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
Osteopenia, Prominent sternum, 11 pairs of ribs, Pectus excavatum OMIM:617877
Hemochromatosis, Type 1
Azoospermia, Impotence, Amenorrhea, Hypogonadotropic hypogonadism, Testicular atrophy 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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial hyperostosis, Abnormal rib ... ORPHA:2790
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia, Meningocele ORPHA:1759
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Gastroschisis, Anencephaly, Spina bifida ORPHA:2476
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Craniofacial hyperostosis ORPHA:1513
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Abnormal rib morphology ORPHA:3268
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs OMIM:617405
Joubert Syndrome 15
Exencephaly OMIM:614464
Grant Syndrome
Abnormal cortical bone morphology, Narrow chest, Decreased skull ossification, Abnormal rib morph... ORPHA:2097
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Kyphomelic Dysplasia
Lateral clavicle hook, Narrow chest, Short thorax, Undulate ribs, Missing ribs, Anterior rib cupping ORPHA:1801
Metatropic Dysplasia
Abnormal cortical bone morphology, Narrow chest, Abnormal rib morphology, Abnormal enchondral oss... ORPHA:2635
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
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly... ORPHA:1908
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Thoracic dysplasia, Horizontal ribs OMIM:615633
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon... OMIM:614779
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Intrauterine growth retardation, Atrial s... OMIM:611134
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Rib fusion OMIM:609813
Gastroschisis
Gastroschisis ORPHA:2368
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Pectus carinatum, Pectus excavatum, Multiple rib fractures OMIM:259440
Heart Defects-Limb Shortening Syndrome
Abnormal rib morphology, Narrow chest ORPHA:1354
Achondrogenesis Type 1B
Short thorax, Narrow chest, Abnormal rib morphology, Abnormal enchondral ossification ORPHA:93298
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:613686
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida ORPHA:2437
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morphology OMIM:602196
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Narrow chest, Decreased skull ossification, Abnormal rib morphology ORPHA:93267
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Spina bifida, Patent ductus arte... ORPHA:1120
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Patent ductus arteriosus ORPHA:2863
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia OMIM:618063
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon... OMIM:208530
Jeune Syndrome
Abnormal clavicle morphology, Narrow chest, Short thorax, Abnormal sternum morphology, Abnormal r... ORPHA:474
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia OMIM:617577
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Thoracolaryngopelvic Dysplasia
Short ribs, Horizontal ribs, Bell-shaped thorax, Irregular chondrocostal junctions OMIM:187760
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Total anomalous... OMIM:613751
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Anencephaly, Hydrocephalus, Patent ductus ar... OMIM:313850
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the g... OMIM:306955
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:619607
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Omphalocele, Holoprose... ORPHA:63259
Achondrogenesis, Type Ia
Bell-shaped thorax, Unossified vertebral bodies, Barrel-shaped chest, Short thorax, Broad clavicl... OMIM:200600
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Cardiac Diverticulum
Transposition of the great arteries, Tricuspid atresia, Patent ductus arteriosus, Dextrocardia, P... ORPHA:1686
Poland Syndrome
Dextrocardia OMIM:173800
Chiari Malformation Type Ii
Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida OMIM:207950
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Missing ribs, Posterior rib fusion, Abnormal rib morphology ORPHA:1797
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal rib morphology ORPHA:1486
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Abnormal rib morphology ORPHA:2772
Hypophosphatasia
Craniosynostosis, Abnormal rib morphology, Narrow chest ORPHA:436
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Encephalocele, Hydrocephalus, Holoprosencephaly, Atrial septal d... OMIM:264480
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Hydrocephalus, ... OMIM:314390
Triploidy
Meningocele, Hydrocephalus, Holoprosencephaly, Intrauterine growth retardation, Abnormal cardiac ... ORPHA:3376
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Omphalocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Mosaic Trisomy 14
Narrow chest, Abnormal rib morphology ORPHA:1703
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia OMIM:606763
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Abnormal rib morphology, Osteoporosis ORPHA:93351
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Meckel Syndrome, Type 2
Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele OMIM:603194
Wildervanck Syndrome
Meningocele ORPHA:3456
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Humero-Radial Synostosis
Meningocele ORPHA:3265
Constricting Bands, Congenital
Bladder exstrophy, Gastroschisis, Encephalocele, Omphalocele OMIM:217100
Mosaic Trisomy 9
Dextrocardia, Abnormal heart valve morphology, Spina bifida, Patent ductus arteriosus, Intrauteri... ORPHA:99776
Limb Body Wall Complex
Short umbilical cord, Ectopia cordis, Anencephaly, Encephalocele, Spina bifida occulta, Hydroceph... ORPHA:2369
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia OMIM:615444
Cooper-Jabs Syndrome
Missing ribs, Reduced bone mineral density, Abnormal rib morphology ORPHA:1488
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Abnormal cortical bone morphology, Craniofacial ... ORPHA:2484
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Joubert Syndrome With Ocular Defect
Hydrocephalus, Dextrocardia, Encephalocele ORPHA:220493
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Meacham Syndrome
Stillbirth, Transposition of the great arteries, Partial anomalous pulmonary venous return, Dextr... OMIM:608978
Cardiac-Urogenital Syndrome
Mesocardia, Patent urachus, Patent ductus arteriosus, Partial anomalous pulmonary venous return, ... OMIM:618280
Autosomal Recessive Spondylocostal Dysostosis
Spina bifida occulta, Meningocele, Umbilical hernia, Intrauterine growth retardation, Anomalous p... ORPHA:2311
Secondary Short Bowel Syndrome
Failure to thrive, Gastroschisis, Weight loss ORPHA:95427
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect, Meningocele OMIM:620511
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Colonic Atresia
Gastroschisis, Omphalocele ORPHA:1198
Primary Pulmonary Hypoplasia
Intrauterine growth retardation, Secundum atrial septal defect, Dextrocardia ORPHA:2257
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Scimitar Syndrome
Tricuspid atresia, Partial anomalous pulmonary venous return, Dextrocardia, Truncus arteriosus, V... ORPHA:185
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Abnormal rib morphology ORPHA:2145
Gm1 Gangliosidosis
Inguinal hernia, Failure to thrive, Weight loss, Aplasia/Hypoplasia of the abdominal wall muscula... ORPHA:354
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Intrauterine growth retardation, Ve... ORPHA:1393
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Joubert Syndrome 14
Hydrocephalus, Ventricular septal defect, Encephalocele, Meningocele OMIM:614424
Diastrophic Dysplasia
Increased bone mineral density, Abnormal rib morphology, Abnormal clavicle morphology ORPHA:628
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Patent ductus arteriosus, Dextrocardia, Ventricular se... OMIM:619657
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Partial anomalous pulmonary venous return, Dextrocardia, Patent foramen o... OMIM:619702
Dextrocardia
Hydrocephalus, Situs inversus totalis, Abnormal heart morphology, Dextrocardia 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
Exencephaly, Encephalocele ORPHA:2211
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele, Dextrocardia, Patent ductus arteriosus ORPHA:1571
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Dextrocardia, Abnormal aortic valve morphology ORPHA:261197
Pyknoachondrogenesis
Craniofacial hyperostosis, Short thorax, Short ribs, Enlarged thorax, Abnormal intramembranous os... ORPHA:3003
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Pectus excavatum, Abnormal rib morphology ORPHA:2522
Renpenning Syndrome
Sprengel anomaly, Pectus excavatum, Abnormal rib morphology ORPHA:3242
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
White Forelock With Malformations
Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Abnormal rib morphology ORPHA:2578
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Abnormal rib morphology, Craniofacial hyperostosis ORPHA:3068
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia OMIM:618929
Fibrochondrogenesis
Bell-shaped thorax, Narrow chest, Short ribs, Abnormal rib morphology, Hypoplastic scapulae, Broa... ORPHA:2021
Johanson-Blizzard Syndrome
Intrauterine growth retardation, Dextrocardia, Abnormal cardiac septum morphology ORPHA:2315
Marden-Walker Syndrome
Intrauterine growth retardation, Dextrocardia OMIM:248700
Holt-Oram Syndrome
Abnormal clavicle morphology, Pectus excavatum, Abnormal rib morphology, Sprengel anomaly, Down-s... ORPHA:392
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Umbilical hernia, Patent ductus arteriosus, Bicuspid aortic valve, Ve... OMIM:130720
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Partial anomalous pulmonary venous return, Double inlet left ventr... OMIM:270100
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia OMIM:613095
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Femoral-Facial Syndrome
Sprengel anomaly, Abnormal rib morphology, Rib fusion ORPHA:1988
Lateral Meningocele Syndrome
Meningocele, Ventricular septal defect, Umbilical hernia ORPHA:2789
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Necrotizing Enterocolitis
Gastroschisis, Small for gestational age ORPHA:391673
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Broad ribs ORPHA:2519
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Septopreoptic Holoprosencephaly
Abnormal rib morphology ORPHA:280195
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology OMIM:601076
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Coronary artery fistula, Intrauterine growth retardation, Ventricular septal defect... OMIM:614294
Mucopolysaccharidosis Type 4
Short thorax, Pectus carinatum, Reduced bone mineral density, Abnormal rib morphology ORPHA:582
Fibrous Dysplasia Of Bone
Rickets, Abnormal clavicle morphology, Abnormal bone structure, Cortical irregularity, Abnormal r... ORPHA:249
Pagod Syndrome
Situs inversus totalis, Encephalocele, Meningocele, Spina bifida, Hypoplastic left heart ORPHA:991
Campomelia, Cumming Type
Abnormal rib morphology, Abnormally ossified vertebrae, Abnormal thorax morphology ORPHA:1318
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal rib morphology ORPHA:2759
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Abnormal rib morphology ORPHA:2180
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Ellis Van Creveld Syndrome
Situs inversus totalis, Atrioventricular canal defect, Dextrocardia, Abnormal heart valve morphol... ORPHA:289
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Dextrocardia, Patent ductus arteriosus OMIM:277380
Cleidocranial Dysplasia
Narrow chest, Short clavicles, Decreased skull ossification, Abnormal rib morphology, Osteoporosi... ORPHA:1452
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Abnormal rib morphology ORPHA:3082
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Aortic valve stenosis, Double outlet right ventricle, Ventr... OMIM:615067
Antley-Bixler Syndrome
Craniosynostosis, Narrow chest, Abnormal rib morphology ORPHA:83
8P Inverted Duplication/Deletion Syndrome
Abnormal heart morphology, Tetralogy of Fallot, Dextrocardia ORPHA:96092
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology ORPHA:2234
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3301
Mesomelic Dysplasia, Kantaputra Type
Abnormal rib morphology ORPHA:1836
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Trisomy 18
Anencephaly, Spina bifida, Holoprosencephaly, Intrauterine growth retardation, Atrial septal defe... ORPHA:3380
Marden-Walker Syndrome
Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia, Hydrocephalus, Int... ORPHA:2461
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology ORPHA:93941
Focal Dermal Hypoplasia
Spina bifida, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect, Abnormal car... ORPHA:2092
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Prune Belly Syndrome
Pectus excavatum, Abnormal rib morphology ORPHA:2970
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Abnormal rib morphology OMIM:118100
Trisomy 13
Narrow chest, Abnormal rib morphology ORPHA:3378
Catel-Manzke Syndrome
Dextrocardia, Umbilical hernia, Intrauterine growth retardation, Overriding aorta, Ventricular se... OMIM:616145
Familial Osteodysplasia, Anderson Type
Missing ribs, Abnormal cortical bone morphology, Aplastic clavicle, Abnormal rib morphology ORPHA:2769
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Atrial septal defect, Occipital meningocele, Anencephaly OMIM:616546
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida, Umbilical hernia OMIM:613776
Neurooculorenal Syndrome
Aqueductal stenosis, Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Hydrocephalus, Pa... OMIM:620305
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Neu-Laxova Syndrome 1
Short umbilical cord, Stillbirth, Transposition of the great arteries, Small placenta, Hydranence... OMIM:256520
Juberg-Hayward Syndrome
Abnormal rib morphology ORPHA:2319
Basal Cell Nevus Syndrome 1
Hydrocephalus, Cardiac rhabdomyoma, Cardiac fibroma, Spina bifida OMIM:109400
Restrictive Dermopathy
Short umbilical cord, Large placenta, Transposition of the great arteries, Small placenta, Dextro... ORPHA:1662
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Truncus arteriosus, Spin... ORPHA:508498
Oculocerebrocutaneous Syndrome
Missing ribs, Abnormal rib morphology ORPHA:1647
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Narrow chest, Short thorax, Pectus carinatum, Abnormally ossified ver... ORPHA:175
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Umbilical hernia ORPHA:536545
Microphthalmia, Syndromic 2
Dextrocardia, Pulmonic stenosis, Aortic valve stenosis, Umbilical hernia, Mitral valve prolapse, ... OMIM:300166
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Abnormal rib morphology ORPHA:1834
Poland Syndrome
Reduced bone mineral density, Asymmetry of the thorax, Abnormal sternum morphology, Pectus carina... ORPHA:2911
Vater/Vacterl Association
Occipital encephalocele, Transposition of the great arteries, Patent ductus arteriosus, Spina bif... OMIM:192350
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida ORPHA:3412
Trisomy 1Q
Short thorax, Abnormal rib morphology ORPHA:261344
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Tetrasomy 9P
Dextrocardia, Hydrocephalus, Patent foramen ovale, Abnormal mitral valve morphology, Pericarditis... ORPHA:3310
22Q11.2 Deletion Syndrome
Tricuspid atresia, Abnormal aortic valve morphology, Patent ductus arteriosus, Meningocele, Hydro... ORPHA:567
Fanconi Anemia
Abnormal aortic valve morphology, Patent ductus arteriosus, Hydrocephalus, Hypertrophic cardiomyo... ORPHA:84
Aspergillosis
Abnormal rib morphology ORPHA:1163
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis, Gastroschisis OMIM:154400
Orofaciodigital Syndrome Vi
Occipital meningocele, Hypoplastic left heart OMIM:277170
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Smith-Lemli-Opitz Syndrome
Gastroschisis, Holoprosencephaly ORPHA:818
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Carpenter Syndrome 2
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Umbilical hernia, Pate... OMIM:614976
Phaver Syndrome
Abnormal rib morphology ORPHA:2876
Jacobsen Syndrome
Spina bifida, Aortic valve stenosis, Intrauterine growth retardation, Ventricular septal defect, ... ORPHA:2308
Duplication Of Urethra
Chordee, Gastroschisis ORPHA:237
Camptodactyly Syndrome, Guadalajara Type 3
Thickened cortex of long bones, Abnormal rib morphology, Osteopenia ORPHA:488434
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Spina bifida, Tetralogy of Fallot, Patent ductus arteriosus, Atria... OMIM:274000
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Abnormal rib morphology ORPHA:2215
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Cardiomyopathy, Spina bifida, Pulmonic stenosis, Abnormal heart morphology, Bicusp... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Cardiomyopathy, Spina bifida, Pulmonic stenosis, Abnormal heart morphology, Bicusp... ORPHA:363958
Gorlin Syndrome
Anterior rib cupping, Rib fusion, Abnormal rib morphology, Bifid ribs ORPHA:377
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Patent ductus arteriosus, Spina bifida OMIM:619480
Cenani-Lenz Syndrome
Abnormal rib morphology ORPHA:3258
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Nail-Patella Syndrome
Spina bifida OMIM:161200
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Schwartz-Jampel Syndrome
Increased bone mineral density, Pectus carinatum, Shoulder flexion contracture, Abnormally ossifi... ORPHA:800
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Hypoglossia-Hypodactyly Syndrome
Gastroschisis ORPHA:989
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Narrow chest, Abnormal rib morphology ORPHA:90652
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Osteogenesis Imperfecta
Osteopenia, Reduced bone mineral density, Abnormal cortical bone morphology, Narrow chest, Pectus... ORPHA:666
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Situs inversus totalis, Atrioventricular canal defect, Inlet ventricular sep... OMIM:619534
Tetraamelia Syndrome 1
Hydrocephalus, Gastroschisis OMIM:273395
Cole-Carpenter Syndrome
Abnormal rib morphology ORPHA:2050
Campomelic Dysplasia
Hydrocephalus, Spinal dysraphism, Abnormal heart morphology, Spina bifida OMIM:114290
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Umbilical hernia OMIM:136140
Rubinstein-Taybi Syndrome 1
Perimembranous ventricular septal defect, Spina bifida occulta, Patent foramen ovale, Spina bifid... OMIM:180849
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Prominent sternum, 11 pairs of ribs, Pectus excavatum OMIM:617877
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Narrow chest, Abnormal rib morphology, Craniosynostosis ORPHA:667
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Reduced bone mineral density, Abnormal rib morphology, Craniofacial... ORPHA:581
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele ORPHA:2879
Alagille Syndrome
Abnormal rib morphology ORPHA:52
Mosaic Trisomy 8
Narrow chest, Abnormal rib morphology ORPHA:96061
Femoral-Facial Syndrome
Encephalocele, Truncus arteriosus, Spina bifida, Pulmonic stenosis, Patent ductus arteriosus, Ven... OMIM:134780
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Abnormal scapula morphology, Abnormal rib morphology ORPHA:93317
Knobloch Syndrome 1
Occipital encephalocele, Occipital meningocele, Spina bifida occulta, Patent ductus arteriosus OMIM:267750
Cutis Laxa, Autosomal Recessive, Type Ib
Right ventricular dilatation, Neonatal death, Spina bifida OMIM:614437
Vacterl/Vater Association
Abnormal rib morphology ORPHA:887
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc... OMIM:610828
Myhre Syndrome
Abnormal rib morphology, Craniofacial hyperostosis ORPHA:2588
Hurler Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:93473
Marfan Syndrome
Mitral valve calcification, Tricuspid valve prolapse, Mitral valve prolapse, Meningocele ORPHA:558
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
Exstrophy-Epispadias Complex
Hydrocephalus, Abnormal heart morphology, Spina bifida ORPHA:322
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Craniosynostosis, Hypoplastic scapulae, Abnormal rib morphology, Narrow chest ORPHA:95699
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology ORPHA:1300
Aicardi Syndrome
Spina bifida OMIM:304050
Monosomy 9Q22.3
Pectus excavatum, Abnormal rib morphology ORPHA:77301
Otopalatodigital Syndrome, Type Ii
Stillbirth, Hydrocephalus, Spina bifida, Umbilical hernia, Atrial septal defect OMIM:304120
Ear-Patella-Short Stature Syndrome
Craniosynostosis, Aplastic clavicle, Abnormal rib morphology ORPHA:2554
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
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Abnormal rib morphology ORPHA:534
Holoprosencephaly 9
Hydrocephalus, Occipital meningocele, Holoprosencephaly, Alobar holoprosencephaly OMIM:610829
Simpson-Golabi-Behmel Syndrome
Pectus excavatum, Abnormal rib morphology ORPHA:373
Charge Syndrome
Abnormality of bone mineral density, Abnormal rib morphology ORPHA:138
Monosomy 9P
Abnormal rib morphology ORPHA:261112
Ulbright-Hodes Syndrome
Short sternum, Thin ribs, Short ribs, Abnormal rib morphology ORPHA:3404
Kindler Epidermolysis Bullosa
Abnormal rib morphology ORPHA:2908
Alagille Syndrome 1
Abnormal rib morphology OMIM:118450
Hemochromatosis, Type 1
Azoospermia, Impotence, Amenorrhea, Hypogonadotropic hypogonadism, Testicular atrophy OMIM:235200
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820
Fraser Syndrome
Abnormal rib morphology ORPHA:2052
Charge Syndrome
Down-sloping shoulders, Abnormal rib morphology 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 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Nasal Septum Deviation as the Consequence of BMP-Controlled Changes to Cartilage Properties. Frontiers in cell and developmental biology (June 2021) Bmp2tm1(KOMP)Vlcg PMC8265824
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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter