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Gene: Msgn1 MGI:1860483

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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:
mesogenin 1
Synonyms:
Msgn

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 Msgn1 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 Msgn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... ORPHA:2345
Wildervanck Syndrome
Pseudopapilledema, Short neck, Meningocele, Facial palsy, Fused cervical vertebrae ORPHA:3456
Iniencephaly
Rhizomelia, Spinal dysraphism, Arthrogryposis multiplex congenita, Absent vertebra, Myelomeningoc... ORPHA:63259
Femoral-Facial Syndrome
Micrognathia, Encephalocele, Humeroradial synostosis, Limited elbow movement, Radioulnar synostos... OMIM:134780
Diaphanospondylodysostosis
Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnorm... ORPHA:66637
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Osteopenia, Narrow chest, Posterior wedging of vertebral bodies, Optic atrophy, Th... ORPHA:168549
Spondylometaphyseal Dysplasia, Corner Fracture Type
Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Hyperconvex vertebral b... OMIM:184255
Odontoid Hypoplasia
Hypoplasia of the odontoid process, Cervical instability, Atlantoaxial instability, Dystopic os o... OMIM:613628
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Fusion of midcervical facet joints, Limb muscle weakness, Widening of cervical s... OMIM:606842
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae OMIM:214300
Atelosteogenesis, Type I
Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Micrognathia, Encephalocele, Neonatal dea... OMIM:108720
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal enc... ORPHA:2635
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Micrognathia, Short neck, Hyperlordosis, Abnormal rib morphology, P... ORPHA:2522
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Abnormal sacrum morphology, Scoliosis, Short middle phalanx of finger, Fu... ORPHA:1436
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Flexion contractu... OMIM:618469
Christian Syndrome
Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused... OMIM:309620
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shaped thorax, Vert... OMIM:613686
Kniest Dysplasia
Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Vertebral wed... ORPHA:485
Arnold-Chiari Malformation Type I
Myelopathy, Cranial nerve compression, Stiff neck, Abnormality of the vestibulocochlear nerve, Ce... ORPHA:268882
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Platyspondyly, Micromelia, Short femoral neck, Central vertebral... OMIM:602557
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Micrognathia, Acetabular dysplasia, Myopathy, Cervical C2/C3 vertebral fusion, S... OMIM:616549
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Micrognathia, Dysplastic patella, Congenital diaphragmatic hernia, Patella... OMIM:265000
Frontometaphyseal Dysplasia 1
Hypoplasia of the musculature, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited... OMIM:305620
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Umbilical hernia, Knee dislocation, Micrognathia, Thoracic scoliosis, Generalized joi... OMIM:618000
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, A... OMIM:118100
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Stippling of the epiph... ORPHA:79345
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Rib fusion,... OMIM:277300
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai... OMIM:122600
Lamb-Shaffer Syndrome
Optic atrophy, Thoracic kyphosis, Micrognathia, Scoliosis, Fused cervical vertebrae ORPHA:530983
Diastrophic Dysplasia
Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Lumbar hyperlordosis, Genu valgu... OMIM:222600
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Short to... ORPHA:370010
Sprengel Deformity
Neck muscle hypoplasia, Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bi... OMIM:184400
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Metatropic Dysplasia
Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat acetabular roof, Delayed ... OMIM:156530
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b... OMIM:182940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Kyphosis, Shoulder g... OMIM:606612
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal clavicle morphology, Elbow dislocation, Camptodactyly of... ORPHA:628
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Short neck, Anterior ... OMIM:228520
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Sprengel anomaly, Spina bifida occulta, Pectus excavatum, Fused cervical ver... OMIM:619227
Richieri Costa-Da Silva Syndrome
Pectus carinatum, Vertebral wedging, Decreased muscle mass, Decreased anterioposterior diameter o... ORPHA:3101
Frontometaphyseal Dysplasia
Hypoplasia of the musculature, Joint contracture of the hand, Short distal phalanx of the thumb, ... ORPHA:1826
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... ORPHA:93315
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Abnormal sacrum morphology, Intrauterine growth retardation, Vertebral segmentation... ORPHA:1797
Fibrodysplasia Ossificans Progressiva
Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification in ligament tissue, P... OMIM:135100
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Thoracic hypoplasi... ORPHA:93352
Greenberg Dysplasia
Fractured rib, Supernumerary vertebral ossification centers, Large placenta, Micrognathia, Barrel... OMIM:215140
Duane-Radial Ray Syndrome
Absent thumb, Short thumb, Absent radius, Pectoralis hypoplasia, Short humerus, Aganglionic megac... OMIM:607323
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Camptodactyly, Intrauterine growth retardation, Cervical C2/C3 vertebral fusion, Joint hypermobility OMIM:617333
Thrombocytopenia-Absent Radius Syndrome
Cervical ribs, Absent radius, Fibular aplasia, Micrognathia, Aplasia/hypoplasia of the humerus, A... ORPHA:3320
Spinal Dysplasia, Anhalt Type
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... OMIM:601344
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short 5th finger, Hypermobility of interphalangeal joints, Optic nerve hypoplasia, Microretrognat... ORPHA:508498
Verheij Syndrome
Short 5th finger, Branchial cyst, Intrauterine growth retardation, Joint hypermobility, Short nec... OMIM:615583
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Shashi-Pena Syndrome
Kyphosis, Intrauterine growth retardation, Cervical C2/C3 vertebral fusion, Short metacarpal, Lim... OMIM:617190
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Short thorax, Vertebral fusion, Patent ductus arteriosus, Sacral d... OMIM:618845
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Short... OMIM:151200
Dysosteosclerosis
Platyspondyly, Osteopenia, Narrow chest, Optic atrophy, Facial paralysis, Absent paranasal sinuse... OMIM:224300
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Pectus carinatum, Platyspondyly, Hypoplasia of the odontoid process, Ulnar d... OMIM:253000
Fanconi Anemia, Complementation Group I
Absent thumb, Short 1st metacarpal, Short thumb, Intrauterine growth retardation, Short neck, Fus... OMIM:609053
Spondyloepiphyseal Dysplasia Tarda
Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Barre... ORPHA:93284
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Broad ribs, Osteomyelitis, Joint swelling, Flaring of rib cage, Osteolysis, Fused cer... OMIM:612852
Intellectual Developmental Disorder, Autosomal Dominant 52
Pectus carinatum, Lumbar hyperlordosis, Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Scapul... OMIM:617796
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordosis... OMIM:271650
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Pectus carinatum, Platyspondyly, Hypoplasia of the odontoid process, Kyphosi... OMIM:183900
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Hypoplastic scapulae, Umbilical hernia, Aplasia of the distal phalanx... OMIM:308050
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Carpal synostosis, Fibular aplasia, Micrognathia, Patellar aplasia, Carpal bone hy... OMIM:274000
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Short finger, Amyoplasia, Intrauterine growth retardation, Microgna... OMIM:312150
Holoprosencephaly, Semilobar, With Craniosynostosis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Short distal phalanx of finger, Semilobar ... OMIM:601370
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascu... OMIM:184100
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Proximal/middle symphalangism of 5th finger, Fused cervical verte... OMIM:184460
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Pectus carinatum, Popliteal pterygium, Cervical spinal canal stenosis, Elbow contracture, Elbow f... OMIM:178110
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Short finger, Amyoplasia, Intrauterine growth retardation, Microgna... OMIM:253290
Mosaic Trisomy 20
Narrow chest, Spinal canal stenosis, Intrauterine growth retardation, Micrognathia, Vertebral seg... ORPHA:1724
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... OMIM:113000
Developmental And Speech Delay Due To Sox5 Deficiency
Pectus carinatum, Optic atrophy, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Tho... ORPHA:313892
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Abnormal rib morphology, Umbilical hernia, Camptodactyly o... ORPHA:2311
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... ORPHA:2790
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Knee dislocation, Joint hypermobility, Lumbar ... OMIM:620269
Aarskog-Scott Syndrome
Genu recurvatum, Small hand, Camptodactyly of finger, Umbilical hernia, Joint hypermobility, Abno... ORPHA:915
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Elbow dislocation, Congenital muscular torticollis, Hypopl... ORPHA:2916
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Wormian bones, Flat acetabular roof, Short femoral neck, Patent ductus arteriosu... OMIM:617159
Lateral Meningocele Syndrome
Kyphosis, Decreased muscle mass, Umbilical hernia, Sclerosis of skull base, Micrognathia, Biconca... OMIM:130720
Ring Chromosome 21 Syndrome
Small hand, Thoracic hemivertebrae, Abnormal thorax morphology, Fused thoracic vertebrae, Holopro... ORPHA:1445
Thakker-Donnai Syndrome
Intrauterine growth retardation, Congenital diaphragmatic hernia, Cervical C2/C3 vertebral fusion... ORPHA:1780
Pseudodiastrophic Dysplasia
Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, Tongue-like lum... OMIM:264180
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... OMIM:610017
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, Joint stiffness, Missing ribs, Hypoplast... ORPHA:3027
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Shoulder girdle muscle weakness, Calf muscle hypertrophy, Thigh hypertrophy, ... OMIM:607155
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Premature osteoarthritis, In... ORPHA:93314
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Irregularity of vertebral bodies, ... ORPHA:85172
Gm1-Gangliosidosis, Type Ii
Thoracolumbar kyphosis, Platyspondyly, Optic atrophy, Joint stiffness, Hypoplastic vertebral bodi... OMIM:230600
Dysosteosclerosis
Platyspondyly, Optic atrophy, Abnormal cranial nerve morphology, Hypoplastic vertebral bodies, In... ORPHA:1782
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplastic acetabulae, Delayed s... OMIM:601187
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morphology, Down-sloping s... OMIM:109400
Poland Syndrome
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... OMIM:173800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Thoracic hypoplasia, Small cervical vertebral bodies, Cervical spinal ca... ORPHA:397715
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Optic nerve aplasia, Butterfly vertebrae, Missing ribs, Supernumerary rib... OMIM:206900
Lethal Kniest-Like Dysplasia
Platyspondyly, Narrow chest, Mesomelic/rhizomelic limb shortening, Short ribs, Hypoplastic verteb... ORPHA:2347
Gm1-Gangliosidosis, Type I
Joint stiffness, Intrauterine growth retardation, Hypoplastic vertebral bodies, Short neck, Beaki... OMIM:230500
Larsen Syndrome
Pectus carinatum, Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow disloca... OMIM:150250
Opsismodysplasia
Narrow chest, Hypoplasia of the odontoid process, Rhizomelia, Posterior rib cupping, Bell-shaped ... OMIM:258480
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal rib cage morphology, Pectus carinatum, Platyspondyly, Hypoplasia of the odontoid process... OMIM:184252
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Platyspondyly, Hypoplasia of the odontoid process, Ulnar deviation of the wr... OMIM:253010
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobi... OMIM:607326
Kbg Syndrome
Persistent open anterior fontanelle, Cervical ribs, Delayed skeletal maturation, Short neck, Vert... ORPHA:2332
Becker Nevus Syndrome
Pectus carinatum, Shoulder girdle muscle atrophy, Micromelia, Rib fusion, Supernumerary ribs, Spi... ORPHA:64755
Otopalatodigital Syndrome Type 2
Narrow chest, Synostosis of carpal bones, Elbow dislocation, Short thumb, Camptodactyly of finger... ORPHA:90652
Hajdu-Cheney Syndrome
Micrognathia, Decreased skull ossification, Absent frontal sinuses, Short neck, Patellar dislocat... ORPHA:955
Apert Syndrome
Optic atrophy, Micromelia, Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect, Aplasi... ORPHA:87
Phaver Syndrome
Abnormal form of the vertebral bodies, Short thumb, Camptodactyly of finger, Myelomeningocele, Pt... ORPHA:2876
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ge... OMIM:177170
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Limitation of joint mobility, Premature osteoarthritis, Dislocati... ORPHA:93307
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Bell-shaped thorax, Genu valgum, Micrognathia,... ORPHA:56304
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... ORPHA:90650
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:223800
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Decreased muscle mass, Elbow contracture, Hip contracture, Short meta... OMIM:617137
Apert Syndrome
Delayed epiphyseal ossification, Pectus carinatum, Lambdoidal craniosynostosis, Coronal craniosyn... OMIM:101200
Dyggve-Melchior-Clausen Disease
Platyspondyly, Pectus carinatum, Rhizomelia, Hypoplasia of the odontoid process, Hypoplastic acet... ORPHA:239
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Spinal canal stenosis, Intrauterine growth retardation, Epiphyseal stippling, Narr... OMIM:101800
Diamond-Blackfan Anemia 1
Narrow chest, Hypoplastic coccygeal vertebrae, Bifid thoracic vertebrae, Absent thumb, Short thum... OMIM:105650
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Short neck, Anteri... OMIM:253220
Opsismodysplasia
Narrow chest, Delayed skeletal maturation, Joint stiffness, Hypoplastic vertebral bodies, Pectus ... ORPHA:2746
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Genu valgum, Delayed pubic b... OMIM:184250
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Abnormal rib morphology, Umbilical hernia, Microm... ORPHA:93298
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Microm... ORPHA:93351
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Platyspondyly, Hypoplasia of the odontoid process, Skeletal muscle atrophy, Delayed sk... OMIM:300232
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Delayed skeletal maturation, Hypoplastic vertebral bodies, Cranio... ORPHA:2163
Gm1 Gangliosidosis Type 1
Platyspondyly, Pectus carinatum, Beaking of vertebral bodies T12-L3, Intrauterine growth retardat... ORPHA:79255
Atelosteogenesis Type Iii
Thoracolumbar kyphosis, Absent humerus, Thoracic hypoplasia, Elbow dislocation, Knee dislocation,... ORPHA:56305
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
X-Linked Dominant Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Epiphyseal stippling, Kyphoscoliosis, Anterior rib punctate calci... ORPHA:35173
White Forelock With Malformations
Delayed skeletal maturation, Joint hypermobility, Sprengel anomaly, Abnormal rib morphology, Spin... ORPHA:2475
Chops Syndrome
Cervical C2/C3 vertebral fusion, Optic atrophy, Tracheomalacia, Patent ductus arteriosus OMIM:616368
Spondylocarpotarsal Synostosis Syndrome
Pectus carinatum, Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturatio... OMIM:272460
Achondrogenesis, Type Ia
Broad clavicles, Hypoplastic scapulae, Narrow chest, Unossified vertebral bodies, Stillbirth, Hyp... OMIM:200600
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Congenital diaphragmatic hernia, Vertebral segmentat... ORPHA:1120
Infantile Liver Failure Syndrome 3
Platyspondyly, Beaking of vertebral bodies, Abnormal acetabulum morphology, Hypoplastic vertebral... OMIM:618641
Mesomelic Dysplasia, Kantaputra Type
Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of finger, Vertebral segmenta... ORPHA:1836
Multiple Synostoses Syndrome 1
Carpal synostosis, Proximal/middle symphalangism of 5th toe, Lower limb undergrowth, Short hallux... OMIM:186500
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Pectus carinatum, Hypoplasia of the odontoid process, Hypoplastic acetabulae... OMIM:253200
Mucopolysaccharidosis, Type Iiid
Elbow flexion contracture, Joint stiffness, Thoracic scoliosis, Pilonidal sinus, Hypoplastic vert... OMIM:252940
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Rib fusion, Missing ribs, Short ... OMIM:271520
Cardiospondylocarpofacial Syndrome
Delayed skeletal maturation, Carpal synostosis, Fusion of middle ear ossicles, Congenital diaphra... OMIM:157800
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Rib fusion, Hydrocepha... ORPHA:377
Schneckenbecken Dysplasia
Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Micromelia, Short ribs... ORPHA:3144
Cooper-Jabs Syndrome
Camptodactyly of finger, Umbilical hernia, Reduced bone mineral density, Congenital diaphragmatic... ORPHA:1488
Chromosome 16P13.3 Duplication Syndrome
Short toe, Short thumb, Cervical C5/C6 vertebrae fusion, Micrognathia, Facial hypotonia, Short ne... OMIM:613458
Smith-Mccort Dysplasia 2
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Genu valgum, Enlarged interp... OMIM:615222
Robinow Syndrome, Autosomal Recessive 1
Small hand, Delayed cranial suture closure, Thoracic hemivertebrae, Micrognathia, Short neck, Tho... OMIM:268310
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Elbow dislocation, Micrognathia, Hypoplasia of deltoid muscl... OMIM:142900
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Coronal craniosynostosis, Contracture of the distal interphalangeal joint of the finge... ORPHA:83617
Aicardi Syndrome
Optic atrophy, Block vertebrae, Optic disc coloboma, Butterfly vertebrae, Missing ribs, Supernume... OMIM:304050
Eiken Syndrome
Delayed epiphyseal ossification, Absence of the sacrum, Short toe, Limited elbow flexion, Limited... ORPHA:79106
Mucolipidosis Ii Alpha/Beta
Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia of the odontoid process, Myelopathy, L... OMIM:252500
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Umbilical hernia, Micrognathia, Biconcave vertebral bodies, Joint hypermobility, Wormi... OMIM:617952
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Osteopenia, Congenital hip dislocation, Hypoplasia of the odonto... OMIM:616007
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Congenital hip dislocation, Optic atrophy, Hypoplastic coccygeal vertebrae, Micrognathia, Hydroce... OMIM:619512
White-Sutton Syndrome
Hypoplastic cervical vertebrae, Intrauterine growth retardation, Micrognathia, Congenital diaphra... OMIM:616364
Koolen-De Vries Syndrome
Kyphosis, Intrauterine growth retardation, Spondylolisthesis, Joint hypermobility, Patent ductus ... OMIM:610443
Sirenomelia
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia, Spina bifida ORPHA:3169
Sacral Defect With Anterior Meningocele
Absence of the sacrum, Myelomeningocele, Myeloschisis, Back pain, Hydrocephalus, Anterior sacral ... OMIM:600145
Holt-Oram Syndrome
Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Kyphosis, Absent thumb, Joint sti... ORPHA:392
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Small hand, Tracheomalacia, Hypoplasia of proximal radius, Microgn... ORPHA:444077
Multiple Sulfatase Deficiency
Hypoplastic vertebral bodies, Hydrocephalus OMIM:272200
Cole-Carpenter Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Micrognathia, J... ORPHA:2050
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Narrow chest, Micrognathia, Joint hypermobility, Rib fusion, Short neck, Sprengel anomaly, Beakin... OMIM:213980
Saul-Wilson Syndrome
Platyspondyly, Pectus carinatum, Short distal phalanx of finger, Hypoplasia of the odontoid proce... OMIM:618150
Cartilage-Hair Hypoplasia
Small hand, Short neck, Abnormal bone ossification, Short palm, Pectus carinatum, Delayed skeleta... ORPHA:175
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Platyspondyly, Shortening of all middle phalanges of the fingers, Hypoplasia of the odontoid proc... OMIM:226980
Vacterl With Hydrocephalus
Absence of the sacrum, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Mi... ORPHA:3412
Cartilage-Hair Hypoplasia
Asymmetry of the thorax, Narrow chest, Hypoplasia of the odontoid process, Flaring of lower rib c... OMIM:250250
Koolen-De Vries Syndrome
Hip dislocation, Vertebral segmentation defect, Joint hypermobility, Vertebral fusion, Pectus exc... ORPHA:96169
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Thickened Achilles tendon, Arthropathy, L... OMIM:203500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Spinal dysraphism, Butterfly vertebrae OMIM:617660
Phocomelia, Schinzel Type
Finger aplasia, Aplasia/Hypoplasia of the sacrum, Micromelia, Foot oligodactyly, Intrauterine gro... ORPHA:2879
Hurler Syndrome
Hypoplasia of the odontoid process, Umbilical hernia, Joint stiffness, Biconcave vertebral bodies... OMIM:607014
Poland Syndrome
Small hand, Aplasia/Hypoplasia of the sternum, Encephalocele, Congenital diaphragmatic hernia, Ap... ORPHA:2911
Craniofacial Microsomia 1
Hypoplasia of facial musculature, Block vertebrae, Occipital encephalocele, Cervical ribs, Genu v... OMIM:164210
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Intrauterine growth retardation, Conge... ORPHA:887
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Bell-shaped thorax, Micrognathia, Short neck, Anterior rib cu... OMIM:271665
Simpson-Golabi-Behmel Syndrome
Macroglossia, Congenital hip dislocation, Short toe, Camptodactyly of finger, Umbilical hernia, C... ORPHA:373
Duane Retraction Syndrome
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Micrognathia, Aplasia/Hypoplasia ... ORPHA:233
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypoplasia of the odontoid process, Micrognathia, Increased intervertebral space, Limited elbow m... ORPHA:508533
Aarskog-Scott Syndrome
Short 5th finger, Cervical spine hypermobility, Hypoplasia of the odontoid process, Joint hypermo... OMIM:305400
Myhre Syndrome
Platyspondyly, Limitation of joint mobility, Short toe, Generalized muscle hypertrophy, Short fin... OMIM:139210
Aicardi Syndrome
Optic atrophy, Block vertebrae, Small hand, Optic disc coloboma, Butterfly vertebrae, Missing rib... ORPHA:50
Fucosidosis
Anterior beaking of thoracic vertebrae, Absent/hypoplastic paranasal sinuses, Cervical platyspond... OMIM:230000
Kbg Syndrome
Delayed skeletal maturation, Cervical ribs, Rib fusion, Short neck, Short palm, Vertebral fusion,... OMIM:148050
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum, Increased cup-to-disc ratio OMIM:211380
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Patent ductus arteriosus, Decreased... OMIM:602535
Robinow Syndrome
Short distal phalanx of finger, Umbilical hernia, Micrognathia, Kyphoscoliosis, Missing ribs, Rib... ORPHA:97360
Wolf-Hirschhorn Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Decreased muscle mass, Delayed skeletal maturati... OMIM:194190
Faciodigitogenital Syndrome, Autosomal Recessive
Abnormal rib cage morphology, Down-sloping shoulders, Hyperextensible hand joints, Vertebral fusi... OMIM:227330
Generalized Arterial Calcification Of Infancy
Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ... ORPHA:51608
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Fibular aplasia, Humeroradial synostosis, Barrel-shaped chest, Aplasia/hypoplasia of the extremit... OMIM:276820
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Aplasia/Hypoplasia of the radius, Short thumb, Optic disc colo... ORPHA:959
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Optic atrophy, Camptodactyly of finger, Intrauterine growth retardation, Cervical ver... ORPHA:3455
Camptodactyly Syndrome, Guadalajara Type 3
Sternocleidomastoid amyotrophy, Osteopenia, Small hand, Delayed skeletal maturation, Distal short... ORPHA:488434
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Myelomeningocele, Hydrocephal... OMIM:306955
Vater/Vacterl Association
Abnormal vertebral morphology, Occipital encephalocele, Short thumb, Abnormal sternum morphology,... OMIM:192350
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Oeis Complex
Congenital hip dislocation, Absence of the sacrum, Myelomeningocele, 11 pairs of ribs, Hydrocepha... OMIM:258040
Codas Syndrome
Congenital hip dislocation, Hypoplasia of the odontoid process, Delayed skeletal maturation, Genu... OMIM:600373
Currarino Syndrome
Aplasia/Hypoplasia of the sacrum, Sacrococcygeal teratoma ORPHA:1552
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Pectus carinatum, Anterior wedging of T12, Hypoplasia of the odontoid process, Kyp... OMIM:300106
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Neonatal death OMIM:615709
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Small hand, Short distal phalanx of finger, Rhizomelia, Hypoplastic sacrum, Short met... OMIM:614813
Fanconi Anemia, Complementation Group L
Absent thumb, Hypoplastic sacrum, Intrauterine growth retardation, Micrognathia, Short neck, Hydr... OMIM:614083
Currarino Syndrome
Absence of the sacrum, Bifid sacrum, Anterior sacral meningocele, Presacral teratoma, Hemisacrum OMIM:176450
Heterotaxy, Visceral, 5, Autosomal
Intrauterine growth retardation, Absence of the sacrum, Patent ductus arteriosus OMIM:270100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplastic sacrum OMIM:604292

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 Msgn1

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 Msgn1.

No publications found that use IMPC mice or data for Msgn1.

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MGI Allele Allele Type Produced
Msgn1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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