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Gene: Smad2 MGI:108051

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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:
SMAD family member 2
Synonyms:
7120426M23Rik,  Smad 2,  Madr2,  Madh2

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 Smad2 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 Smad2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Patent ductus arteriosus, Descending th... ORPHA:91387
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic aneurysm, Patent... OMIM:619657
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Thoracic aortic aneurysm, High palate, Abdominal aortic aneurysm OMIM:619656

The table below shows human diseases predicted to be associated to Smad2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Cerebral cortical atrophy, Holoprosencephaly, Microcephaly ORPHA:2523
Microhydranencephaly, X-Linked
Holoprosencephaly, Microcephaly OMIM:306990
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Macrocephaly OMIM:300706
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da... OMIM:617967
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... OMIM:609637
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Vissers-Bodmer Syndrome
Decreased head circumference, Holoprosencephaly OMIM:619033
Holoprosencephaly 11
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly OMIM:614226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly OMIM:615041
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly OMIM:611638
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... ORPHA:2182
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Ho... ORPHA:2570
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Distal Deletion 13Q
Encephalocele, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosence... ORPHA:1590
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Aplasia/... ORPHA:1908
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Absent septum pellucidum, Holoprosencephaly, Anterior encephalocele OMIM:601357
Hartsfield Syndrome
Encephalocele, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly ORPHA:2117
Microtia-Anotia
Holoprosencephaly OMIM:600674
Lambotte Syndrome
Microcephaly, Semilobar holoprosencephaly OMIM:245552
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Microcephaly ORPHA:293
Ring Chromosome 21 Syndrome
Holoprosencephaly, Microcephaly ORPHA:1445
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Microcephaly ORPHA:2165
Distal Monosomy 7Q36
Holoprosencephaly, Microcephaly ORPHA:1636
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Macrocephaly ORPHA:93274
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:615433
Microtia
Holoprosencephaly ORPHA:83463
Triploidy
Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Macroce... ORPHA:3376
Monosomy 18P
Holoprosencephaly, Microcephaly ORPHA:1598
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Microcephaly ORPHA:2163
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Microcephaly OMIM:147250
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly ORPHA:990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Hypoplasia of the brains... OMIM:253800
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Microcephaly, Aplasia/Hypoplasia of the pyramidal tract, Neonatal dea... OMIM:619602
Otodental Dysplasia
Delayed eruption of teeth, Coloboma, Pulp calcification, Taurodontia, Enamel hypoplasia OMIM:166750
Joubert Syndrome 15
Exencephaly OMIM:614464
Holoprosencephaly 14
Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microcephaly, Hydrocepha... OMIM:619895
Agnathia-Otocephaly Complex
Agenesis of corpus callosum, Holoprosencephaly OMIM:202650
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:77298
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Microphthalmia, Isolated, With Coloboma 4
Coloboma OMIM:251505
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Lis... ORPHA:63259
Pseudotrisomy 13 Syndrome
Encephalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogy... OMIM:264480
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly ORPHA:250999
Chromosome 1Q41-Q42 Deletion Syndrome
Cerebellar hypoplasia, Holoprosencephaly, Microcephaly OMIM:612530
Holoprosencephaly 4
Semilobar holoprosencephaly OMIM:142946
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma, Short stature OMIM:618295
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short stature ORPHA:2776
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplasia of the corpus callosu... OMIM:618500
Microform Holoprosencephaly
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly ORPHA:280200
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly ORPHA:563612
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Holoprosencephaly 7
Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, L... OMIM:610828
Microphthalmia, Isolated, With Coloboma 6
Coloboma OMIM:613703
Holoprosencephaly 3
Holoprosencephaly, Microcephaly OMIM:142945
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Holoprosen... ORPHA:2166
16P13.11 Microdeletion Syndrome
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly ORPHA:261236
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Pancreatic Agenesis-Holoprosencephaly Syndrome
Agenesis of corpus callosum, Holoprosencephaly, Semilobar holoprosencephaly ORPHA:556955
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Short stature ORPHA:93950
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly, Macrocephaly, Neonatal death OMIM:269860
Abruzzo-Erickson Syndrome
Coloboma, Short stature OMIM:302905
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Anterior basal encephalocele, Coloboma, C... OMIM:136760
49,Xxxxy Syndrome
Holoprosencephaly, Hypoplasia of the corpus callosum ORPHA:96264
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short stature ORPHA:93945
Arachnoid Cyst
Encephalocele, Posterior fossa cyst at the fourth ventricle, Mild malformation of cortical develo... ORPHA:2356
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Amelogenesis imperfecta OMIM:601216
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Short stature OMIM:156510
Halperin-Birk Syndrome
Death in childhood, Umbilical hernia, Agenesis of corpus callosum, Semilobar holoprosencephaly OMIM:618651
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Short stature, Iris coloboma OMIM:610023
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Malar flattening, Optic disc coloboma, Micrognathia OMIM:241310
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Trisomy 18
Spina bifida, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencep... ORPHA:3380
Endocrine-Cerebroosteodysplasia
Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Aplasia/Hypopla... OMIM:612651
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Microcephaly, Co... ORPHA:468631
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Microcephaly, Lobar holoprosencephaly OMIM:614701
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Holoprosencephaly
Encephalocele, Microcephaly, Hydrocephalus, Spinal dysraphism, Aplasia/Hypoplasia of the corpus c... ORPHA:2162
Hartsfield Syndrome
Microcephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Agenesis of corpus callosum, Sem... OMIM:615465
Meckel Syndrome 14
Occipital encephalocele, Holoprosencephaly OMIM:619879
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla OMIM:246560
Biemond Syndrome Type 2
Coloboma, Short stature, Delayed puberty ORPHA:141333
Jacobsen Syndrome
Macrocephaly, Hydrocephalus, Holoprosencephaly, Microcephaly OMIM:147791
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Malar flattening, Short stature ORPHA:261295
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature OMIM:608154
Abruzzo-Erickson Syndrome
Short stature, Coloboma, Chorioretinal coloboma, Malar flattening, Iris coloboma ORPHA:921
Monosomy 13Q14
Holoprosencephaly, Hypoplasia of the corpus callosum, Microcephaly ORPHA:1587
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Agenesis o... OMIM:301043
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla OMIM:618302
Holoprosencephaly 9
Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Partial agenesis... OMIM:610829
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:397973
Mosaic Variegated Aneuploidy Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Aplasia/Hypoplasia of... ORPHA:1052
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Secondary microcephaly, Holoprosencephaly, ... OMIM:618820
Pallister-Hall Syndrome
Neonatal death, Holoprosencephaly OMIM:146510
Verheij Syndrome
Branchial cyst, Short stature, Growth delay, Coloboma, Intrauterine growth retardation, Retrognathia OMIM:615583
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Short stature ORPHA:85279
Holoprosencephaly 1
Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis of corpus c... OMIM:236100
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Pachygyria, Exencephaly, Macrogyria, Lissencephaly, Po... ORPHA:2211
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1248
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Microcephaly ORPHA:3186
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla OMIM:300676
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corp... OMIM:615948
Steinfeld Syndrome
Holoprosencephaly OMIM:184705
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Meckel Syndrome
Encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Aplasia/Hypopla... ORPHA:564
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Umbilical hernia, Short stature, Delayed eruption of teeth ORPHA:915
Holoprosencephaly 2
Microcephaly, Alobar holoprosencephaly, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of cor... OMIM:157170
Chromosome 13Q14 Deletion Syndrome
Absent septum pellucidum, Holoprosencephaly, Hypoplasia of the corpus callosum, Umbilical hernia,... OMIM:613884
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Retrognathia OMIM:620157
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla ORPHA:1529
Keipert Syndrome
Hypoplasia of the maxilla, Short stature ORPHA:2662
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Occipital encephalocele ORPHA:324416
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Baraitser-Winter Syndrome 2
Coloboma, Retrognathia, Short stature OMIM:614583
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Coloboma OMIM:167730
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Joubert Syndrome 16
Encephalocele, Coloboma OMIM:614465
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... ORPHA:199306
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Smith-Lemli-Opitz Syndrome
Death in infancy, Diffuse cerebral atrophy, Microcephaly, Hydrocephalus, Partial agenesis of the ... OMIM:270400
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Umbilical hernia, Hypoplasia of the maxilla OMIM:601499
Stickler Syndrome Type 1
Hypoplasia of the maxilla ORPHA:90653
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Trismus, Delayed eruption of primary teeth, Micrognathia OMIM:616367
Meier-Gorlin Syndrome 4
Short stature, Micrognathia, Hypoplasia of the maxilla, Birth length less than 3rd percentile, In... OMIM:613804
Smith-Lemli-Opitz Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Biparietal narrowing,... ORPHA:818
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1540
Crouzon Syndrome
Hypoplasia of the maxilla, Iris coloboma ORPHA:207
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Increased head circumferenc... ORPHA:268810
Frontorhiny
Encephalocele, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Basal encephalocele, Crani... ORPHA:391474
Joubert Syndrome 22
Coloboma, Intrauterine growth retardation OMIM:615665
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Malar flattening, Rhizomelia, Micrognathia OMIM:108721
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Malar flattening, Short stature, Micrognathia ORPHA:79113
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening, Short stature OMIM:109120
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening ORPHA:93262
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla... ORPHA:439822
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Growth de... ORPHA:2409
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Micrognathia ORPHA:776
Ring Chromosome 7 Syndrome
Cerebral cortical atrophy, Holoprosencephaly, Microcephaly ORPHA:1449
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Umbilical hernia, Short stature ORPHA:2095
Pycnodysostosis
Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Persistence of primary t... ORPHA:763
Cohen Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Delayed puberty, Macrodontia of permanent... OMIM:216550
Charge Syndrome
Microcephaly, Aqueductal stenosis, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Dandy... ORPHA:138
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Proboscis Lateralis
Optic nerve hypoplasia, Abnormal corpus callosum morphology, Holoprosencephaly, Macrocephaly ORPHA:141099
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Short stature, Micrognathia, Hypoplasia of the maxilla, Dental maloccl... OMIM:257850
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Coloboma, Severe postnatal growth retardation ORPHA:2399
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Hypoplasia of the maxilla ORPHA:228396
Carpenter Syndrome 1
Short stature, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Umbilical h... OMIM:201000
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla OMIM:218000
Andersen Cardiodysrhythmic Periodic Paralysis
Short stature, Short mandibular rami, Persistence of primary teeth, Hypoplasia of the maxilla, Mi... OMIM:170390
Meier-Gorlin Syndrome 5
Short stature, Micrognathia, Hypoplasia of the maxilla, Birth length less than 3rd percentile, In... OMIM:613805
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Short stature OMIM:614261
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Holoprosencephaly, Agene... ORPHA:95494
Acrodysostosis
Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Delayed eruption of teeth ORPHA:950
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Microcephaly, Hypoplasia of the corpus callosum, Semilobar holoprosencephaly OMIM:301044
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia, Short stature ORPHA:1307
Acrofacial Dysostosis, Cincinnati Type
Short stature, Micrognathia, Hypoplasia of the maxilla, Retrognathia, Aplastic zygomatic arch OMIM:616462
Dysostosis, Stanescu Type
Short stature, Abnormal dental enamel morphology, Hypoplasia of the maxilla, Carious teeth, Hypop... ORPHA:1798
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Growth delay ORPHA:782
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Umbilical hernia, Hypoplasia of the maxilla, Aniridia ORPHA:1101
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla OMIM:619142
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma, Short stature, Micrognathia OMIM:617306
Cohen Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Delayed... ORPHA:193
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:245
Temtamy Preaxial Brachydactyly Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Growth delay ORPHA:363417
Marshall Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Hypoplasia o... ORPHA:560
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur... OMIM:101800
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Short stature ORPHA:293939
Distal Deletion 19P
Hypoplasia of the maxilla, Umbilical hernia ORPHA:96129
Townes-Brocks Syndrome 1
Umbilical hernia, Hydrocephalus, Holoprosencephaly, Microcephaly OMIM:107480
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia OMIM:608149
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Micrognathia OMIM:300534
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Microcephaly, Semilobar holoprosencephaly OMIM:129900
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Intrauterine growth retardation, Postnatal growth retardation ORPHA:251061
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ... ORPHA:861
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Mild short stature, Short stature, Delayed puberty OMIM:305400
Pallister-Hall Syndrome
Abnormal basal ganglia MRI signal intensity, Cerebellar hypoplasia, Holoprosencephaly, Macrocepha... ORPHA:672
Geroderma Osteodysplasticum
Mandibular prognathia, Hypoplasia of the maxilla, Severe short stature, Malar flattening OMIM:231070
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of... ORPHA:50814
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Andersen-Tawil Syndrome
Abnormality of dental color, Short stature, Persistence of primary teeth, Hypoplasia of the maxil... ORPHA:37553
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla ORPHA:481152
Mohr Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Agenesis of central incisor, Malar flatte... OMIM:252100
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Short stature, Hypoplasia of the maxilla, A... ORPHA:192
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla ORPHA:178303
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the maxilla OMIM:101600
Angelman Syndrome
Mandibular prognathia, Hypoplasia of the maxilla OMIM:105830
Van Maldergem Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Growth delay, Malar flattening OMIM:601390
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla OMIM:123500
Meier-Gorlin Syndrome 3
Microretrognathia, Short stature, Micrognathia, Hypoplasia of the maxilla, Birth length less than... OMIM:613803
Charge Syndrome
Umbilical hernia, Holoprosencephaly, Microcephaly OMIM:214800
Rapp-Hodgkin Syndrome
Short stature, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Enamel hypoplasia OMIM:129400
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Shprintzen-Goldberg Syndrome
Hypoplasia of the maxilla, Umbilical hernia, Retrognathia, Micrognathia ORPHA:2462
Martsolf Syndrome 1
Hypoplasia of the maxilla, Short stature, Micrognathia OMIM:212720
Shprintzen-Goldberg Craniosynostosis Syndrome
Hypoplasia of the maxilla, Umbilical hernia, Dental malocclusion, Micrognathia OMIM:182212
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:3044
Cowden Syndrome 5
Hypoplasia of the maxilla, Micrognathia OMIM:615108
Van Maldergem Syndrome 2
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Growth delay, Malar flattening OMIM:615546
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine, Postnatal growth retardation, ... ORPHA:79345
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Micrognathia OMIM:309520
Cowden Syndrome 6
Hypoplasia of the maxilla, Micrognathia OMIM:615109
Cerebrofacioarticular Syndrome
Hypoplasia of the maxilla, Short stature, Micrognathia ORPHA:314679
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla OMIM:106260
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Severe short stature, Hypoplasia of the maxilla... ORPHA:2588
Ear-Patella-Short Stature Syndrome
Severe short stature, Micrognathia, Hypoplasia of the maxilla, Growth delay, Mandibular aplasia, ... ORPHA:2554
Apert Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Delayed eruption of teeth ORPHA:87
Greenberg Dysplasia
Rhizomelia, Micrognathia, Hypoplasia of the maxilla, Large placenta, Severe short-limb dwarfism, ... OMIM:215140
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Short stature, Delayed eruption of teeth, Micrognathia OMIM:259600
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Retrognathia, Delayed eruption of teeth, Micrognathia OMIM:601812
Cowden Syndrome 1
Hypoplasia of the maxilla, Micrognathia OMIM:158350
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Severe short stature, Rhizomelia, Hypoplasia of... OMIM:166250
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, H... ORPHA:306542
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Umbilical hernia, Short stature, Proportionate short stature OMIM:608328
Branchiooculofacial Syndrome
Micrognathia, Postnatal growth retardation, Cleft of chin, Branchial anomaly, Retinal coloboma, M... OMIM:113620
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Umbilical hernia, Growth delay, Hypoplasia of the zygomatic bone ORPHA:920
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Short stature, Proportionate short stature OMIM:277600
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Short stature ORPHA:794
Branchioskeletogenital Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Carious teeth, Umbilical hernia, Abnormal denti... ORPHA:1299
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Sinusitis ORPHA:238468
Dyskeratosis Congenita
Short stature, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Intrauterine growth retarda... ORPHA:1775
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Short stature, Micrognathia, Hypoplasia of the maxilla, Postnatal growth retardation, Recurrent s... OMIM:213980
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental... OMIM:209885
Rubinstein-Taybi Syndrome 1
Short stature, Spina bifida, Micrognathia, Hypoplasia of the maxilla, Postnatal growth retardatio... OMIM:180849
Meier-Gorlin Syndrome 1
Hypoplasia of the maxilla, Intrauterine growth retardation, Birth length less than 3rd percentile... OMIM:224690
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,... OMIM:211380
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Malar flattening, Cleft of chin, Short stature OMIM:101400
Nablus Mask-Like Facial Syndrome
Hypoplasia of the maxilla, Retrognathia OMIM:608156
Myhre Syndrome
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Birth length less than 3rd perce... OMIM:139210
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Short stature, Micrognathia, Hypoplasia of the maxilla, Large placenta, Po... ORPHA:96334
Goldberg-Shprintzen Syndrome
Hypoplasia of the maxilla OMIM:609460
Van Den Ende-Gupta Syndrome
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:600920
Bartsocas-Papas Syndrome 1
Hypoplasia of the maxilla, Intrauterine growth retardation, Micrognathia OMIM:263650
Microphthalmia With Limb Anomalies
Hypoplasia of the maxilla, Short stature, Hypoplasia of the premaxilla, Micrognathia ORPHA:1106
Peters-Plus Syndrome
Rhizomelia, Micrognathia, Hypoplasia of the maxilla, Postnatal growth retardation, Agenesis of ma... OMIM:261540
Zttk Syndrome
Hypoplasia of the maxilla, Intrauterine growth retardation, Growth delay, Short stature OMIM:617140
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplasia of the maxilla, Taurodontia OMIM:305100
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Short stature OMIM:617402
Stickler Syndrome
Short stature, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Advanc... ORPHA:828
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Super... OMIM:614188
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Aniridia OMIM:180500
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Malar flattening, Carious teeth OMIM:604292
Floating-Harbor Syndrome
Short stature, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Growth delay ORPHA:2044
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Intrauterine growth retardation, Proportionate short stature ORPHA:500150
Singleton-Merten Syndrome 1
Short stature, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the toot... OMIM:182250
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Branchial anomaly, Malar flatte... OMIM:164210
Primrose Syndrome
Short stature, Hypoplasia of the maxilla, Delayed puberty, Malar flattening, Increased size of th... OMIM:259050
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Disproportionate short-trunk short stature OMIM:300106
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Patent ductus arteriosus, Descending th... ORPHA:91387
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic aneurysm, Patent... OMIM:619657
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Thoracic aortic aneurysm, High palate, Abdominal aortic aneurysm OMIM:619656

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 Smad2

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 Smad2.

No publications found that use IMPC mice or data for Smad2.

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
Smad2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Smad2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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