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Gene: Bmp2 MGI:88177

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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:
bone morphogenetic protein 2
Synonyms:
Bmp2a

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 Bmp2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Bmp2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Spina bifida occulta, Transposition of the great arteries, Perimembranous vent... OMIM:617877
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Azoospermia OMIM:235200
20P12.3 Microdeletion Syndrome
Pectus carinatum ORPHA:261295
Brachydactyly, Type A2
OMIM:112600
Brachydactyly Type A2
ORPHA:93396

The table below shows human diseases predicted to be associated to Bmp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal rib morphology, Generalized osteosclerosis, Abnormal cortical bone... ORPHA:2790
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Gastroschisis
Gastroschisis ORPHA:2368
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Gastroschisis ORPHA:2476
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Abnormal tricuspid valve morphology, Meningocele ORPHA:1759
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Craniofacial hyperostosis ORPHA:1513
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Pectus carinatum ORPHA:3268
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Spina bifida occulta, Myelomeningocele OMIM:613686
Hyperparathyroidism, Transient Neonatal
Narrow chest, Osteopenia, Thin ribs, Short ribs OMIM:618188
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect OMIM:606217
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs OMIM:617405
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Anterior rib cupping, Short thorax, Missing ribs, Lateral clavicle hook ORPHA:1801
Metatropic Dysplasia
Narrow chest, Coarse metaphyseal trabecularization, Long thorax, Abnormal rib morphology, Abnorma... ORPHA:2635
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Grant Syndrome
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Abnormal rib morphology, Abnorm... ORPHA:2097
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Lateral clavicle hook OMIM:615633
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion, Supernumerary vertebral ossification centers OMIM:609813
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia OMIM:221950
Catel-Manzke Syndrome
Ventricular septal defect, Dextrocardia, Umbilical hernia, Overriding aorta, Intrauterine growth ... OMIM:616145
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology ORPHA:93298
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Pectus excavatum, Beaded ribs, Pectus carinatum OMIM:259440
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... OMIM:605376
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia OMIM:615067
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal rib morphology ORPHA:1354
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia OMIM:618063
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Patent ductus arteriosus ORPHA:2863
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... ORPHA:1120
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum OMIM:602196
Jeune Syndrome
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormal rib morphology,... ORPHA:474
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Dextrocardia, Spina bifida ORPHA:2437
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Decreased skull ossification, Abnormal rib morphology ORPHA:93267
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia OMIM:617577
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... OMIM:613751
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Hyperostosis, Thin ribs OMIM:604922
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Ectopia cordis, Patent ductus arteriosus, Transposition of the great ... OMIM:313850
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Abnormal... OMIM:616749
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Horizontal ribs, Bell-shaped thorax, Short ribs OMIM:187760
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
Schisis Association
Encephalocele, Spina bifida, Anencephaly ORPHA:63862
Achondrogenesis, Type Ia
Narrow chest, Short clavicles, Short ribs, Barrel-shaped chest, Broad clavicles, Bell-shaped thor... OMIM:200600
Iniencephaly
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Omphalocele, ... ORPHA:63259
Poland Syndrome
Dextrocardia OMIM:173800
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Ventricular septal def... OMIM:264480
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia OMIM:616037
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Decreased calvarial ossification ORPHA:2772
Autosomal Dominant Spondylocostal Dysostosis
Abnormal rib morphology, Posterior rib fusion, Short thorax, Missing ribs ORPHA:1797
Cardiac Diverticulum
Tricuspid atresia, Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Aortic valve ste... ORPHA:1686
Lethal Congenital Contracture Syndrome Type 1
Abnormal rib morphology, Abnormal cortical bone morphology ORPHA:1486
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia OMIM:606763
Hypophosphatasia
Narrow chest, Abnormal rib morphology, Craniosynostosis ORPHA:436
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double out... OMIM:306955
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:619607
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy OMIM:207950
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Mosaic Trisomy 14
Narrow chest, Abnormal rib morphology ORPHA:1703
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal rib morphology, Osteoporosis, Pectus carinatum ORPHA:93351
Mosaic Trisomy 9
Atrial septal defect, Endocardial fibroelastosis, Ventricular septal defect, Dextrocardia, Patent... ORPHA:99776
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Constricting Bands, Congenital
Encephalocele, Gastroschisis, Bladder exstrophy, Omphalocele OMIM:217100
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Joubert Syndrome With Ocular Defect
Dextrocardia, Encephalocele, Hydrocephalus ORPHA:220493
Melnick-Needles Syndrome
Narrow chest, Short clavicles, Osteolytic defects of the phalanges of the hand, Abnormal rib morp... ORPHA:2484
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia OMIM:615444
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Atrial septal defect, Short umbilical cord, Anencephaly, Spina b... ORPHA:2369
Cooper-Jabs Syndrome
Abnormal rib morphology, Missing ribs, Reduced bone mineral density ORPHA:1488
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss, Gastroschisis ORPHA:95427
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Gm1 Gangliosidosis
Failure to thrive, Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Weight ... ORPHA:354
Colonic Atresia
Gastroschisis, Omphalocele ORPHA:1198
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation ORPHA:1327
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Pulmonic ... OMIM:619657
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Double inlet right ventricle, Atrial septal defect, Hypoplastic le... OMIM:619702
Diastrophic Dysplasia
Abnormal rib morphology, Abnormal clavicle morphology, Increased bone mineral density ORPHA:628
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tetralogy of Fallot, Ventricular ... OMIM:618280
Dextrocardia
Situs inversus totalis, Dextrocardia, Hydrocephalus, Abnormal heart morphology ORPHA:1666
Cerebrocostomandibular Syndrome
Myelomeningocele, Hydranencephaly, Ventricular septal defect, Meningocele, Spina bifida, Intraute... ORPHA:1393
Primary Pulmonary Hypoplasia
Dextrocardia, Secundum atrial septal defect, Intrauterine growth retardation ORPHA:2257
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Congenital Disorder Of Glycosylation, Type Iig
Abnormal rib morphology, Osteopenia OMIM:611209
Scimitar Syndrome
Tricuspid atresia, Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septa... ORPHA:185
Knobloch Syndrome
Dextrocardia, Occipital encephalocele, Hydrocephalus, Patent ductus arteriosus ORPHA:1571
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Pyknoachondrogenesis
Sclerosis of skull base, Enlarged thorax, Short ribs, Poorly ossified vertebrae, Horizontal ribs,... ORPHA:3003
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele ORPHA:2211
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Pectus excavatum, Abnormal rib morphology ORPHA:2522
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Renpenning Syndrome
Sprengel anomaly, Pectus excavatum, Abnormal rib morphology ORPHA:3242
White Forelock With Malformations
Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Necrotizing Enterocolitis
Gastroschisis, Small for gestational age ORPHA:391673
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Atrial septal defect, Abnormal aortic valve morphology, Abnormal heart morphology ORPHA:261197
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal rib morphology, Craniofacial hyperostosis, Pectus carinatum ORPHA:3068
Marden-Walker Syndrome
Dextrocardia, Intrauterine growth retardation OMIM:248700
Fibrochondrogenesis
Narrow chest, Short ribs, Bell-shaped thorax, Abnormal rib morphology, Hypoplastic scapulae, Broa... ORPHA:2021
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Atrioventricular canal defect OMIM:618929
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology ORPHA:2578
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Johanson-Blizzard Syndrome
Dextrocardia, Abnormal cardiac septum morphology, Intrauterine growth retardation ORPHA:2315
Holt-Oram Syndrome
Sprengel anomaly, Abnormal clavicle morphology, Pectus excavatum, Down-sloping shoulders, Abnorma... ORPHA:392
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal rib morphology, Abnormally ossified vertebrae ORPHA:3035
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia OMIM:613095
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs ORPHA:2519
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Abnormal rib morphology ORPHA:1988
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia, Coronary artery fist... OMIM:614294
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Septopreoptic Holoprosencephaly
Abnormal rib morphology ORPHA:280195
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology OMIM:601076
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Missing ribs ORPHA:2759
Pagod Syndrome
Hypoplastic left heart, Situs inversus totalis, Meningocele, Encephalocele, Spina bifida ORPHA:991
Mucopolysaccharidosis Type 4
Abnormal rib morphology, Short thorax, Pectus carinatum, Reduced bone mineral density ORPHA:582
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Fibrous dysplasia of the bones, Osteomalacia, Thin bony cortex, Abn... ORPHA:249
Ellis Van Creveld Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Situs inversus to... ORPHA:289
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Abnormal rib morphology ORPHA:2180
Campomelia, Cumming Type
Abnormal rib morphology, Abnormal thorax morphology, Abnormally ossified vertebrae ORPHA:1318
Distal Trisomy 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Holzgreve Syndrome
Abnormal rib morphology, Abnormally ossified vertebrae ORPHA:2167
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal rib morphology, Pectus carinatum ORPHA:3082
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Tetralogy of Fallot, Abnormal heart morphology ORPHA:96092
Autosomal Recessive Spondylocostal Dysostosis
Abnormal rib morphology, Rib fusion, Short thorax, Rib segmentation abnormalities ORPHA:2311
Microcephaly-Micromelia Syndrome
Narrow chest, Abnormal rib morphology, Craniosynostosis OMIM:251230
Mesomelic Dysplasia, Kantaputra Type
Abnormal rib morphology ORPHA:1836
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology ORPHA:2234
Cleidocranial Dysplasia
Narrow chest, Short clavicles, Down-sloping shoulders, Osteoporosis, Abnormal rib morphology, Hyp... ORPHA:1452
Antley-Bixler Syndrome
Narrow chest, Abnormal rib morphology, Craniosynostosis ORPHA:83
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis, Gastroschisis OMIM:154400
Marden-Walker Syndrome
Hydrocephalus, Abnormal anatomic location of the heart, Ventricular septal defect, Dextrocardia, ... ORPHA:2461
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Missing ribs, Abnormally ossified vertebrae ORPHA:3301
Trisomy 18
Atrial septal defect, Holoprosencephaly, Anencephaly, Ventricular septal defect, Spina bifida, In... ORPHA:3380
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology ORPHA:93941
Neu-Laxova Syndrome 1
Intrauterine growth retardation, Short umbilical cord, Hydranencephaly, Ventricular septal defect... OMIM:256520
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Ventricular septal defect, Patent ductus arteriosus, Umbilica... ORPHA:2092
Trisomy 13
Narrow chest, Abnormal rib morphology ORPHA:3378
Prune Belly Syndrome
Abnormal rib morphology, Pectus excavatum ORPHA:2970
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Abnormal rib morphology OMIM:118100
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Abnormal cortical bone morphology, Missing ribs, Abnormal rib morphology ORPHA:2769
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Juberg-Hayward Syndrome
Abnormal rib morphology ORPHA:2319
Neu-Laxova Syndrome 2
Spina bifida, Intrauterine growth retardation OMIM:616038
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Bicuspid aortic valve, Umbilical hernia ORPHA:536545
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation ORPHA:3412
Basal Cell Nevus Syndrome
Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Hydrocephalus OMIM:109400
22Q11.2 Deletion Syndrome
Tricuspid atresia, Abnormal pulmonary valve morphology, Hydrocephalus, Atrial septal defect, Abno... ORPHA:567
Restrictive Dermopathy
Atrial septal defect, Short umbilical cord, Small placenta, Dextrocardia, Patent ductus arteriosu... ORPHA:1662
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal def... ORPHA:508498
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Missing ribs ORPHA:1647
Poland Syndrome
Dextrocardia, Encephalocele, Atrial septal defect, Spina bifida occulta ORPHA:2911
Microphthalmia, Syndromic 2
Double outlet right ventricle, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Ve... OMIM:300166
Cartilage-Hair Hypoplasia
Narrow chest, Abnormal bone ossification, Abnormally ossified vertebrae, Pectus carinatum, Abnorm... ORPHA:175
Axial Mesodermal Dysplasia Spectrum
Abnormal rib morphology, Missing ribs ORPHA:1834
Trisomy 1Q
Abnormal rib morphology, Short thorax ORPHA:261344
Microcephaly, Short Stature, And Limb Abnormalities
Abnormal rib morphology OMIM:617604
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Fanconi Anemia
Abnormal cardiac septum morphology, Hydrocephalus, Atrial septal defect, Abnormal aortic valve mo... ORPHA:84
Tetrasomy 9P
Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Hydrocephalus, Dextrocardia... ORPHA:3310
Smith-Lemli-Opitz Syndrome
Gastroschisis, Holoprosencephaly ORPHA:818
Camptodactyly Syndrome, Guadalajara Type 3
Abnormal rib morphology, Osteopenia, Thickened cortex of long bones ORPHA:488434
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Ventricular septal defect, Spina bifida, Intrauter... ORPHA:2308
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal defe... OMIM:274000
Aspergillosis
Abnormal rib morphology ORPHA:1163
Tetraamelia Syndrome 1
Hydrocephalus, Gastroschisis OMIM:273395
Neu-Laxova Syndrome
Spina bifida, Intrauterine growth retardation ORPHA:2671
Vater/Vacterl Association
Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Patent ductus ar... OMIM:192350
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Abnormal rib morphology, Unilateral chest hypoplasia OMIM:308205
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Patent ductus arteriosus, Atrioventricular canal defect OMIM:619480
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Duplication Of Urethra
Chordee, Gastroschisis ORPHA:237
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Nail-Patella Syndrome
Spina bifida OMIM:161200
Multiple Pterygium-Malignant Hyperthermia Syndrome
Abnormal rib morphology, Pectus excavatum ORPHA:2215
Cenani-Lenz Syndrome
Abnormal rib morphology ORPHA:3258
Phaver Syndrome
Abnormal rib morphology ORPHA:2876
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Secundum atrial septal defect, Primum atrial septal defect, Aqueductal stenosis, A... OMIM:619534
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Ventricular septal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Pulmonic stenosis, Ventricular septal... ORPHA:363958
Schwartz-Jampel Syndrome
Sprengel anomaly, Pectus excavatum, Increased bone mineral density, Abnormally ossified vertebrae... ORPHA:800
Otopalatodigital Syndrome Type 2
Narrow chest, Increased bone mineral density, Abnormal rib morphology ORPHA:90652
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Campomelic Dysplasia
Spinal dysraphism, Spina bifida, Hydrocephalus, Abnormal heart morphology OMIM:114290
Floating-Harbor Syndrome
Mesocardia, Umbilical hernia, Atrial septal defect OMIM:136140
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Reduced bone mineral density, Osteopetrosis, Craniosynostosis, Abnormal rib morphology ORPHA:667
Carpenter Syndrome 2
Atrial septal defect, Situs inversus totalis, Dextrocardia, Patent ductus arteriosus, Transpositi... OMIM:614976
Rubinstein-Taybi Syndrome 1
Atrial septal defect, Hypoplastic left heart, Spina bifida occulta, Ventricular septal defect, Mi... OMIM:180849
Hypoglossia-Hypodactyly Syndrome
Gastroschisis ORPHA:989
Osteogenesis Imperfecta
Narrow chest, Pectus excavatum, Thin ribs, Multiple rib fractures, Osteopenia, Osteoporosis, Pect... ORPHA:666
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Cole-Carpenter Syndrome
Abnormal rib morphology ORPHA:2050
Alagille Syndrome
Abnormal rib morphology ORPHA:52
Mucopolysaccharidosis Type 3
Abnormal rib morphology, Abnormal clavicle morphology, Craniofacial hyperostosis, Reduced bone mi... ORPHA:581
Mosaic Trisomy 8
Narrow chest, Abnormal rib morphology ORPHA:96061
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal scapula morphology, Narrow chest, Abnormal rib morphology ORPHA:93317
Vacterl/Vater Association
Abnormal rib morphology ORPHA:887
Myhre Syndrome
Abnormal rib morphology, Craniofacial hyperostosis ORPHA:2588
Hurler Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:93473
Neurofibromatosis, Type I
Hydrocephalus, Spina bifida, Aqueductal stenosis OMIM:162200
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Aicardi Syndrome
Spina bifida OMIM:304050
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology ORPHA:1300
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Abnormal rib morphology, Craniosynostosis ORPHA:2554
Floating-Harbor Syndrome
Mesocardia, Tetralogy of Fallot, Atrial septal defect ORPHA:2044
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Narrow chest, Hypoplastic scapulae, Abnormal rib morphology, Craniosynostosis ORPHA:95699
Monosomy 9Q22.3
Abnormal rib morphology, Pectus excavatum ORPHA:77301
Radio-Renal Syndrome
Abnormal rib morphology ORPHA:3015
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Spina bifida occulta, Transposition of the great arteries, Perimembranous vent... OMIM:617877
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Oculocerebrorenal Syndrome Of Lowe
Abnormal rib morphology, Osteomalacia ORPHA:534
Split Cord Malformation
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Meningocele, Lipomyelomeningocele ORPHA:573278
Charge Syndrome
Abnormal rib morphology, Abnormality of bone mineral density ORPHA:138
Simpson-Golabi-Behmel Syndrome
Abnormal rib morphology, Pectus excavatum ORPHA:373
Monosomy 9P
Abnormal rib morphology ORPHA:261112
Ulbright-Hodes Syndrome
Abnormal rib morphology, Short sternum, Thin ribs, Short ribs ORPHA:3404
Kindler Epidermolysis Bullosa
Abnormal rib morphology ORPHA:2908
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Azoospermia OMIM:235200
Alagille Syndrome 1
Abnormal rib morphology OMIM:118450
Charge Syndrome
Abnormal rib morphology, Down-sloping shoulders OMIM:214800
Townes-Brocks Syndrome
Abnormal rib morphology ORPHA:857
20P12.3 Microdeletion Syndrome
Pectus carinatum ORPHA:261295
Brachydactyly Type A2
ORPHA:93396
Brachydactyly, Type A2
OMIM:112600

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 Bmp2

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 Bmp2.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Reactivation of a developmental Bmp2 signaling center is required for therapeutic control of the murine periosteal niche. eLife (February 2019) Bmp2tm1(KOMP)Vlcg PMC6386520
The Role of Bmp2 in the Maturation and Maintenance of the Murine Knee Joint. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (June 2018) Bmp2tm1(KOMP)Vlcg 29665134
Bone Morphogenetic Protein 2 Coordinates Early Tooth Mineralization. Journal of dental research (February 2018) Bmp2tm1(KOMP)Vlcg 29489425
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. American journal of human genetics (November 2017) Bmp2tm1(KOMP)Vlcg PMC5812889

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MGI Allele Allele Type Produced
Bmp2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Bmp2tm373738(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Bmp2tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Bmp2tm48460(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Bmp2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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