactyly of finger, 11 pairs of ... OMIM:134780
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Joint stiffness, Joint hypermobility, Hyperlor... OMIM:253010
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Platyspondyly, Shortening of all middle phalanges of the fingers, Hypoplasia of the odontoid proc... OMIM:226980
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Contracture of the distal interphalangeal joint of the fingers, Microgn... ORPHA:83617
Osteogenesis Imperfecta, Type X
Platyspondyly, Osteopenia, Rhizomelia, Micromelia, Micrognathia, Death in childhood, Thoracic sco... OMIM:613848
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Kyphosis, Limitation of ... OMIM:223800
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Severe limb shortening, Hypoplastic sacrum, Mi... OMIM:200600
Alagille Syndrome 1
Short distal phalanx of finger, Butterfly vertebral arch, Hypoplasia of the ulna, Hemivertebrae OMIM:118450
Smith-Mccort Dysplasia 2
Platyspondyly, Hypoplasia of the odontoid process, Limited elbow extension, Short neck, Hyperlord... OMIM:615222
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Hypoplasia of the odontoid process, Short finger, Kyphoscoliosis, Short neck, Flex... OMIM:300232
Dyggve-Melchior-Clausen Disease
Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Atlantoaxial instability, Abnormal... ORPHA:239
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Kyphoscoliosis, Joint hypermobility, Osteoporosis, Vertebral compression fracture,... OMIM:616507
Iniencephaly
Rhizomelia, Absent vertebra, Hyperlordosis, Mandibular aplasia, Arthrogryposis multiplex congenita ORPHA:63259
Saul-Wilson Syndrome
Platyspondyly, Short distal phalanx of finger, Hypoplasia of the odontoid process, Micrognathia, ... OMIM:618150
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Osteopenia, Short 1st metacarpal, Short tibia, Butterfly vertebrae, Short ribs, De... OMIM:620076
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Osteopenia, Hypoplasia of the odontoid process, Cervical spinal ... OMIM:616007
Multiple Synostoses Syndrome 1
Carpal synostosis, Tarsal synostosis, Hypoplastic spinal processes, Proximal/middle symphalangism... OMIM:186500
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ... OMIM:259770
Aarskog-Scott Syndrome
Short 5th finger, Cervical spine hypermobility, Hypoplasia of the odontoid process, Joint hypermo... OMIM:305400
Hurler Syndrome
Hypoplasia of the odontoid process, Cranial hyperostosis, Joint stiffness, Biconcave vertebral bo... OMIM:607014
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Aplasia/hypoplasia involving bones of the extremities, Thoracolumbar kyphosis, Hypoplasia of the ... ORPHA:508533
Spondylocarpotarsal Synostosis Syndrome
Block vertebrae, Hypoplasia of the odontoid process, Carpal synostosis, Limited elbow extension, ... OMIM:272460
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... ORPHA:1183
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Currarino Syndrome
Aplasia/Hypoplasia of the sacrum, Sacrococcygeal teratoma ORPHA:1552
Codas Syndrome
Hypoplasia of the odontoid process, Short humerus, Generalized joint hypermobility, Lumbar scolio... OMIM:600373
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Platyspondyly, Wide anterior fontanel, Hypoplasia of the odontoid process, Atlantoaxial instabili... OMIM:271665
Mucopolysaccharidosis, Type Vi
Hypoplasia of the odontoid process, Anterior wedging of L1, Lumbar hyperlordosis, Joint stiffness... OMIM:253200
Marshall-Smith Syndrome
Atlantoaxial dislocation, Short distal phalanx of finger, Microretrognathia, Hypoplasia of the od... OMIM:602535
Craniofacial Microsomia 1
Block vertebrae, Micrognathia, Hemivertebrae, Scoliosis, Vertebral hypoplasia OMIM:164210
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Delayed ossification of carpal bones... OMIM:300106
Phocomelia, Schinzel Type
Finger aplasia, Micromelia, Aplasia/Hypoplasia of the sacrum, Foot oligodactyly, Fibular aplasia,... ORPHA:2879
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestinal polyposis, Nephrob... ORPHA:1052
Mosaic Variegated Aneuploidy Syndrome 2
Craniosynostosis, Rhizomelia, Micrognathia 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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