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Gene: Cbx5 MGI:109372

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Gene Summary

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

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
vertebral transformation Cbx5tm1a(EUCOMM)Wtsi HOM Early adult 1.56×10-10
decreased circulating glucose level Cbx5tm1a(EUCOMM)Wtsi HOM Early adult 6.23×10-05
increased grip strength Cbx5tm1a(EUCOMM)Wtsi HOM   Early adult 2.85×10-06
fusion of vertebral arches Cbx5tm1a(EUCOMM)Wtsi HOM Early adult 4.88×10-08

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 Forepaw

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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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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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
Decreased circulating IgG level, Reduced delayed hypersensitivity 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
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... OMIM:277300
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Thoracic hemivertebrae, Type II diabetes mellitus, Fused cervical vertebrae, Abnormal ... ORPHA:1436
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Symbrachydactyly Of Hands And Feet
Scoliosis, Maternal diabetes, Vertebral segmentation defect, Abnormality of the humeroulnar joint ORPHA:1570
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Glucose intolerance, Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metop... OMIM:309620
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Antecubital pterygiu... OMIM:618469
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Spondylocostal Dysostosis 5
Scoliosis, Low back pain, Hemivertebrae, Vertebral fusion, Short neck, Butterfly vertebrae OMIM:122600
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Block... OMIM:613686
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... OMIM:604864
Primary Basilar Invagination
Abnormality of the cervical spine, Short neck, Abnormal vertebral morphology ORPHA:2285
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Vertebral segmentation defect OMIM:221950
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Increased b... ORPHA:2777
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Arthrogryposis multiplex congenita, Tarsal synost... OMIM:178110
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology, Restricted large joint mov... ORPHA:163665
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Vertebral segmentation defect, Sacral dimple OMIM:618845
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Brachydactyly, Type B1
Hypoplastic sacrum, Camptodactyly, Hemivertebrae, Vertebral fusion, Delayed cranial suture closur... OMIM:113000
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Short neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion OMIM:214300
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Abnormal vertebr... ORPHA:2345
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Hip dislocation, Short neck OMIM:615583
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Short Stature Due To Partial Ghr Deficiency
Delayed skeletal maturation, Hypoglycemia ORPHA:314802
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral segmentation defect, Vertebral clefting, Hemivertebrae OMIM:608681
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:606612
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Dysspondyloenchondromatosis
Scoliosis, Platyspondyly, Genu valgum, Enlarged joints, Anisospondyly, Generalized joint laxity, ... ORPHA:85198
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Beaking of vertebral bodies, Incre... OMIM:613982
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the small joints of the hand,... OMIM:601344
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Elbow dislocation, Kyphosis, Hemivertebrae, Ver... ORPHA:2916
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion, Butterfly vertebrae ORPHA:313892
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Vertebral fusion, Short neck, ... ORPHA:2332
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Elbow dislocation, Increased bone mineral density, Abnormal vertebral... ORPHA:90650
Gorlin Syndrome
Scoliosis, Vertebral wedging, Vertebral fusion, Hemivertebrae ORPHA:377
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Increased ... OMIM:312150
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Marked delay in bone age OMIM:262700
Ring Chromosome 21 Syndrome
Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Alkaptonuria
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Increased ... OMIM:253290
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Kniest Dysplasia
Platyspondyly, Arthropathy, Enlarged joints, Flexion contracture of finger, Coronal cleft vertebr... ORPHA:485
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Short neck, Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion OMIM:118100
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Spina bifida occulta, Hemivertebrae OMIM:184400
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Delayed skeletal maturation, Vertebral arch anomaly OMIM:148050
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Acetabular dysplas... OMIM:616549
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Hemivertebrae, Vertebral fusion, Spinal canal stenosis, Kyphoscoliosis, Hypopl... OMIM:263540
Aarskog-Scott Syndrome
Camptodactyly of finger, Genu recurvatum, Joint hyperflexibility, Abnormality of the cervical spi... ORPHA:915
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Short neck, Fused cervical vertebrae ORPHA:2522
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Ectopic ossification in muscle tissue, Ectopic ossifi... OMIM:135100
Caudal Regression Sequence
Scoliosis, Maternal diabetes, Joint stiffness, Abnormal vertebral segmentation and fusion, Hypopl... ORPHA:3027
Idiopathic Juvenile Osteoporosis
Osteoporosis, Kyphosis, Recurrent fractures, Bone pain, Vertebral compression fracture ORPHA:85193
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Kyphosis, Vertebral fu... OMIM:130720
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Hemivertebrae, Vertebral fusion, Block vertebrae, Short neck OMIM:271520
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Anteriorly placed odontoid process, Partial fusi... OMIM:305620
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Hyperlordosis, Limited elbow extension, Tarsal synostosis, C2-C3 subluxation, Capitate... OMIM:272460
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Synostosis of carpals/tarsals, Carpal synostosis, Fus... OMIM:157800
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Vertebral fusion, Butterfly vertebrae, Hemivertebrae OMIM:206900
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Radioulnar synostosis, Elbow dislocation, Shoulder dislocation, Genu varum, Anterior vertebral fu... OMIM:171480
Koolen-De Vries Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Vertebral fusion, Hip dislocation, Vertebral segment... ORPHA:96169
Mosaic Trisomy 20
Scoliosis, Kyphosis, Vertebral segmentation defect, Vertebral fusion, Spinal canal stenosis, Fuse... ORPHA:1724
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Short neck, Vertebral fusion, Hemivertebrae ORPHA:94095
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Dislocated radial head, Axillary pterygium, Arthrogryposis multiplex congenita, Anteri... OMIM:265000
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Osteopenia, Fused cervical vertebrae, Osteomyelitis OMIM:612852
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Kyphosis, Spondylolisthesis, Sacral dimple, Vertebral fusion, Hip... OMIM:610443
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Hemivertebrae, Vertebral fusion, Kyphoscoliosis,... OMIM:109400
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, Synostosis of carpal bo... ORPHA:90652
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Impaired T cell function, Decreased circulating IgG level, Decre... OMIM:607594
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgG level, Decreased circulating IgA level, Parti... OMIM:240500
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Genu varum, Hip dislocati... ORPHA:3320
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae OMIM:619227
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Thoracic hemivertebrae, Vertebral fusion, Delayed cranial suture c... OMIM:268310
Arnold-Chiari Malformation Type I
Scoliosis, Anteriorly placed odontoid process, Cervical C2/C3 vertebral fusion, Stiff neck, Fused... ORPHA:268882
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Dislocated radial head, Craniosynostosis, Camptodactyly of fin... ORPHA:1826
Atelosteogenesis, Type I
Coronal cleft vertebrae, Elbow dislocation, Thoracic platyspondyly, Short neck, Fused cervical ve... OMIM:108720
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Camptodactyly, Abnormal vertebral segmentation and fusion,... ORPHA:233
Simpson-Golabi-Behmel Syndrome
Scoliosis, Accelerated skeletal maturation, Camptodactyly of finger, Congenital hip dislocation, ... ORPHA:373
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae ORPHA:1780
Myhre Syndrome
Platyspondyly, Camptodactyly, Enlarged vertebral pedicles, Vertebral fusion, Joint stiffness, Sho... OMIM:139210
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:308230
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Camptodactyly, Hyperextensible hand joints OMIM:227330
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Increased circulating IgE level ORPHA:277
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect ORPHA:959
Hemifacial Microsomia
Vertebral hypoplasia, Block vertebrae, Hemivertebrae OMIM:164210
Charcot-Marie-Tooth Disease Type 4C
Vertebral fusion, Abnormality of the vertebral column, Thoracic scoliosis, Ankle flexion contracture ORPHA:99949
Aicardi Syndrome
Scoliosis, Block vertebrae, Butterfly vertebrae, Hemivertebrae OMIM:304050
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Generalized joint laxity, Thoracic kyphosis, Hypermobility of interphalan... ORPHA:508498
Aicardi Syndrome
Scoliosis, Block vertebrae, Butterfly vertebrae ORPHA:50
Robinow Syndrome
Scoliosis, Radioulnar dislocation, Fused thoracic vertebrae, Hemivertebrae, Kyphoscoliosis ORPHA:97360
Duane-Radial Ray Syndrome
Scoliosis, Fused cervical vertebrae, Spina bifida occulta OMIM:607323
Apert Syndrome
Humeroradial synostosis, Synostosis of carpal bones, Delayed cranial suture closure, Coronal cran... OMIM:101200
Wolf-Hirschhorn Syndrome
Scoliosis, Radioulnar synostosis, Abnormal form of the vertebral bodies, Abnormal sternal ossific... OMIM:194190
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect ORPHA:87
Thrombocytopenia-Absent Radius Syndrome
Carpal bone hypoplasia, Fused cervical vertebrae, Carpal synostosis, Genu varum, Patellar aplasia... OMIM:274000
Frontometaphyseal Dysplasia 2
Scoliosis, Dislocated radial head, Congenital hip dislocation, Camptodactyly, Hip contracture, Fu... OMIM:617137
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Abnormality of B cell physiology, Panhypogammaglobulinemia, Decreased lymphocyt... OMIM:600802
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, H... ORPHA:444077
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Contracture of the distal interphalangeal joint of the fingers, Fused cervical vertebrae, Cleft v... ORPHA:83617
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Lack of T cell function, Decreased lymphocyte proliferation in response t... ORPHA:35078
Wiskott-Aldrich Syndrome, Autosomal Dominant
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Abnormal ... OMIM:600903
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Abnormal hip joint morphology, Hypo... ORPHA:51608
Orotic Aciduria
Impaired T cell function OMIM:258900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level 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
Cbx5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cbx5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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