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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
Osteopenia, Prominent sternum, 11 pairs of ribs, Pectus excavatum OMIM:617877
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Amenorrhea 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
Abdominal wall defect, Gastroschisis OMIM:230750
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morphology, Clavicular sclero... ORPHA:2790
Gastroschisis
Gastroschisis ORPHA:2368
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Gastroschisis, Spina bifida ORPHA:2476
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology ORPHA:1513
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Pectus carinatum ORPHA:3268
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs OMIM:617405
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Joubert Syndrome 15
Exencephaly OMIM:614464
Grant Syndrome
Abnormal rib morphology, Decreased skull ossification, Narrow chest, Sprengel anomaly, Abnormal c... ORPHA:2097
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Metatropic Dysplasia
Abnormal enchondral ossification, Abnormal rib morphology, Long thorax, Narrow chest, Abnormal co... ORPHA:2635
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Narrow chest ORPHA:1801
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs OMIM:615633
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... OMIM:614779
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion, Supernumerary vertebral ossification centers OMIM:609813
Osteogenesis Imperfecta, Type Ix
Pectus excavatum, Decreased calvarial ossification, Pectus carinatum, Beaded ribs OMIM:259440
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Achondrogenesis Type 1B
Short thorax, Abnormal rib morphology, Narrow chest, Abnormal enchondral ossification ORPHA:93298
Heart Defects-Limb Shortening Syndrome
Abnormal rib morphology, Narrow chest ORPHA:1354
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... ORPHA:1120
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Decreased skull ossification, Abnormal rib morphology, Narrow chest ORPHA:93267
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, Dextrocardia ORPHA:2863
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia OMIM:617577
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Situs inversus totalis, Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:613686
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia OMIM:618063
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Short ribs, Horizontal ribs, Irregular chondrocostal junctions OMIM:187760
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Thoracoabdominal Syndrome
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great arteries, Ectopi... OMIM:313850
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Iniencephaly
Encephalocele, Omphalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dy... ORPHA:63259
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Broad clavicles, Abnormal hand bone ossif... OMIM:200600
Poland Syndrome
Dextrocardia OMIM:173800
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Cardiac Diverticulum
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... ORPHA:1686
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... OMIM:264480
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Posterior rib fusion, Abnormal rib morphology, Missing ribs ORPHA:1797
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Abnormal rib morphology ORPHA:2772
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal rib morphology ORPHA:1486
Hypophosphatasia
Abnormal rib morphology, Narrow chest, Craniosynostosis ORPHA:436
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Hydrocephalus, Transposition of the great arteries, Neonatal death, Atrioventricula... OMIM:314390
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia OMIM:606763
Triploidy
Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly, Intrauterine g... ORPHA:3376
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Craniorachischisis
Omphalocele, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Mosaic Trisomy 14
Abnormal rib morphology, Narrow chest ORPHA:1703
Wildervanck Syndrome
Meningocele ORPHA:3456
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:619607
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal rib morphology, Osteoporosis, Pectus carinatum ORPHA:93351
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Humero-Radial Synostosis
Meningocele ORPHA:3265
Constricting Bands, Congenital
Encephalocele, Bladder exstrophy, Omphalocele, Gastroschisis OMIM:217100
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Patent du... ORPHA:99776
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Cooper-Jabs Syndrome
Abnormal rib morphology, Missing ribs, Reduced bone mineral density ORPHA:1488
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia OMIM:615444
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short thorax, Abnormal rib morphology, Osteolytic defects of the phala... ORPHA:2484
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Dextrocardia ORPHA:220493
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... OMIM:608978
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occulta, Intrauter... ORPHA:2311
Secondary Short Bowel Syndrome
Failure to thrive, Gastroschisis, Weight loss ORPHA:95427
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... OMIM:618280
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Scimitar Syndrome
Ventricular septal defect, Dextrocardia, Mitral atresia, Patent ductus arteriosus, Partial anomal... ORPHA:185
Gm1 Gangliosidosis
Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Weight loss, Gastroschisis... ORPHA:354
Colonic Atresia
Omphalocele, Gastroschisis ORPHA:1198
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intraute... ORPHA:1393
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect OMIM:614424
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Intrauterine growth retardation, Dextrocardia ORPHA:2257
Diastrophic Dysplasia
Abnormal clavicle morphology, Increased bone mineral density, Abnormal rib morphology ORPHA:628
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Patent ductus art... OMIM:619702
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomalous pulmonary ve... OMIM:619657
Dextrocardia
Situs inversus totalis, Hydrocephalus, Dextrocardia, Abnormal heart morphology ORPHA:1666
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short thorax, Poorly ossified v... ORPHA:3003
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:2522
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology ORPHA:3242
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology ORPHA:261197
Knobloch Syndrome
Patent ductus arteriosus, Occipital encephalocele, Hydrocephalus, Dextrocardia ORPHA:1571
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology ORPHA:2578
White Forelock With Malformations
Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Abnormal rib morphology, Pectus carinatum ORPHA:3068
Necrotizing Enterocolitis
Small for gestational age, Gastroschisis ORPHA:391673
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia OMIM:613095
Marden-Walker Syndrome
Intrauterine growth retardation, Dextrocardia OMIM:248700
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia OMIM:618929
Johanson-Blizzard Syndrome
Intrauterine growth retardation, Abnormal cardiac septum morphology, Dextrocardia ORPHA:2315
Fibrochondrogenesis
Hypoplastic scapulae, Abnormal rib morphology, Bell-shaped thorax, Short ribs, Narrow chest, Broa... ORPHA:2021
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Abnormal rib morphology, ... ORPHA:392
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Mening... OMIM:130720
Femoral-Facial Syndrome
Rib fusion, Abnormal rib morphology, Sprengel anomaly ORPHA:1988
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Ventricular septal defect ORPHA:2789
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology OMIM:601076
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Septopreoptic Holoprosencephaly
Abnormal rib morphology ORPHA:280195
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... OMIM:270100
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal cardiac septum morphol... OMIM:614294
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysp... ORPHA:249
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart ORPHA:991
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Missing ribs ORPHA:2759
Mucopolysaccharidosis Type 4
Pectus carinatum, Short thorax, Abnormal rib morphology, Reduced bone mineral density ORPHA:582
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:1318
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Abnormal rib morphology ORPHA:2180
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Patent ductus arteriosus, Dextrocardia OMIM:277380
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal rib morphology, Pectus carinatum ORPHA:3082
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Abnormal rib morphology, Osteoporosis, Narrow chest... ORPHA:1452
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
8P Inverted Duplication/Deletion Syndrome
Tetralogy of Fallot, Dextrocardia, Abnormal heart morphology ORPHA:96092
Antley-Bixler Syndrome
Abnormal rib morphology, Narrow chest, Craniosynostosis ORPHA:83
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology ORPHA:2234
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs ORPHA:3301
Mesomelic Dysplasia, Kantaputra Type
Abnormal rib morphology ORPHA:1836
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... OMIM:615067
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal anatomic... ORPHA:2461
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology ORPHA:93941
Trisomy 18
Ventricular septal defect, Spina bifida, Anencephaly, Holoprosencephaly, Atrial septal defect, In... ORPHA:3380
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Abnormal rib morphology OMIM:118100
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... ORPHA:2092
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Prune Belly Syndrome
Pectus excavatum, Abnormal rib morphology ORPHA:2970
Trisomy 13
Abnormal rib morphology, Narrow chest ORPHA:3378
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Umbilical hernia, Intrauterine growth ... OMIM:616145
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology, Abnormal rib morphology, Aplastic clavicle, Missing ribs ORPHA:2769
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Occipital meningocele, Hydrocephalus, Anencephaly OMIM:616546
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical co... OMIM:256520
Juberg-Hayward Syndrome
Abnormal rib morphology ORPHA:2319
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Neurooculorenal Syndrome
Dextrocardia, Aqueductal stenosis, Hydrocephalus, Mitral valve prolapse, Tetralogy of Fallot with... OMIM:620305
Restrictive Dermopathy
Dextrocardia, Large placenta, Patent ductus arteriosus, Short umbilical cord, Small placenta, Tra... ORPHA:1662
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida OMIM:109400
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Missing ribs ORPHA:1647
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Perimembranou... ORPHA:508498
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Hydrocephalus, Meni... ORPHA:567
Kyphoscoliotic Ehlers-Danlos Syndrome
Umbilical hernia, Bicuspid aortic valve, Dextrocardia ORPHA:536545
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Missing ribs, Abnormal rib morphology, Pectus carinatum, Reduc... ORPHA:2911
Axial Mesodermal Dysplasia Spectrum
Abnormal rib morphology, Missing ribs ORPHA:1834
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Double outlet right ventricle,... OMIM:300166
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Flaring of lower rib cage, Short thorax, Abnormal rib morphology, ... ORPHA:175
Trisomy 1Q
Short thorax, Abnormal rib morphology ORPHA:261344
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Tetrasomy 9P
Pericarditis, Dextrocardia, Hydrocephalus, Abnormal cardiac septum morphology, Abnormal mitral va... ORPHA:3310
Smith-Lemli-Opitz Syndrome
Gastroschisis, Cryptorchidism, Holoprosencephaly ORPHA:818
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Gastroschisis OMIM:154400
Fanconi Anemia
Spina bifida, Hydrocephalus, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnorm... ORPHA:84
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... OMIM:192350
Aspergillosis
Abnormal rib morphology ORPHA:1163
Orofaciodigital Syndrome Vi
Occipital meningocele, Hypoplastic left heart OMIM:277170
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... OMIM:614976
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Jacobsen Syndrome
Ventricular septal defect, Spina bifida, Hypoplastic left heart, Intrauterine growth retardation,... ORPHA:2308
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Atrial septal defect, Atrioven... OMIM:274000
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Abnormal rib morphology, Thickened cortex of long bones ORPHA:488434
Phaver Syndrome
Abnormal rib morphology ORPHA:2876
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida OMIM:619480
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Abnormal rib morphology ORPHA:2215
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Cenani-Lenz Syndrome
Abnormal rib morphology ORPHA:3258
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363958
Duplication Of Urethra
Chordee, Gastroschisis ORPHA:237
Nail-Patella Syndrome
Spina bifida OMIM:161200
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Increased bone mineral density, Shoulder flexion contracture, Pect... ORPHA:800
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Hypoglossia-Hypodactyly Syndrome
Gastroschisis ORPHA:989
Tetraamelia Syndrome 1
Hydrocephalus, Gastroschisis OMIM:273395
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Abnormal rib morphology, Narrow chest ORPHA:90652
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cor triatriatum, Ventricular septal defect, Dextrocardia, Aqueductal stenosis, Situs inversus tot... OMIM:619534
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Campomelic Dysplasia
Hydrocephalus, Abnormal heart morphology, Spina bifida, Spinal dysraphism OMIM:114290
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Abnormal rib morphology, Reduced bone mineral density, Narrow chest, Osteopetrosis ORPHA:667
Floating-Harbor Syndrome
Atrial septal defect, Umbilical hernia, Mesocardia OMIM:136140
Cole-Carpenter Syndrome
Abnormal rib morphology ORPHA:2050
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Mitral valve prolapse, Perimem... OMIM:180849
Osteogenesis Imperfecta
Osteopenia, Multiple rib fractures, Pectus excavatum, Osteoporosis, Abnormal rib morphology, Pect... ORPHA:666
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Prominent sternum, 11 pairs of ribs, Pectus excavatum OMIM:617877
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele ORPHA:2879
Alagille Syndrome
Abnormal rib morphology ORPHA:52
Mosaic Trisomy 8
Abnormal rib morphology, Narrow chest ORPHA:96061
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Abnormal rib morphology, Abnormal clavicle morphology, Reduced bone mi... ORPHA:581
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal rib morphology, Narrow chest, Abnormal scapula morphology ORPHA:93317
Vacterl/Vater Association
Abnormal rib morphology ORPHA:887
Marfan Syndrome
Mitral valve calcification, Meningocele, Mitral valve prolapse ORPHA:558
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta OMIM:267750
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Myhre Syndrome
Craniofacial hyperostosis, Abnormal rib morphology ORPHA:2588
Hurler Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:93473
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology ORPHA:1300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Abnormal rib morphology, Narrow chest, Craniosynostosis ORPHA:95699
Aicardi Syndrome
Spina bifida OMIM:304050
Ear-Patella-Short Stature Syndrome
Abnormal rib morphology, Aplastic clavicle, Craniosynostosis ORPHA:2554
Otopalatodigital Syndrome, Type Ii
Spina bifida, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia OMIM:304120
Monosomy 9Q22.3
Pectus excavatum, Abnormal rib morphology ORPHA:77301
Radio-Renal Syndrome
Abnormal rib morphology ORPHA:3015
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Tetralogy of Fallot ORPHA:2044
Arima Syndrome
Occipital meningocele OMIM:243910
Oculocerebrorenal Syndrome Of Lowe
Abnormal rib morphology, Osteomalacia ORPHA:534
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Charge Syndrome
Abnormal rib morphology, Abnormality of bone mineral density ORPHA:138
Simpson-Golabi-Behmel Syndrome
Pectus excavatum, Abnormal rib morphology ORPHA:373
Monosomy 9P
Abnormal rib morphology ORPHA:261112
Ulbright-Hodes Syndrome
Short sternum, Abnormal rib morphology, Short ribs, Thin ribs ORPHA:3404
Kindler Epidermolysis Bullosa
Abnormal rib morphology ORPHA:2908
Alagille Syndrome 1
Abnormal rib morphology OMIM:118450
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Amenorrhea OMIM:235200
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820
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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