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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Scoliosis, Spina bifida, Abnormal cranial nerve morphology, Abnormality of the vertebral column, ... ORPHA:2345
Wildervanck Syndrome
Meningocele, Pseudopapilledema, Facial palsy, Short neck, Fused cervical vertebrae ORPHA:3456
Iniencephaly
Hyperlordosis, Mandibular aplasia, Spina bifida, Arthrogryposis multiplex congenita, Holoprosence... ORPHA:63259
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Vertebral segmentation defect, Hemivertebrae, Vertebral fusion, Abnorma... OMIM:613686
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Pectus carinatum, Ovoid vertebral bodies, Genu varum, Hyperconvex vertebral body endpl... OMIM:184255
Odontoid Hypoplasia
Atlantoaxial instability, Cervical instability, Dystopic os odontoideum, Hypoplasia of the odonto... OMIM:613628
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Widening of cervical spinal canal, Nemaline bodies, Cervical vertebral bodies with decreased ante... OMIM:606842
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Joint laxity, Central vertebral hypoplasia, Bell-shaped thor... OMIM:602557
Diaphanospondylodysostosis
Short thorax, Short neck, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnorma... ORPHA:66637
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 facet hypoplasia, Cervical vertebral dysplasia, Anterior atlanto-occipital dis... OMIM:118005
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Narrow chest, Abnormal enchon... ORPHA:2635
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Fused cervical vertebrae OMIM:214300
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Kyphosis, Abnormalit... ORPHA:2522
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Fused cervical vertebrae, Abno... ORPHA:1436
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Antecubital pterygiu... OMIM:618469
Femoral-Facial Syndrome
Scoliosis, Humeroradial synostosis, Short fifth metatarsal, Radioulnar synostosis, Short fourth m... OMIM:134780
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Fused cervical vertebrae, Prom... OMIM:309620
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Micrognathia, Flexion contracture, Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Acet... OMIM:616549
Asymmetric Short Stature Syndrome
Hemihypotrophy of lower limb, Lumbar scoliosis, Fused cervical vertebrae, Micrognathia OMIM:108450
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Kniest Dysplasia
Platyspondyly, Short thorax, Enlarged joints, Flexion contracture of finger, Arthropathy, Coronal... ORPHA:485
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Congenital ... OMIM:265000
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Scapular winging, Anteriorly placed odontoid pro... OMIM:305620
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Sprengel anomaly, Congenital muscular torticollis, Cervical C2/C3 vertebral fusion, Ab... OMIM:118100
Lamb-Shaffer Syndrome
Scoliosis, Micrognathia, Thoracic kyphosis, Optic atrophy, Fused cervical vertebrae ORPHA:530983
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Shoulder muscle hypoplasia, Sprengel anomaly, Hemiverteb... OMIM:184400
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Short distal phalanx of toe, Patent ductus arteriosus, Short distal phalanx... ORPHA:79345
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Short finger, Cervical kyphosis, ... OMIM:222600
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Joint laxity, Flat acetabular roof, Joint stiffness, Acetabula... ORPHA:750
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Short neck, Pectus carinatum, Low back pain, Hemivertebrae, Vert... OMIM:122600
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short 5th metacarpal, Short distal phalanx of finger, Cervical C2/C3 verteb... ORPHA:370010
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Synostosis of carpals/tarsals, Rib fusion, Short foot... OMIM:157800
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Absence of the sacrum, Spina bifida occulta, Myelomeningocele, Hydroc... OMIM:182940
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Short hallux, Ectopic ossification in muscle tissue, ... OMIM:135100
Fibrochondrogenesis 1
Camptodactyly, Short neck, Thin clavicles, Posterior vertebral hypoplasia, Rhizomelia, Anterior r... OMIM:228520
Richieri Costa-Da Silva Syndrome
Genu valgum, Generalized bone demineralization, Decreased muscle mass, Pectus carinatum, Beaking ... ORPHA:3101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, EMG: myopathic abnormalities, Macroglossia, Shoulder girdle muscle atro... OMIM:606612
Metatropic Dysplasia
Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Anisospondyly, Long coccyx, Narrow ... OMIM:156530
Atelosteogenesis, Type I
Fibular aplasia, Short femur, Short metatarsal, Stillbirth, Narrow chest, Elbow dislocation, Coro... OMIM:108720
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Spina bifida occulta, Fused cervical vertebrae, Butterfly ver... OMIM:619227
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Vertebral segmentation defect, Intr... ORPHA:1797
Diastrophic Dwarfism
Scoliosis, Abnormal clavicle morphology, Camptodactyly of finger, Hypoplastic cervical vertebrae,... ORPHA:628
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Craniosynostosis, Short metatarsal, Limitation of knee mobilit... ORPHA:1826
Greenberg Dysplasia
Epiphyseal stippling, Narrow chest, Abnormal scapula morphology, Abnormal pelvis bone ossificatio... OMIM:215140
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the small joints of the hand,... OMIM:601344
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Scoliosis, Vertebral hypoplasia, Epiphyseal stippling, Congenital hip dislocation, Stillbirth, Hy... OMIM:308050
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Vertebral segmenta... OMIM:609813
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fibular aplasia, Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Cervical... ORPHA:3320
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Spina bifida, Fibular aplasia, Shoulder muscle hypoplasia, Carpal bone hyp... OMIM:274000
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect, Micrognathia OMIM:221950
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Generalized bone demineralization, Joint laxity, Abnorma... ORPHA:93352
Dysosteosclerosis
Platyspondyly, Delayed closure of the anterior fontanelle, Sclerosis of hand bone, Broad ribs, Na... OMIM:224300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Cervical hemivertebrae, Short 5th finger, Generalized joint laxity, Micrognathia, T... ORPHA:508498
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Patent ductus arteriosus, Rib fusion, Hemivertebrae, Vertebral fusion, Opti... OMIM:206900
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Abnormal vertebral morphology, Spina bifida occulta at S1, Hypop... OMIM:601829
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Short 1st metacarpal, Absent thumb, Optic nerve hypoplasia, Short thumb... OMIM:609053
Duane-Radial Ray Syndrome
Scoliosis, Small thenar eminence, Hypoplasia of the radius, Aplasia of metacarpal bones, Aganglio... OMIM:607323
Arnold-Chiari Malformation Type I
Scoliosis, Anteriorly placed odontoid process, Cranial nerve compression, Cervical C2/C3 vertebra... ORPHA:268882
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Craniosynostosis, Tarsal synost... OMIM:178110
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Lim... ORPHA:93284
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Genu valgum, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Recurrent fractures, Abn... ORPHA:93315
Craniofaciofrontodigital Syndrome
Narrow chest, Umbilical hernia, Abnormality of the ribs, Abnormal shoulder morphology, Hypoplasti... ORPHA:363705
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly, Lambdoidal craniosynostosis, Short distal phalanx of finger, Coronal... OMIM:601370
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Platyspondyly, Short metatarsal, Upper ... OMIM:271650
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Broad ribs, Flaring of rib cage, Osteopenia, Fused cervical vertebrae... OMIM:612852
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Short thorax, Patent ductus arteriosus, Sacral dimple, Vertebral fusion, Vertebral segmentation d... OMIM:618845
Caudal Regression Sequence
Scoliosis, Decreased muscle mass, Arrhinencephaly, Joint stiffness, Abnormal vertebral segmentati... ORPHA:3027
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Short neck, Pectus carinatum, Knee pain, Irregular vertebral endplates, Lumbar hyp... OMIM:184100
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Short finger, Flexion contracture, Thin ribs, Abnormal cervical curvature, Ver... OMIM:312150
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Short distal phalanx of fi... OMIM:184460
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Micrognathia, Pectus e... OMIM:130720
Ulnar Hemimelia
Scoliosis, Short forearm, Spinal dysraphism, Elbow pain, Limited shoulder movement, Antecubital p... ORPHA:93320
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Short finger, Flexion contracture, Thin ribs, Abnormal cervical curvature, Ver... OMIM:253290
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... ORPHA:2790
Brachydactyly, Type B1
Hypoplastic sacrum, Short middle phalanx of finger, Camptodactyly, Hemivertebrae, Vertebral fusio... OMIM:113000
Opsismodysplasia
Anterior rib cupping, Scoliosis, Narrow chest, Rhizomelia, Bell-shaped thorax, Severe platyspondy... OMIM:258480
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Narrow chest, Pectus carinatum, Short middle phalanx of finger, Pectus excavat... OMIM:263540
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Elbow dislocation, Abnormal form of the vertebral bodies, Kyphosis, Congenital muscula... ORPHA:2916
Patterson Pseudoleprechaunism Syndrome
Irregular acetabular roof, Genu valgum, Small cervical vertebral bodies, Joint swelling, Cervical... OMIM:169170
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Pectus carinatum, Carpal bone hypoplas... OMIM:184252
Mosaic Trisomy 20
Scoliosis, Narrow chest, Down-sloping shoulders, Kyphosis, Vertebral segmentation defect, Vertebr... ORPHA:1724
Aarskog-Scott Syndrome
Camptodactyly of finger, Genu recurvatum, Joint hyperflexibility, Pectus excavatum, Umbilical her... ORPHA:915
Thakker-Donnai Syndrome
Hemivertebrae, Cervical C2/C3 vertebral fusion, Congenital diaphragmatic hernia, Intrauterine gro... ORPHA:1780
Ring Chromosome 21 Syndrome
Scoliosis, Holoprosencephaly, Abnormal thorax morphology, Fused thoracic vertebrae, Thoracic hemi... ORPHA:1445
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Irregularity of vertebral bodies, Short palm, Small hand, Hypoplasia of the odonto... ORPHA:85172
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Dysosteosclerosis
Platyspondyly, Abnormal cranial nerve morphology, Recurrent fractures, Irregular vertebral endpla... ORPHA:1782
Gurrieri Syndrome
Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar vertebral bodies, Delayed s... OMIM:601187
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Narrow chest, Coronal cleft vertebrae, Mesomelic/rhizomelic ... ORPHA:2347
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Wormian bones, Short metatarsal, Spina bifida occulta, Short fe... OMIM:211910
Poland Syndrome
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Hypoplasia of latissi... OMIM:173800
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Abnormal form of the vertebral bodies, Rib segm... ORPHA:2311
Gm1-Gangliosidosis, Type I
Thickened ribs, Scoliosis, Beaking of vertebral bodies, Kyphosis, Joint stiffness, Intrauterine g... OMIM:230500
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Elbow dislocation, Micrognathia, Phalangeal dislocation, Camptodactyly,... OMIM:264180
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Spina bifida, Short 4th metacarpal, Abnormal ste... OMIM:109400
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Pectus carinatum, Lumbar hyperlordosis, Vertebral fusion, Opt... ORPHA:313892
Smith-Mccort Dysplasia 1
Scoliosis, Atlantoaxial instability, Genu valgum, Multicentric femoral head ossification, Promine... OMIM:607326
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Macroglossia, Congenital muscular dystrophy, Kyphosis, Pelvic girdle mu... OMIM:607155
Hemifacial Microsomia
Vertebral hypoplasia, Hypoplasia of facial musculature, Branchial anomaly, Patent ductus arterios... OMIM:164210
Kniest-Like Dysplasia, Lethal
Platyspondyly, Broad ribs, Narrow chest, Coronal cleft vertebrae, Rhizomelia, Patent ductus arter... OMIM:245190
Larsen Syndrome
Scoliosis, Multiple carpal ossification centers, Dislocated wrist, Hypoplastic cervical vertebrae... OMIM:150250
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Vertebral fusion, Cervical rib... ORPHA:2332
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Joint laxity, Carpal bone hypoplasia, Limited shoulder movemen... OMIM:177170
Becker Nevus Syndrome
Scoliosis, Shoulder girdle muscle atrophy, Pectus carinatum, Pectus excavatum, Kyphosis, Rib fusi... ORPHA:64755
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Cervical spinal canal stenosis, Thoracic hypoplasia, Bell-shaped... ORPHA:397715
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Thoracic kyphosis, Carpal bone hypoplasia, Camptodacty... OMIM:223800
Dyggve-Melchior-Clausen Disease
Atlantoaxial instability, Limited elbow extension, Short thorax, Genu valgum, Platyspondyly, Broa... ORPHA:239
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Cervical C5/C6 vertebrae fusion, Optic atrophy, Vertebral segmen... ORPHA:87
Otopalatodigital Syndrome Type 1
Short hallux, Synostosis of carpal bones, Elbow dislocation, Hypoplastic frontal sinuses, Increas... ORPHA:90650
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Accelerated skeletal maturation, Short metatarsal, Acetabular dysplasia, Joint stiffne... ORPHA:93307
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Hip dislocation, Short neck, Short 5th finger OMIM:615583
Hajdu-Cheney Syndrome
Scoliosis, Wormian bones, Hypoplastic 5th lumbar vertebrae, Patent ductus arteriosus, Bone pain, ... ORPHA:955
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Hyperlordosis, Anterior rib cupping, Genu valgum, Delayed pubic bone ossification, Pla... OMIM:184250
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Accelerated skeletal maturation, Dislocated radial head, Epiphyseal stippling, Short m... OMIM:101800
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Short hallux, Fibular aplasia, Tarsal synostosis, Narrow ches... ORPHA:90652
Achondrogenesis Type 1B
Short thorax, Narrow chest, Abnormal enchondral ossification, Micrognathia, Umbilical hernia, Sho... ORPHA:93298
Mucopolysaccharidosis, Type Vi
Genu valgum, Macroglossia, Prominent sternum, Broad ribs, Ovoid vertebral bodies, Umbilical herni... OMIM:253200
Opsismodysplasia
Narrow chest, Pectus excavatum, Abnormally ossified vertebrae, Joint stiffness, Hypoplastic verte... ORPHA:2746
Phaver Syndrome
Camptodactyly of finger, Radioulnar synostosis, Abnormal form of the vertebral bodies, Intrauteri... ORPHA:2876
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Neural tube defect OMIM:600776
Frontometaphyseal Dysplasia 2
Scoliosis, Dislocated radial head, Decreased muscle mass, Short metatarsal, Congenital hip disloc... OMIM:617137
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Genu valgum, Short thorax, Enlarged joints, Platyspondyly, Narrow chest, Pectus carina... ORPHA:93314
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Thoracic hypoplasia, Hypoplas... OMIM:114290
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Vertebral fusion, Cervical ribs, Delayed skeletal maturation, Vert... OMIM:148050
Gorlin Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Vertebral wedging, Hydrocephalus ORPHA:377
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Synostosis of... ORPHA:93351
Mucopolysaccharidosis, Type Vii
Scoliosis, Thoracolumbar kyphosis, Genu valgum, Platyspondyly, Pectus carinatum, Flexion contract... OMIM:253220
Atelosteogenesis Type Ii
Narrow chest, Elbow dislocation, Camptodactyly, Short lower limbs, Micrognathia, Short neck, Elbo... ORPHA:56304
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Wormian bones, Platyspondyly, Prominent sternum, Hypoplasia of the odontoid... OMIM:300232
Craniofaciofrontodigital Syndrome
Joint hypermobility, Cubitus valgus, Broad ribs, Pectus excavatum, Short neck, Hypoplastic verteb... OMIM:114620
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Holoprosencephaly, Short distal phalanx of finger, Hypoplastic vertebral bodies... ORPHA:2163
Multiple Synostoses Syndrome 1
Short hallux, Dislocated radial head, Cubitus valgus, Tarsal synostosis, Abnormal vertebral morph... OMIM:186500
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Lateral clavicle hook, Radioulnar synostosis, Elbow dislocation, Short ... OMIM:171480
Atelosteogenesis Type Iii
Thoracolumbar kyphosis, Vertebral hypoplasia, Fibular aplasia, Absent humerus, Coronal cleft vert... ORPHA:56305
White Forelock With Malformations
Joint hyperflexibility, Sprengel anomaly, Spina bifida occulta, Abnormality of the ribs, Delayed ... ORPHA:2475
Apert Syndrome
Humeroradial synostosis, Synostosis of carpal bones, Delayed cranial suture closure, Coronal cran... OMIM:101200
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Atlantoaxial instability, Delayed pubic bone ossification, Platyspondyly, Short neck, ... OMIM:183900
Gm1 Gangliosidosis Type 1
Platyspondyly, Macroglossia, Pectus carinatum, Beaking of vertebral bodies T12-L3, Acetabular dys... ORPHA:79255
Mucopolysaccharidosis, Type Iva
Scoliosis, Osteoporosis, Genu valgum, Prominent sternum, Hyperlordosis, Joint laxity, Platyspondy... OMIM:253000
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Mesomelia... ORPHA:1836
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Macroglossia, Micrognathia, Pectus excavatum, Rib fusion, Umbilica... OMIM:268310
Infantile Liver Failure Syndrome 3
Beaking of vertebral bodies, Platyspondyly, Hypoplastic vertebral bodies, Abnormal acetabulum mor... OMIM:618641
Schneckenbecken Dysplasia
Accelerated skeletal maturation, Lateral clavicle hook, Advanced tarsal ossification, Narrow ches... ORPHA:3144
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Thin ribs, Vertebral f... OMIM:271520
Mucopolysaccharidosis, Type Ivb
Scoliosis, Osteoporosis, Genu valgum, Prominent sternum, Hyperlordosis, Joint laxity, Platyspondy... OMIM:253010
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Contracture of the distal interphalangeal joint of the fingers, Fused cervical vertebrae, Thin ri... ORPHA:83617
Dyggve-Melchior-Clausen Syndrome, X-Linked
Scoliosis, Hypoplastic sacrum, Genu valgum, Prominent sternum, Short neck, Platyspondyly, Distal ... OMIM:304950
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Joint hyperflexibility, Umbilical hernia, Reduced bone minera... ORPHA:1488
Sacral Defect With Anterior Meningocele
Hemisacrum, Back pain, Anterior sacral meningocele, Meningocele, Absence of the sacrum OMIM:600145
Eiken Syndrome
Cubitus valgus, Short toe, Abnormal bone ossification, Limited hip movement, Short foot, Fibular ... ORPHA:79106
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Patent ductus arteriosus, Short distal phalanx of finger, Short thumb, Congenital d... ORPHA:1120
Diamond-Blackfan Anemia 1
Hypoplasia of the radius, Hypoplastic coccygeal vertebrae, Narrow chest, Micrognathia, Intrauteri... OMIM:105650
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Hyperlordosis, Limited elbow extension, Scapular winging, Tarsal synostosis, Pectus ca... OMIM:272460
Metaphyseal Acroscyphodysplasia
Scoliosis, Accelerated skeletal maturation, Platyspondyly, Craniosynostosis, Biconcave vertebral ... OMIM:250215
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic sacrum, Absence of the sacrum, Spinal dysraphism, Butterfly vertebrae OMIM:617660
Smith-Mccort Dysplasia 2
Platyspondyly, Genu valgum, Short metatarsal, Pectus carinatum, Barrel-shaped chest, Short metaca... OMIM:615222
Sirenomelia
Absence of the sacrum, Spina bifida, Sirenomelia, Aplasia/Hypoplasia of the radius ORPHA:3169
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Wormian bones, Joint laxity, Biconcave vertebral bodies, Recurrent fractures... OMIM:617952
Aicardi Syndrome
Scoliosis, Spina bifida, Rib fusion, Hemivertebrae, Optic atrophy, Block vertebrae, Supernumerary... OMIM:304050
Hurler Syndrome
Biconcave vertebral bodies, C1-C2 subluxation, Kyphosis, Flexion contracture, Umbilical hernia, J... OMIM:607014
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Osteoporosis, Genu valgum, Hyperlordosis, Irregular carpal bones, Hip subluxation, Irregular tars... OMIM:226980
Mucolipidosis Ii Alpha/Beta
Macroglossia, Lower thoracic interpediculate narrowness, Diastasis recti, Carpal bone hypoplasia,... OMIM:252500
Vacterl With Hydrocephalus
Spina bifida, Hypoplasia of the radius, Abnormal form of the vertebral bodies, Arrhinencephaly, A... ORPHA:3412
Multiple Sulfatase Deficiency
Hypoplastic vertebral bodies, Hydrocephalus OMIM:272200
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Narrow chest, Rib fusion, Intrauterine growth retardation, Hemivertebrae, Vertebral fu... ORPHA:94095
Alkaptonuria
Intervertebral disc degeneration, Thickened Achilles tendon, Low back pain, Kyphosis, Limited hip... OMIM:203500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Macroglossia, Hip subluxation, Abnormal vertebral morphology, Patent ductus arteri... ORPHA:444077
Fucosidosis
Scoliosis, Macroglossia, Absent/hypoplastic coccyx, Shield chest, Absent/hypoplastic paranasal si... OMIM:230000
Cole-Carpenter Syndrome
Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, Joint hyperflexibility, Kyphosis... ORPHA:2050
Holt-Oram Syndrome
Abnormal clavicle morphology, Scoliosis, Radioulnar synostosis, Pectus excavatum, Sprengel anomal... ORPHA:392
Cartilage-Hair Hypoplasia
Scoliosis, Accelerated skeletal maturation, Narrow chest, Spinal dysraphism, Abnormality of the r... ORPHA:175
Phocomelia, Schinzel Type
Humeroradial synostosis, Hypoplasia of the radius, Fibular aplasia, Micrognathia, Foot oligodacty... ORPHA:2879
Cartilage-Hair Hypoplasia
Scoliosis, Joint hypermobility, Limited elbow extension, Short palm, Aganglionic megacolon, Lumba... OMIM:250250
Koolen-De Vries Syndrome
Scoliosis, Joint hyperflexibility, Pectus excavatum, Kyphosis, Vertebral fusion, Hip dislocation,... ORPHA:96169
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Pectus excavatum, Kyphosis, Patent ductus arteriosus, Sacral dimp... OMIM:610443
Duane Retraction Syndrome
Hypoplasia of the radius, Abnormal form of the vertebral bodies, Micrognathia, Camptodactyly, Abs... ORPHA:233
Charcot-Marie-Tooth Disease Type 4C
Tibialis atrophy, Scapular winging, Decreased muscle mass, Abnormality of the vertebral column, A... ORPHA:99949
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Anterior rib cupping, Scoliosis, Atlantoaxial instability, Epiphyseal stippling, Hip subluxation,... OMIM:271665
Poland Syndrome
Scoliosis, Absent hand, Abnormal sternum morphology, Hemivertebrae, Missing ribs, Spina bifida oc... ORPHA:2911
Acrodysostosis With Multiple Hormone Resistance
Scoliosis, Accelerated skeletal maturation, Short metatarsal, Absent/hypoplastic paranasal sinuse... ORPHA:280651
Simpson-Golabi-Behmel Syndrome
Scoliosis, Accelerated skeletal maturation, Camptodactyly of finger, Macroglossia, Short toe, Con... ORPHA:373
Myhre Syndrome
Platyspondyly, Broad ribs, Skeletal muscle hypertrophy, Camptodactyly, Short finger, Patent ductu... OMIM:139210
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Abnormal thorax morphology, Acetabular dysplasia, Micrognathia, Elbow flexion c... ORPHA:508533
Aicardi Syndrome
Scoliosis, Optic disc coloboma, Rib fusion, Small hand, Optic atrophy, Block vertebrae, Supernume... ORPHA:50
Marshall-Smith Syndrome
Scoliosis, Accelerated skeletal maturation, Pectus excavatum, Short sternum, Patent ductus arteri... OMIM:602535
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Aarskog-Scott Syndrome
Scoliosis, Joint laxity, Pectus excavatum, Short palm, Short foot, Cervical spine hypermobility, ... OMIM:305400
Robinow Syndrome
Scoliosis, Mesomelic arm shortening, Radioulnar dislocation, Rib fusion, Umbilical hernia, Hemive... ORPHA:97360
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Abnormal hip joint morphology, Hypo... ORPHA:51608
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Pectus excavatum, Down-sloping shoulders, Camptodactyly, Abnormal ri... OMIM:227330
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hemivertebrae, Phocomelia, Short neck, Barrel-shaped chest, Elbow flexion contracture, Hypoplasia... OMIM:276820
Wolf-Hirschhorn Syndrome
Scoliosis, Short hallux, Decreased muscle mass, Radioulnar synostosis, Abnormal form of the verte... OMIM:194190
Camptodactyly Syndrome, Guadalajara Type 3
Short foot, Small hand, Spina bifida occulta, Sternocleidomastoid amyotrophy, Abnormality of the ... ORPHA:488434
Acro-Renal-Ocular Syndrome
Short hallux, Optic disc coloboma, Aganglionic megacolon, Hypoplasia of the ulna, Short humerus, ... ORPHA:959
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Thoracic hemivertebrae, Lipomyelomeningoc... ORPHA:268810
Wiedemann-Rautenstrauch Syndrome
Joint hypermobility, Cervical vertebral dysplasia, Camptodactyly of finger, Short femur, Skeletal... ORPHA:3455
Currarino Syndrome
Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum ORPHA:1552
Codas Syndrome
Scoliosis, Genu valgum, Congenital hip dislocation, Coronal cleft vertebrae, Generalized joint la... OMIM:600373
Spondyloepimetaphyseal Dysplasia, X-Linked
Limited elbow extension, Platyspondyly, Pectus carinatum, Delayed ossification of carpal bones, K... OMIM:300106
Oeis Complex
Congenital hip dislocation, Sacral segmentation defect, Hemivertebrae, Absence of the sacrum, 11 ... OMIM:258040
Vater/Vacterl Association
Scoliosis, Spina bifida, Hypoplasia of the radius, Radioulnar synostosis, Abnormal vertebral morp... OMIM:192350
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Hypoplastic sacrum, Short metatarsal, Short distal phalanx of finger, Small hand, Short metacarpa... OMIM:614813
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Patent ductus arteriosus OMIM:306955

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) Targeting vectors, ES Cells

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