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

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 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
11 pairs of ribs, Pectus excavatum, Prominent sternum OMIM:617877
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism 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
Abnormality of the ribs ORPHA:100073
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Gastroschisis
Gastroschisis ORPHA:2368
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Gastroschisis, Spina bifida, Anencephaly ORPHA:2476
Thoraco-Abdominal Enteric Duplication
Meningocele, Dextrocardia, Abnormal tricuspid valve morphology ORPHA:1759
Craniodiaphyseal Dysplasia
Abnormality of the ribs, Craniofacial hyperostosis ORPHA:1513
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Ventricular septal defect OMIM:613751
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Abnormality of the ribs ORPHA:3268
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Myelomeningocele, Situs inversus totalis, Spina bifida occulta OMIM:613686
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Short ribs, Narrow chest OMIM:618188
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Metatropic Dysplasia
Abnormal enchondral ossification, Narrow chest, Abnormal cortical bone morphology, Long thorax, C... ORPHA:2635
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Undulate ribs, Missing ribs ORPHA:1801
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Abnormal cortical bone morpholo... ORPHA:2097
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Rib fusion OMIM:609813
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Dextrocardia, Intrauterine growth retardation, T... OMIM:270100
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis OMIM:611884
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia OMIM:615633
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia OMIM:221950
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Ciliary Dyskinesia, Primary, 25
Dextrocardia, Situs inversus totalis OMIM:615482
Catel-Manzke Syndrome
Ventricular septal defect, Umbilical hernia, Dextrocardia, Overriding aorta, Intrauterine growth ... OMIM:616145
Achondrogenesis, Type Ia
Unossified vertebral bodies, Abnormal hand bone ossification, Hypoplastic scapulae, Beaded ribs, ... OMIM:200600
Achondrogenesis Type 1B
Abnormality of the ribs, Short thorax, Abnormal enchondral ossification, Narrow chest ORPHA:93298
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Dextrocardia, Double outlet right ventricle, Mesocardia, Left atrial isom... OMIM:605376
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Decreased calvarial ossification, Pectus excavatum, Beaded ribs OMIM:259440
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis OMIM:615994
Ciliary Dyskinesia, Primary, 20
Dextrocardia, Situs inversus totalis OMIM:615067
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Situs inversus totalis OMIM:618063
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Narrow chest, Abnormal sternum morphology, Abnormalit... ORPHA:474
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Patent ductus arteriosus ORPHA:2863
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis OMIM:617577
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Narrow chest ORPHA:1354
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormality of the ribs, Decreased skull ossification, Narrow chest, Abnormal clavicle morphology ORPHA:93267
Czeizel-Losonci Syndrome
Spina bifida, Dextrocardia, Spina bifida occulta, Myelomeningocele, Hydrocephalus ORPHA:2437
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Pectus excavatum, Hypoplastic distal segments of scapulae OMIM:602196
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect ORPHA:2345
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Situs inversus totalis OMIM:614679
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Anomalous pulmonary venous return, Atrial septal defect, Abnormal aortic valve morp... ORPHA:1120
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Abnormal tricuspid valve morphology, Mitral atresia... OMIM:616749
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Thin ribs, Hyperostosis, Asymmetry of the thorax OMIM:604922
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Poland Syndrome
Dextrocardia OMIM:173800
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Irregular chondrocostal junctions, Horizontal ribs, Short ribs OMIM:187760
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Abnormal cardiac septum morphology OMIM:614294
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Situs inversus totalis OMIM:616037
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Ciliary Dyskinesia, Primary, 2
Dextrocardia, Situs inversus totalis OMIM:606763
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:276422
Autosomal Dominant Spondylocostal Dysostosis
Abnormality of the ribs, Short thorax, Posterior rib fusion, Missing ribs ORPHA:1797
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of the ribs, Decreased calvarial ossification ORPHA:2772
Nestor-Guillermo Progeria Syndrome
Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Osteolysis, Progressive cla... OMIM:614008
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the ribs, Abnormal cortical bone morphology ORPHA:1486
Iniencephaly
Spina bifida, Holoprosencephaly, Spinal dysraphism, Omphalocele, Anencephaly, Gastroschisis, Myel... ORPHA:63259
Hypophosphatasia
Abnormality of the ribs, Craniosynostosis, Narrow chest ORPHA:436
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the ribs, Osteoporosis, Pectus carinatum ORPHA:93351
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Beaded ribs OMIM:616229
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... OMIM:618280
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis OMIM:613095
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Mosaic Trisomy 14
Abnormality of the ribs, Narrow chest ORPHA:1703
Mosaic Trisomy 9
Spina bifida, Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, E... ORPHA:99776
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs ORPHA:1506
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Schisis Association
Spina bifida, Anencephaly ORPHA:63862
Cooper-Jabs Syndrome
Abnormality of the ribs, Reduced bone mineral density, Missing ribs ORPHA:1488
Melnick-Needles Syndrome
Short thorax, Narrow chest, Craniofacial hyperostosis, Abnormal cortical bone morphology, Short c... ORPHA:2484
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Colonic Atresia
Gastroschisis, Omphalocele ORPHA:1198
Secondary Short Bowel Syndrome
Gastroschisis, Failure to thrive, Weight loss ORPHA:95427
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the ribs, Craniosynostosis ORPHA:2145
Gm1 Gangliosidosis
Weight loss, Gastroschisis, Inguinal hernia, Failure to thrive, Aplasia/Hypoplasia of the abdomin... ORPHA:354
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:97330
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Complete a... OMIM:264480
Limb Body Wall Complex
Spina bifida, Atrial septal defect, Short umbilical cord, Abnormal heart morphology, Ventricular ... ORPHA:2369
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Dextrocardia
Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal heart morphology ORPHA:1666
Cat-Eye Syndrome
Abnormality of the ribs ORPHA:195
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Ectopia cordis, Hydrocephalus, Transposition of the great ... OMIM:313850
Pyknoachondrogenesis
Short thorax, Enlarged thorax, Poorly ossified vertebrae, Craniofacial hyperostosis, Horizontal r... ORPHA:3003
Diastrophic Dwarfism
Abnormality of the ribs, Increased bone mineral density, Abnormal clavicle morphology ORPHA:628
Cerebrocostomandibular Syndrome
Spina bifida, Ventricular septal defect, Meningocele, Hydranencephaly, Intrauterine growth retard... ORPHA:1393
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormality of the ribs OMIM:300864
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Congenital Disorder Of Glycosylation, Type Iig
Abnormality of the ribs, Osteopenia OMIM:611209
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ribs, Pectus excavatum, Abnormal clavicle morphology ORPHA:2522
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs ORPHA:2643
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Atrial septal defect, Abnormal aortic valve morphology, Abnormal heart morphology ORPHA:261197
White Forelock With Malformations
Abnormality of the ribs, Sprengel anomaly ORPHA:2475
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Necrotizing Enterocolitis
Gastroschisis, Small for gestational age ORPHA:391673
Marden-Walker Syndrome
Intrauterine growth retardation, Dextrocardia OMIM:248700
Renpenning Syndrome
Abnormality of the ribs, Pectus excavatum, Sprengel anomaly ORPHA:3242
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Fibrochondrogenesis
Broad ribs, Narrow chest, Hypoplastic scapulae, Bell-shaped thorax, Short ribs, Abnormality of th... ORPHA:2021
Primary Pulmonary Hypoplasia
Intrauterine growth retardation, Secundum atrial septal defect, Dextrocardia ORPHA:2257
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormality of the ribs, Craniofacial hyperostosis, Pectus carinatum ORPHA:3068
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Abnormality of the ribs ORPHA:2578
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia OMIM:618929
Scimitar Syndrome
Anomalous pulmonary venous return, Tricuspid atresia, Truncus arteriosus, Single ventricle, Atria... ORPHA:185
Johanson-Blizzard Syndrome
Intrauterine growth retardation, Dextrocardia, Abnormal cardiac septum morphology ORPHA:2315
Femoral-Facial Syndrome
Abnormality of the ribs, Sprengel anomaly, Rib fusion ORPHA:1988
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly ORPHA:2211
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae ORPHA:3035
Joubert Syndrome With Ocular Defect
Dextrocardia, Hydrocephalus ORPHA:220493
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormality of the ribs, Abnormal sternum morphology, Broad ribs, Short ribs ORPHA:2519
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Distal Trisomy 5Q
Dextrocardia, Ventricular septal defect ORPHA:96097
Holt-Oram Syndrome
Abnormal clavicle morphology, Pectus excavatum, Sprengel anomaly, Down-sloping shoulders, Abnorma... ORPHA:392
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Cortical irregularity, Osteolysis, Patchy reduction of bone mineral... ORPHA:249
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly OMIM:601076
Septopreoptic Holoprosencephaly
Abnormality of the ribs ORPHA:280195
Ellis Van Creveld Syndrome
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Abnormal heart valve mor... ORPHA:289
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of the ribs, Sprengel anomaly ORPHA:2180
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the ribs, Missing ribs ORPHA:2759
Campomelia, Cumming Type
Abnormality of the ribs, Abnormally ossified vertebrae, Abnormal thorax morphology ORPHA:1318
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Tetralogy of Fallot, Abnormal heart morphology ORPHA:96092
Mucopolysaccharidosis Type 4
Abnormality of the ribs, Reduced bone mineral density, Short thorax, Pectus carinatum ORPHA:582
Holzgreve Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae ORPHA:2167
Mesomelic Dysplasia, Kantaputra Type
Abnormality of the ribs ORPHA:1836
Microcephaly-Micromelia Syndrome
Abnormality of the ribs, Craniosynostosis, Narrow chest OMIM:251230
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormality of the ribs, Pectus carinatum ORPHA:3082
Pagod Syndrome
Meningocele, Spina bifida, Situs inversus totalis, Hypoplastic left heart ORPHA:991
Marden-Walker Syndrome
Situs inversus totalis, Ventricular septal defect, Abnormal anatomic location of the heart, Dextr... ORPHA:2461
Cleidocranial Dysplasia
Osteoporosis, Narrow chest, Hypoplastic scapulae, Down-sloping shoulders, Short clavicles, Decrea... ORPHA:1452
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the ribs ORPHA:2234
Constricting Bands, Congenital
Gastroschisis, Omphalocele, Bladder exstrophy OMIM:217100
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae, Missing ribs ORPHA:3301
Acrofacial Dysostosis 1, Nager Type
Gastroschisis, Hydrocephalus, Aqueductal stenosis OMIM:154400
Craniofaciofrontodigital Syndrome
Abnormality of the ribs, Abnormal shoulder morphology, Narrow chest ORPHA:363705
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs ORPHA:93941
Antley-Bixler Syndrome
Abnormality of the ribs, Craniosynostosis, Narrow chest ORPHA:83
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ribs, Rib fusion, Short thorax, Rib segmentation abnormalities ORPHA:2311
Knobloch Syndrome
Dextrocardia, Patent ductus arteriosus, Hydrocephalus ORPHA:1571
Trisomy 18
Spina bifida, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Anencephaly, In... ORPHA:3380
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Trisomy 13
Abnormality of the ribs, Narrow chest ORPHA:3378
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Patent foramen ovale, Stillbirth, Ventricular septal defect, ... OMIM:256520
Familial Osteodysplasia, Anderson Type
Abnormality of the ribs, Aplastic clavicle, Missing ribs, Abnormal cortical bone morphology ORPHA:2769
Focal Dermal Hypoplasia
Spina bifida, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Abnormal car... ORPHA:2092
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Umbilical hernia OMIM:136140
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the ribs, Sprengel anomaly OMIM:118100
Prune Belly Syndrome
Abnormality of the ribs, Pectus excavatum ORPHA:2970
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Umbilical hernia, Bicuspid aortic valve ORPHA:536545
Juberg-Hayward Syndrome
Abnormality of the ribs ORPHA:2319
Restrictive Dermopathy
Atrial septal defect, Short umbilical cord, Large placenta, Patent ductus arteriosus, Dextrocardi... ORPHA:1662
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Basal Cell Nevus Syndrome
Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Hydrocephalus OMIM:109400
Carpenter Syndrome 2
Atrial septal defect, Situs inversus totalis, Patent ductus arteriosus, Umbilical hernia, Dextroc... OMIM:614976
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus ORPHA:3412
Oculocerebrocutaneous Syndrome
Abnormality of the ribs, Missing ribs ORPHA:1647
22Q11.2 Deletion Syndrome
Spina bifida, Tricuspid atresia, Truncus arteriosus, Atrial septal defect, Ventricular septal def... ORPHA:567
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular septal de... ORPHA:508498
Poland Syndrome
Pectus carinatum, Abnormal sternum morphology, Sprengel anomaly, Short ribs, Reduced bone mineral... ORPHA:2911
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Axial Mesodermal Dysplasia Spectrum
Abnormality of the ribs, Missing ribs ORPHA:1834
Tetrasomy 9P
Pericarditis, Patent foramen ovale, Abnormal mitral valve morphology, Umbilical hernia, Dextrocar... ORPHA:3310
Cartilage-Hair Hypoplasia
Short thorax, Abnormal bone ossification, Narrow chest, Pectus carinatum, Abnormally ossified ver... ORPHA:175
Fanconi Anemia
Spina bifida, Atrial septal defect, Abnormal aortic valve morphology, Patent ductus arteriosus, U... ORPHA:84
Trisomy 1Q
Abnormality of the ribs, Short thorax ORPHA:261344
Microphthalmia, Syndromic 2
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Dext... OMIM:300166
Microcephaly, Short Stature, And Limb Abnormalities
Abnormality of the ribs OMIM:617604
Thrombocytopenia-Absent Radius Syndrome
Spina bifida, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:274000
Tetraamelia Syndrome 1
Gastroschisis, Hydrocephalus OMIM:273395
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Jacobsen Syndrome
Spina bifida, Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Intrauter... ORPHA:2308
Smith-Lemli-Opitz Syndrome
Gastroschisis, Holoprosencephaly ORPHA:818
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Camptodactyly Syndrome, Guadalajara Type 3
Abnormality of the ribs, Osteopenia, Thickened cortex of long bones ORPHA:488434
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Aspergillosis
Abnormality of the ribs ORPHA:1163
Phaver Syndrome
Abnormality of the ribs ORPHA:2876
Multiple Pterygium-Malignant Hyperthermia Syndrome
Abnormality of the ribs, Pectus excavatum ORPHA:2215
Otopalatodigital Syndrome Type 2
Abnormality of the ribs, Narrow chest, Increased bone mineral density ORPHA:90652
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Pulmoni... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Pulmoni... ORPHA:363958
Schwartz-Jampel Syndrome
Osteoporosis, Pectus carinatum, Pectus excavatum, Sprengel anomaly, Increased bone mineral densit... ORPHA:800
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Abnormality of the ribs, Unilateral chest hypoplasia OMIM:308205
Nail-Patella Syndrome
Spina bifida OMIM:161200
Cenani-Lenz Syndrome
Abnormality of the ribs ORPHA:3258
Hypoglossia-Hypodactyly Syndrome
Gastroschisis ORPHA:989
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Vater/Vacterl Association
Spina bifida, Ventricular septal defect, Patent ductus arteriosus, Patent urachus, Intrauterine g... OMIM:192350
Duplication Of Urethra
Gastroschisis, Chordee ORPHA:237
Osteogenesis Imperfecta
Osteoporosis, Narrow chest, Pectus carinatum, Thoracic hypoplasia, Pectus excavatum, Abnormal cor... ORPHA:666
Cole-Carpenter Syndrome
Abnormality of the ribs ORPHA:2050
Alagille Syndrome
Abnormality of the ribs ORPHA:52
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormality of the ribs, Abnormal scapula morphology, Narrow chest ORPHA:93317
Mosaic Trisomy 8
Abnormality of the ribs, Narrow chest ORPHA:96061
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of the ribs ORPHA:85167
Vacterl/Vater Association
Abnormality of the ribs ORPHA:887
Mucopolysaccharidosis Type 3
Abnormality of the ribs, Reduced bone mineral density, Craniofacial hyperostosis, Abnormal clavic... ORPHA:581
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Narrow chest, Osteopetrosis, Reduced bone mineral density, Abnormality of the ribs ORPHA:667
Semilobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect ORPHA:93924
Schinzel-Giedion Syndrome
Abnormal heart morphology, Umbilical hernia, Neural tube defect ORPHA:798
Myhre Syndrome
Abnormality of the ribs, Craniofacial hyperostosis ORPHA:2588
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus, Abnormal heart morphology ORPHA:322
Aicardi Syndrome
Spina bifida OMIM:304050
Floating-Harbor Syndrome
Tetralogy of Fallot, Atrial septal defect, Mesocardia ORPHA:2044
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormality of the ribs ORPHA:1300
Hurler Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:93473
Ear-Patella-Short Stature Syndrome
Abnormality of the ribs, Aplastic clavicle, Craniosynostosis ORPHA:2554
Monosomy 9Q22.3
Abnormality of the ribs, Pectus excavatum ORPHA:77301
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormality of the ribs, Hypoplastic scapulae, Craniosynostosis, Narrow chest ORPHA:95699
Radio-Renal Syndrome
Abnormality of the ribs ORPHA:3015
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Pectus excavatum, Prominent sternum OMIM:617877
Hereditary Acrokeratotic Poikiloderma
Abnormality of the ribs ORPHA:2907
Oculocerebrorenal Syndrome Of Lowe
Abnormality of the ribs, Osteomalacia ORPHA:534
Charge Syndrome
Abnormality of the ribs, Abnormality of bone mineral density ORPHA:138
Simpson-Golabi-Behmel Syndrome
Abnormality of the ribs, Pectus excavatum ORPHA:373
Monosomy 9P
Abnormality of the ribs ORPHA:261112
Split Cord Malformation
Cervical spina bifida, Meningocele, Lipomyelomeningocele, Myelomeningocele, Hydrocephalus ORPHA:573278
Ulbright-Hodes Syndrome
Abnormality of the ribs, Thin ribs, Short sternum, Short ribs ORPHA:3404
Kindler Epidermolysis Bullosa
Abnormality of the ribs ORPHA:2908
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism OMIM:235200
Alagille Syndrome 1
Abnormality of the ribs OMIM:118450
Charge Syndrome
Abnormality of the ribs, Down-sloping shoulders OMIM:214800
Townes-Brocks Syndrome
Abnormality of the ribs ORPHA:857
20P12.3 Microdeletion Syndrome
Pectus carinatum ORPHA:261295
Brachydactyly, Type A2
OMIM:112600
Brachydactyly Type A2
ORPHA:93396

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, Targeting vectors, ES Cells
Bmp2tm48460(L1L2_Bact_P) Targeting vectors
Bmp2tm373738(L1L2_Bact_P) Targeting vectors

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