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Gene: Cbx5 MGI:109372

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Gene Summary

Name:
chromobox 5
Synonyms:
heterochromatin protein 1 alpha,  2610029O15Rik,  HP1a,  HP1,  Hp1alpha,  Hp1a

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
vertebral fusion Cbx5tm1a(EUCOMM)Wtsi HOM Early adult 2.57×10-09
increased grip strength Cbx5tm1a(EUCOMM)Wtsi HOM   Early adult 2.85×10-06
vertebral transformation Cbx5tm1a(EUCOMM)Wtsi HOM Early adult 1.56×10-10
fusion of vertebral arches Cbx5tm1a(EUCOMM)Wtsi HOM Early adult 4.88×10-08
decreased circulating glucose level Cbx5tm1a(EUCOMM)Wtsi HOM Early adult 6.23×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Legacy Phenotype Associated Images
Cbx5tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Cbx5tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Cbx5tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Cbx5tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Cbx5tm1a(EUCOMM)Wtsi
HOM, Female, WTSI

View all 86 images

Cbx5tm1a(EUCOMM)Wtsi
enlarged lateral ventricles, lateral ventricle, HOM, Male, WTSI
Cbx5tm1a(EUCOMM)Wtsi
corpus callosum, increased corpus callosum size, HOM, Male, WTSI
Cbx5tm1a(EUCOMM)Wtsi
increased corpus callosum size, HOM, Male, WTSI
Cbx5tm1a(EUCOMM)Wtsi
corpus callosum, increased corpus callosum size, HOM, Male, WTSI
Cbx5tm1a(EUCOMM)Wtsi
lateral ventricle, enlarged lateral ventricles, HOM, Male, WTSI

View all 8 images

Cbx5tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Cbx5 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 Cbx5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... ORPHA:2064
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Multiple Synostoses Syndrome 2
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... OMIM:610017
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Fused cervical vertebrae, Type II diabetes mellitus, Abnormal sacrum morp... ORPHA:1436
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis OMIM:613702
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... OMIM:277300
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Glucose int... OMIM:309620
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... OMIM:618469
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae OMIM:616566
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Scoliosis, Hemivertebrae OMIM:122600
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Hip osteoarthritis, Heberden's node, Platyspondyly, Beaking of ver... OMIM:604864
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly OMIM:269630
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Sclerotic vertebral body, Abnormal form of t... ORPHA:2777
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Maternal diabetes, Scoliosis, Abnormality of the humeroulnar joint ORPHA:1570
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... ORPHA:66637
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral segmentation defect, Vertebral fusion OMIM:618845
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Brachydactyly, Type B1
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Jo... OMIM:113000
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Short neck, Cervical C2/C3 vertebral fusion, Scoliosis OMIM:214300
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination OMIM:244600
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Knee flexion contracture, Vertebral fusion, Hip contracture, Multiple pterygia, Elbow flexion con... OMIM:178110
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Ab... ORPHA:2345
Verheij Syndrome
Vertebral fusion, Hip dislocation, Short neck, Scoliosis, Hemivertebrae OMIM:615583
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Delayed skeletal maturation ORPHA:314802
Asymmetric Short Stature Syndrome
Fused cervical vertebrae, Lumbar scoliosis OMIM:108450
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... ORPHA:411593
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contracture of the p... OMIM:609813
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scoliosis OMIM:606612
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Scoliosis, Lumbar hyperlordosis ORPHA:313892
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Vertebral segmentation defect, Hemivertebrae, Short neck OMIM:608681
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:3109
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Patellar dislocation, Kyphosis, Hypoplastic vertebral bodies, Elbow dislocation... ORPHA:2916
Osteogenesis Imperfecta, Type Vi
Increased susceptibility to fractures, Biconcave vertebral bodies, Protrusio acetabuli, Joint lax... OMIM:613982
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... ORPHA:93315
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Short neck, Delayed skeletal maturation, Scoliosis, Persiste... ORPHA:2332
Alkaptonuria
Vertebral fusion, Kyphosis, Arthropathy, Low back pain, Arthritis, Limited hip movement, Limited ... OMIM:203500
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Spina bifida occulta, Abnormali... OMIM:613686
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... ORPHA:90650
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:312150
Gorlin Syndrome
Scoliosis, Vertebral fusion, Hemivertebrae, Vertebral wedging ORPHA:377
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Scoliosis, Fused thoracic vertebrae ORPHA:1445
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:253290
Immunodeficiency 11
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Kniest Dysplasia
Delayed epiphyseal ossification, Arthropathy, Anterior vertebral fusion, Fused cervical vertebrae... ORPHA:485
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Complete or near-complete absence o... OMIM:607271
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Short neck, Cervical C2/C3 vertebral fusion, Scoliosis OMIM:118100
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplasia, Short neck, Cervical C2/C3 ve... OMIM:616549
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Aarskog-Scott Syndrome
Camptodactyly of finger, Abnormality of the cervical spine, Abnormal vertebral segmentation and f... ORPHA:915
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Short neck, Kyphosis ORPHA:2522
Caudal Regression Syndrome
Maternal diabetes, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scol... ORPHA:3027
Spondylocarpotarsal Synostosis Syndrome
Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Capitate-hamate fusion, Block vertebrae, Vert... OMIM:272460
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Ectopic ossification in... OMIM:135100
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Partial fusion of tarsals, Genu valgum, Knee ... OMIM:305620
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short neck, Scoliosis, Hemivertebrae OMIM:271520
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Lamb-Shaffer Syndrome
Thoracic kyphosis, Fused cervical vertebrae, Scoliosis ORPHA:530983
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Generalized joint laxity, Facet joint arthrosis, Hip dislocation, Joint hyp... OMIM:618000
Larsen Syndrome
Vertebral fusion, Accessory carpal bones, Spondylolysis, Cervical kyphosis, Hip dislocation, Join... OMIM:150250
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Vertebral fusion, Kyphosis, Joint hypermobility, Short neck, Scoliosi... OMIM:130720
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Anterior vertebral fusion, Radioulnar synostosis, Elbow disloca... OMIM:171480
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Hip dislocation, Scoliosis, Joint hype... ORPHA:96169
Chromosome 8Q22.1 Duplication Syndrome
Limitation of joint mobility, Enlarged interphalangeal joints, Interphalangeal joint contracture ... OMIM:151200
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Spinal canal... ORPHA:1724
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... OMIM:265000
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Accelerated skeletal maturation, Hypoglycemia, Scolios... OMIM:617190
Koolen-De Vries Syndrome
Sacral dimple, Vertebral fusion, Kyphosis, Hip dislocation, Joint hypermobility, Spondylolisthesi... OMIM:610443
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... OMIM:240500
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Osteolysis, Joint swelling, Osteopenia OMIM:612852
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Basal Cell Nevus Syndrome 1
Vertebral fusion, Vertebral wedging, Kyphoscoliosis, Scoliosis, Hemivertebrae, Irregular ossifica... OMIM:109400
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Fused cervical vertebrae, Butterfly vertebrae OMIM:619227
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sacral dimple, Vertebral fusion, Hyperextensibility of the finger joints, Joint hypermobility, Sh... OMIM:213980
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Increased bone mineral density, Synostosis of carpal bones, Carpal synos... ORPHA:90652
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... OMIM:607594
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Patellar dislocation, Fused cervical vertebrae, Hip dislocation, Scoliosis, Aplasia/H... ORPHA:3320
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Pr... OMIM:268310
Kbg Syndrome
Vertebral arch anomaly, Vertebral fusion, Thoracic kyphosis, Short neck, Delayed skeletal maturation OMIM:148050
Microphthalmia, Syndromic 3
Vertebral fusion, Butterfly vertebrae, Vertebral hypoplasia, Hemivertebrae OMIM:206900
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar scoliosis, Lumbar hyperlordosis OMIM:617796
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Anteriorly placed odontoid process, Scoliosis, Cervical C2/... ORPHA:268882
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Limited elbow movement, Joint contracture of ... ORPHA:1826
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Flat acetabular roof, Wormian bones OMIM:617159
Duane Retraction Syndrome
Camptodactyly, Spina bifida occulta, Abnormal vertebral segmentation and fusion, Short neck, Abno... ORPHA:233
Thakker-Donnai Syndrome
Hemivertebrae, Short neck, Cervical C2/C3 vertebral fusion ORPHA:1780
Atelosteogenesis, Type I
Vertebral hypoplasia, Fused cervical vertebrae, Elbow dislocation, Short neck, Knee dislocation, ... OMIM:108720
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Vertebral fusion, Vertebral segmentation defect, Accelerated skeletal ma... ORPHA:373
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgE, Impaired Ig class switch recombination, I... OMIM:308230
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Vertebral fusion, Camptodactyly OMIM:227330
Myhre Syndrome
Vertebral fusion, Camptodactyly, Limitation of joint mobility, Enlarged vertebral pedicles, Short... OMIM:139210
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function ORPHA:277
Aicardi Syndrome
Hemivertebrae, Butterfly vertebrae, Scoliosis, Block vertebrae OMIM:304050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Generalized joint laxity, Thoracic hemivertebrae, Fused cervical vertebra... ORPHA:508498
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Block vertebrae ORPHA:50
Apert Syndrome
Delayed cranial suture closure, Sagittal craniosynostosis, Limited elbow movement, Humeroradial s... OMIM:101200
Duane-Radial Ray Syndrome
Spina bifida occulta, Shoulder dislocation, Scoliosis, Fused cervical vertebrae OMIM:607323
Wolf-Hirschhorn Syndrome
Sacral dimple, Vertebral fusion, Kyphosis, Hip dislocation, Radioulnar synostosis, Abnormal stern... OMIM:194190
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Robinow Syndrome
Radioulnar dislocation, Kyphoscoliosis, Scoliosis, Hemivertebrae, Fused thoracic vertebrae ORPHA:97360
Frontometaphyseal Dysplasia 2
Hip contracture, Fused cervical vertebrae, Camptodactyly, Elbow contracture, Dislocated radial he... OMIM:617137
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Fused cervical vertebrae, Carpal synostosis, Joint laxity, Joint h... OMIM:157800
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion OMIM:616368
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Patellar dislocation, Patellar aplasia, Fused cervical vertebrae, Hip dislocation, Ca... OMIM:274000
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Absence of the sacrum, Block vertebrae OMIM:306955
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Abnormal vertebral morphology, Hyperglycemia, Tracheomalacia, Cervical C2/C3 ver... ORPHA:444077
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Tracheobronchomalacia, Camptodactyly, Hip dislocation, Short neck, Cervical C5/C6 ... OMIM:613458
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Fused cervical vertebrae, Contracture of the distal interphalangeal joi... ORPHA:83617
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... ORPHA:35078
Orotic Aciduria
Impaired T cell function OMIM:258900
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Fused cervical vertebrae, Abnormal hip joint morphology, S... ORPHA:51608
Craniofacial Microsomia
Genu valgum, Vertebral hypoplasia, Block vertebrae, Scoliosis, Hemivertebrae OMIM:164210
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion OMIM:211380
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Reduced natural killer cell activity, Abnormal delayed hypersens... OMIM:301000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000

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 Cbx5

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 Cbx5.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cbx5tm1a(EUCOMM)Wtsi PMC6671969
Aurora kinase B-phosphorylated HP1α functions in chromosomal instability. Cell cycle (Georgetown, Tex.) (May 2019) Cbx5tm1a(EUCOMM)Wtsi PMC6592258
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cbx5tm1a(EUCOMM)Wtsi PMC6459510

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MGI Allele Allele Type Produced
Cbx5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cbx5em1(IMPC)Ccpcz Exon Deletion Mice
Cbx5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cbx5tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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