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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
Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphoblastic leukemia, Neoplasm, Nephr... ORPHA:1052
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Craniosynostosis, 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
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes... OMIM:601344
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Holoprosencephaly, Semilobar, With Craniosynostosis
Hypoplastic vertebral bodies, Coronal craniosynostosis, Lambdoidal craniosynostosis, Short distal... OMIM:601370
Odontoid Hypoplasia
Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o... OMIM:613628
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... ORPHA:1782
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Plat... OMIM:602557
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies OMIM:601187
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Hyperconvex vertebral body endplates,... OMIM:184255
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the extremities, Sho... OMIM:146000
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... OMIM:601216
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Micrognathia, Increased intervertebral sp... OMIM:224300
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Short neck, Hyperlordosis, Delayed epiphyseal ossification, Premature osteoarthriti... ORPHA:93352
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Joint stiffness, Ab... ORPHA:2635
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Short neck, Irregular vertebral endplates, Platyspondyly, D... OMIM:618395
Richieri Costa-Da Silva Syndrome
Kyphoscoliosis, Short neck, Limitation of joint mobility, Vertebral wedging, Decreased anteriopos... ORPHA:3101
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoliosis, Thorac... OMIM:230600
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... OMIM:215140
Infantile Liver Failure Syndrome 3
Hypoplastic vertebral bodies, Beaking of vertebral bodies, Platyspondyly, Death in childhood OMIM:618641
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Short neck, Advanced ossification of carpal bones, ... OMIM:269250
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... ORPHA:40
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... ORPHA:2916
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Gm1-Gangliosidosis, Type I
Death in infancy, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis,... OMIM:230500
Caudal Regression Syndrome
Joint stiffness, Missing ribs, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Hypoplastic vert... ORPHA:3027
Osteoarthritis With Mild Chondrodysplasia
Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... OMIM:604864
Lethal Kniest-Like Dysplasia
Short neck, Mesomelic/rhizomelic limb shortening, Wide anterior fontanel, Hypoplastic vertebral b... ORPHA:2347
Brachytelephalangic Chondrodysplasia Punctata
Butterfly vertebrae, Short distal phalanx of finger, Calcaneal epiphyseal stippling, Cervical kyp... ORPHA:79345
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Micrognathia, Wide anterior fontanel, Vertebral arch ... ORPHA:85184
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Cryptorchidism, Neonatal epiphyseal stippling, Short metatarsal, Spinal canal s... OMIM:101800
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Irregular vertebral endplates, Platyspondyly, Thor... OMIM:609223
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Short femoral neck, Scoli... OMIM:271530
Holoprosencephaly-Craniosynostosis Syndrome
Hypoplastic vertebral bodies, Craniosynostosis, Short distal phalanx of finger ORPHA:2163
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebr... OMIM:616583
Opsismodysplasia
Hypoplastic vertebral bodies, Abnormally ossified vertebrae, Joint stiffness ORPHA:2746
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Short lower limbs, Ovoid verte... ORPHA:93315
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ri... ORPHA:168549
Opsismodysplasia
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Hypoplastic vertebr... OMIM:258480
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Atelosteogenesis, Type I
11 pairs of ribs, Short humerus, Short metacarpal, Short femur, Rhizomelia, Short neck, Thoracic ... OMIM:108720
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Micromelia, Joint stiffness, Micrognathi... ORPHA:628
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... ORPHA:2790
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Scoliosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3319
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Micrognathia, Short neck, Cryptorchidism, Short distal phalanx of the 5th finge... OMIM:620073
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Joint laxity, Delayed phalangeal epiphyseal ossification, Delayed patellar ossification, Irregula... OMIM:603546
Achondroplasia
Death in infancy, Lumbar hyperlordosis, Limited hip extension, Rhizomelia, Short femur, Generaliz... OMIM:100800
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Short neck, Micrognathia, Cryptorchidism, Kyphosis, Prenatal death, Camptodacty... OMIM:618393
Schneckenbecken Dysplasia
Hypoplastic scapulae, Micromelia, Short neck, Cryptorchidism, Abnormal form of the vertebral bodi... ORPHA:3144
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal vertebral morphology, Restricted large joint movement ORPHA:163665
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Acromesomelic Dysplasia 1
Joint laxity, Short metacarpal, Lumbar hyperlordosis, Ovoid vertebral bodies, Short toe, Hypoplas... OMIM:602875
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Short femoral neck, Advanced ossification of carpal bones, Vertebral wedging OMIM:617719
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abn... ORPHA:666
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... OMIM:271630
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Advanced ossification of carpal bones, Lumbar scoliosis, Scoliosis, Hypoplastic cer... 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
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Pilonidal sinus, Short neck, Joint stiffness, Achilles tendon contracture, El... OMIM:252940
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, D... OMIM:271510
Fibrochondrogenesis 1
Short palm, Hypoplastic scapulae, Rhizomelia, Short neck, Wide anterior fontanel, Small hand, Fib... OMIM:228520
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Delayed ossification of carpal bones, Reduced bone mineral density OMIM:617974
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Myhre Syndrome
Vertebral fusion, Joint stiffness, Short neck, Cryptorchidism, Short toe, Limitation of joint mob... OMIM:139210
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Pde4D Haploinsufficiency Syndrome
Joint laxity, Short metacarpal, Micrognathia, Cryptorchidism, Short toe, Short metatarsal, Upper ... ORPHA:439822
Gm1 Gangliosidosis Type 1
Hypoplastic vertebral bodies, Platyspondyly, Beaking of vertebral bodies T12-L3 ORPHA:79255
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Vertebral wedging, Plat... OMIM:610967
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Platyspondyly, ... ORPHA:85172
Pyle Disease
Hypoplastic frontal sinuses, Reduced bone mineral density, Platyspondyly, Absent paranasal sinuse... OMIM:265900
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Abnormal form of the vertebral bodies, Vert... ORPHA:52
Multiple Sulfatase Deficiency
Hypoplastic vertebral bodies OMIM:272200
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Micromelia, Short palm ORPHA:168555
Kuskokwim Syndrome
Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form of the vertebral bodies, Aplasi... ORPHA:1149
Atelosteogenesis, Type Ii
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Micromelia, Short neck, Increased inte... OMIM:256050
Brachyolmia Type 2
Platyspondyly OMIM:613678
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Micrognathia, Rhizomelic leg shortening, Twelfth rib hypoplasia,... ORPHA:397715
Bruck Syndrome 1
Joint laxity, Hip contracture, Ankle flexion contracture, Kyphosis, Osteoporosis, Elbow flexion c... OMIM:259450
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Short toe, Limitation of joint mobility, Knee osteoarthritis, Platyspondyly, Hip oste... ORPHA:2619
Cartilage-Hair Hypoplasia
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Scoliosis, Short palm, Na... OMIM:250250
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Hypoplastic scapulae, Micrognathia, Absent middl... OMIM:308050
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Arthritis, ... OMIM:184100
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short middle phalanx of the 2nd finger, Multiple small vertebral fractures, Platyspondyly, Short ... OMIM:156510
Morquio Syndrome C
Platyspondyly OMIM:252300
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Rhizomelia, Short neck, Micrognathia, Hypoplasia of the odontoid process, P... OMIM:264180
Dysspondyloenchondromatosis
Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Vertebral segmentation defect, Platyspo... ORPHA:85198
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Abnormal enchondral ossification, Hypoplasia of the odont... OMIM:156530
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Platyspondyly, Micromelia ORPHA:93283
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Limitation of joint mobil... OMIM:619598
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Lower limb underg... OMIM:612847
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... OMIM:259440
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthriti... OMIM:271650
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis, Platyspondyly OMIM:271600
Pseudodiastrophic Dysplasia
Platyspondyly, Rhizomelia, Scoliosis ORPHA:85174
Hypochondroplasia
Micromelia, Hyperlordosis, Osteoarthritis, Short toe, Spinal canal stenosis, Abnormal form of the... ORPHA:429
Osteogenesis Imperfecta, Type Vi
Joint laxity, Vertebral compression fracture, Increased susceptibility to fractures, Biconcave ve... OMIM:613982
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Short neck, Flexion contracture, Irregular vertebral endplates, Hypoplasia... OMIM:143095
Mucolipidosis Ii Alpha/Beta
Osteopenia, Hypoplastic scapulae, Thoracolumbar kyphoscoliosis, Craniosynostosis, Ovoid vertebral... OMIM:252500
Kbg Syndrome
Vertebral fusion, Short neck, Cryptorchidism, Vertebral arch anomaly, Thoracic kyphosis, Short palm OMIM:148050
Spondylometaphyseal Dysplasia, Kozlowski Type
Increased intervertebral space, Delayed epiphyseal ossification, Short metatarsal, Thoracic kypho... ORPHA:93314
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Flexion contracture, Short metatarsal, Hypoplastic cervical vert... ORPHA:93307
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Delayed epiphyseal ossifi... ORPHA:79106
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Flexion contractur... ORPHA:35173
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Short metacarpal, Hypoplastic scapulae, Short neck, Hypop... OMIM:607326
Hajdu-Cheney Syndrome
Osteopenia, Recurrent fractures, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Absent f... ORPHA:955
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Arthrogry... ORPHA:2771
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Ovoid vertebral bodies, Abnormality of the vertebral endplates, Short met... ORPHA:1856
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h... OMIM:615220
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Platyspondyly, Dela... ORPHA:93346
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Cryptorchidism, Hemivertebrae, Butterfly vertebrae, Vertebral hyp... OMIM:206900
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Knee ... OMIM:210710
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Mesomelic arm shortening, Short foot, Irregular vertebral endplates, Platys... OMIM:609616
Atelosteogenesis Type Iii
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Micrognathia, A... ORPHA:56305
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl... OMIM:313400
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Aplasia/Hypoplasia of the distal p... OMIM:113000
Geroderma Osteodysplastica
Beaking of vertebral bodies, Recurrent fractures, Osteoporosis, Abnormal form of the vertebral bo... ORPHA:2078
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis OMIM:126550
Lethal Congenital Contracture Syndrome 1
Neonatal death, Arthrogryposis multiplex congenita, Widening of cervical spinal canal, Micrognathia OMIM:253310
Atelosteogenesis Type Ii
Short metacarpal, Short femur, Rhizomelia, Cervical kyphosis, Thoracolumbar kyphoscoliosis, Short... ORPHA:56304
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Rhizomelia, Platyspondyly, Thoracic kyphosis, Short 4th metacarpal, Short 5th m... OMIM:619638
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Limitation of join... ORPHA:1159
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Kyphoscoliosis, Joint stiffness, Osteoarthritis, Osteoporosis, Platyspon... OMIM:208230
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Spina bifida occulta, Asymmetry of spinal facet joints OMIM:182940
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Platyspondyly OMIM:601438
Osteoglosphonic Dysplasia
Rhizomelia, Craniosynostosis, Micrognathia, Cryptorchidism, Abnormal form of the vertebral bodies... ORPHA:2645
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, Delayed pubic bone o... OMIM:184250
Pseudoachondroplasia
Joint laxity, Short metacarpal, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the od... OMIM:177170
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Short humerus, Short femur, Camptodactyly of finger, Irregular sclerotic endplates, K... ORPHA:3455
Larsen Syndrome
Joint laxity, Vertebral fusion, Short metacarpal, Cervical kyphosis, Cryptorchidism, Short metata... OMIM:150250
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... OMIM:183900
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short femur, Limited elbow moveme... ORPHA:94068
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion contracture, Platys... OMIM:184252
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... OMIM:609220
Anauxetic Dysplasia 1
Joint laxity, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Short toe, Elbow fle... OMIM:607095
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... OMIM:231070
Mucopolysaccharidosis, Type Iva
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... OMIM:253000
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Short fifth metatarsal, Limited e... OMIM:134780
Diamond-Blackfan Anemia 1
11 pairs of ribs, Short neck, Micrognathia, Short thumb, Absent thumb, Hypoplasia of the radius, ... OMIM:105650
Czech Dysplasia
Short metacarpal, Short toe, Flexion contracture, Limitation of joint mobility, Short metatarsal,... OMIM:609162
Kniest Dysplasia
Joint stiffness, Short neck, Hypoplasia of the odontoid process, Delayed epiphyseal ossification,... ORPHA:485
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Platyspondyly, Mesomelia, Limb undergrowth OMIM:601356
Brachyolmia Type 3
Short neck, Kyphosis, Platyspondyly, Short femoral neck, Scoliosis OMIM:113500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micrognathia, Cryptorchidism, Contracture of the distal interphalangeal joint of the fingers, Cle... ORPHA:83617
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Cryptorchidism, Hypoplastic coccygeal vertebrae, Arthrogryposis multiplex congenita, Micrognathia OMIM:619512
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Microretrognathia, Rhizomelia, Recurrent fractures, Decreased calvarial ossification,... OMIM:616229
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Recurrent fractures, Multiple prenatal fractures, Wid... OMIM:610915
White-Sutton Syndrome
Joint laxity, Micrognathia, Hypoplastic cervical vertebrae, Short neck OMIM:616364
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Micrognathia, Delayed epiphyseal ossification, Patellar hy... OMIM:114290
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Shortening of all middle phalanges of the fingers, Hyperlordosis, Hypoplasia of the odontoid proc... OMIM:226980
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Short metacarpal, Lumbar hyperlordosis, Hypoplastic scapulae, Short ... OMIM:223800
Alagille Syndrome 1
Hypoplasia of the ulna, Hemivertebrae, Butterfly vertebral arch, Short distal phalanx of finger OMIM:118450
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplastic scapulae, Micromelia, Short neck, Abnormal hand bone ossification... OMIM:200600
Smith-Mccort Dysplasia 2
Short metacarpal, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Short metatarsal... OMIM:615222
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Thoracic scoliosis, Short femur, Rhizomelia, Micromelia, Micrognathia, ... OMIM:613848
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Hypoplasia of the odontoid ... OMIM:253010
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone mineral density, Pl... OMIM:616507
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Cryp... OMIM:305400
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Flexion contracture, Platyspondyl... OMIM:300232
Iniencephaly
Rhizomelia, Hyperlordosis, Absent vertebra, Mandibular aplasia, Arthrogryposis multiplex congenita ORPHA:63259
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Short tibia, Coronal cleft vertebrae, Decreased calvarial ossification, P... OMIM:620076
Saul-Wilson Syndrome
Short metacarpal, Micrognathia, Wide anterior fontanel, Hypoplasia of the odontoid process, Short... OMIM:618150
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Hyperlordosis, Micrognathia, Hypoplasia of the odontoid process, Delayed epiphyseal o... OMIM:616007
Dyggve-Melchior-Clausen Disease
Rhizomelia, Short neck, Hypoplasia of the odontoid process, Abnormality of the vertebral endplate... ORPHA:239
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Hypoplasia of the ulna, Short humerus, Proximal/middle symphalangis... OMIM:186500
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility... OMIM:259770
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Joint stiffness, Hypoplasia of the odon... OMIM:253220
Hurler Syndrome
Hypoplasia of the femoral head, Short neck, Joint stiffness, Hypoplasia of the odontoid process, ... OMIM:607014
Fanconi Anemia, Complementation Group C
Absent thumb, Absent radius, Cryptorchidism, Short thumb, Flexion contracture, Prolonged G2 phase... OMIM:227645
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Short metacarpal, Craniosynostosis, Limited elbow movement, ... ORPHA:508533
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Short metacarpal, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis... OMIM:272460
Codas Syndrome
Short humerus, Short metacarpal, Cryptorchidism, Generalized joint laxity, Hypoplasia of the odon... OMIM:600373
Currarino Syndrome
Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum ORPHA:1552
Marshall-Smith Syndrome
Microretrognathia, Thoracic scoliosis, Decreased hip abduction, Large sternal ossification center... OMIM:602535
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Micromelia, Short neck, Micrognathia, Wide anterior fontanel, Hypoplasia of the... OMIM:271665
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffness, Anterior wedging o... OMIM:253200
Craniofacial Microsomia 1
Block vertebrae, Micrognathia, Hemivertebrae, Scoliosis, Vertebral hypoplasia OMIM:164210
Phocomelia, Schinzel Type
Micromelia, Short neck, Micrognathia, Cryptorchidism, Aplasia of the ulna, Humeroradial synostosi... ORPHA:2879
Spondyloepimetaphyseal Dysplasia, X-Linked
Joint laxity, Short metacarpal, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosi... OMIM:300106
Fanconi Anemia, Complementation Group E
Absent thumb, Absent radius, Cryptorchidism, Short thumb, Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Absent thumb, Absent radius, Cryptorchidism, Short thumb, Prolonged G2 phase of cell cycle OMIM:227650
Fanconi Anemia, Complementation Group D2
Absent thumb, Absent radius, Cryptorchidism, Short thumb, Prolonged G2 phase of cell cycle, Aplas... OMIM:227646
Mosaic Variegated Aneuploidy Syndrome
Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphoblastic leukemia, Neoplasm, Nephr... ORPHA:1052
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Craniosynostosis, 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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