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

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 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.

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
Microcephaly, Cerebral cortical atrophy, Holoprosencephaly ORPHA:2523
Microhydranencephaly, X-Linked
Microcephaly, Holoprosencephaly OMIM:306990
Mental retardation, x-linked, syndromic, Turner type
Macrocephaly, Holoprosencephaly OMIM:300706
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Cerebellar agenesis... OMIM:617967
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Microcepha... OMIM:609637
Acalvaria
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida ORPHA:945
Vissers-Bodmer Syndrome
Holoprosencephaly, Decreased head circumference OMIM:619033
Holoprosencephaly 11
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum OMIM:614226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Neural tube defect OMIM:615041
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Absent septum... ORPHA:2182
Microphthalmia/Coloboma 5
Holoprosencephaly OMIM:611638
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Microcephaly, Cerebral cortical atrophy, Holoprosencephaly, Aplasia/Hypoplasia o... ORPHA:2570
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Distal Deletion 13Q
Anencephaly, Encephalocele, Microcephaly, Holoprosencephaly, Aplasia/Hypoplasia of the corpus cal... ORPHA:1590
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Meningocele ORPHA:588
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum... ORPHA:1908
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Holoprosencephaly, Absent septum pellucidum OMIM:601357
Hartsfield Syndrome
Lobar holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum, Encephalocele ORPHA:2117
Microtia-Anotia
Holoprosencephaly OMIM:600674
Lambotte Syndrome
Microcephaly, Semilobar holoprosencephaly OMIM:245552
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly ORPHA:293
Ring Chromosome 21 Syndrome
Microcephaly, Holoprosencephaly ORPHA:1445
Distal Monosomy 7Q36
Microcephaly, Holoprosencephaly ORPHA:1636
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Holoprosencephaly ORPHA:2165
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Thanatophoric Dysplasia Type 2
Hydrocephalus, Macrocephaly, Holoprosencephaly, Encephalocele ORPHA:93274
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:615433
Triploidy
Macrocephaly, Meningocele, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the corpus cal... ORPHA:3376
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Polymicrogyria, Microcephaly, Neonatal death, Aplasia/Hypoplasia of t... OMIM:619602
Monosomy 18P
Microcephaly, Holoprosencephaly ORPHA:1598
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Holoprosencephaly-Craniosynostosis Syndrome
Microcephaly, Holoprosencephaly ORPHA:2163
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Microtia
Holoprosencephaly ORPHA:83463
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Lissencephaly, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, Hypop... OMIM:253800
Solitary Median Maxillary Central Incisor
Microcephaly, Holoprosencephaly OMIM:147250
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:990
Agnathia-Otocephaly Complex
Holoprosencephaly, Agenesis of corpus callosum OMIM:202650
Joubert Syndrome 15
Exencephaly OMIM:614464
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Holoprosencephaly 14
Aqueductal stenosis, Macrocephaly, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker malforma... OMIM:619895
Otodental Dysplasia
Delayed eruption of teeth, Coloboma, Enamel hypoplasia, Pulp calcification, Taurodontia OMIM:166750
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum ORPHA:77298
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Microphthalmia/Coloboma 4
Coloboma OMIM:251505
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif... ORPHA:63259
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Polymicrogyria, Microcephaly, Holoprosencephaly, Agenesis of corpus... OMIM:264480
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short stature ORPHA:2776
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly ORPHA:250999
Holoprosencephaly 4
Semilobar holoprosencephaly OMIM:142946
Chromosome 1Q41-Q42 Deletion Syndrome
Microcephaly, Cerebellar hypoplasia, Holoprosencephaly OMIM:612530
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Hypoplasia of the corpus callosum, Semilobar holoprosencephaly, Microcephaly, Lobar holoprosencep... OMIM:618500
Microform Holoprosencephaly
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum ORPHA:280200
Intellectual Developmental Disorder, Autosomal Recessive 67
Short stature, Coloboma OMIM:618295
Holoprosencephaly 7
Semilobar holoprosencephaly, Macrocephaly, Alobar holoprosencephaly, Hydrocephalus, Microcephaly,... OMIM:610828
Isolated Exencephaly
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:563612
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Holoprosencephaly 3
Microcephaly, Holoprosencephaly OMIM:142945
Microphthalmia/Coloboma 6
Coloboma OMIM:613703
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hydrocephalus, Microcephaly, Holoprosencephaly, Umbilical hernia, Cerebellar hypop... ORPHA:2166
16P13.11 Microdeletion Syndrome
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum ORPHA:261236
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Mandibular prognathia, Short stature ORPHA:93950
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Holoprosencephaly, Agenesis of corpus callosum ORPHA:556955
Short-Rib Thoracic Dysplasia 12
Macrocephaly, Anencephaly, Hydrocephalus, Neonatal death, Holoprosencephaly OMIM:269860
Abruzzo-Erickson Syndrome
Short stature, Coloboma OMIM:302905
Frontonasal Dysplasia 1
Coloboma, Anterior basal encephalocele, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, C... OMIM:136760
49,Xxxxy Syndrome
Hypoplasia of the corpus callosum, Holoprosencephaly ORPHA:96264
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Mandibular prognathia, Short stature ORPHA:93945
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Mandibular prognathia, Short stature, Hypoplasia of the maxilla OMIM:601216
Arachnoid Cyst
Encephalocele, Hydrocephalus, Posterior fossa cyst at the fourth ventricle, Holoprosencephaly, Mi... ORPHA:2356
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Short stature OMIM:156510
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Death in childhood, Agenesis of corpus callosum, Umbilical hernia OMIM:618651
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Coloboma, Iris coloboma OMIM:610023
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Focal polymicrogyria, Aplasia/Hypo... OMIM:612651
Trisomy 18
Anencephaly, Spina bifida, Microcephaly, Holoprosencephaly, Aplasia/Hypoplasia of the corpus call... ORPHA:3380
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Lissencephaly, Optic nerve hypoplasia, Polym... ORPHA:468631
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Optic disc coloboma OMIM:241310
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
Meckel Syndrome 14
Occipital encephalocele, Holoprosencephaly OMIM:619879
Holoprosencephaly
Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Hydrocephalus, Branchial ... ORPHA:2162
Hartsfield Syndrome
Semilobar holoprosencephaly, Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Age... OMIM:615465
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia OMIM:246560
Biemond Syndrome Type 2
Delayed puberty, Coloboma, Short stature ORPHA:141333
Jacobsen Syndrome
Hydrocephalus, Macrocephaly, Holoprosencephaly, Microcephaly OMIM:147791
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature OMIM:608154
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Malar flattening, Short stature ORPHA:261295
Abruzzo-Erickson Syndrome
Coloboma, Short stature, Chorioretinal coloboma, Malar flattening, Iris coloboma ORPHA:921
Monosomy 13Q14
Microcephaly, Holoprosencephaly, Hypoplasia of the corpus callosum ORPHA:1587
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla OMIM:618302
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Alobar holoprosencephaly, Optic nerve hypoplasia, Septo-optic dyspla... OMIM:301043
Mosaic Variegated Aneuploidy Syndrome
Dandy-Walker malformation, Microcephaly, Holoprosencephaly, Aplasia/Hypoplasia of the corpus call... ORPHA:1052
Genitourinary And/Or Brain Malformation Syndrome
Secondary microcephaly, Dysplastic corpus callosum, Macrocephaly, Polymicrogyria, Holoprosencepha... OMIM:618820
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:397973
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Short stature ORPHA:85279
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:1248
Verheij Syndrome
Retrognathia, Coloboma, Short stature, Growth delay, Intrauterine growth retardation, Branchial cyst OMIM:615583
Holoprosencephaly 9
Thin corpus callosum, Abnormal cortical gyration, Alobar holoprosencephaly, Hydrocephalus, Optic ... OMIM:610829
Holoprosencephaly 1
Alobar holoprosencephaly, Microcephaly, Ethmocephaly, Agenesis of corpus callosum, Cerebellar hyp... OMIM:236100
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia OMIM:300676
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microcephaly, Holoprosencephaly ORPHA:3186
Pallister-Hall Syndrome
Neonatal death, Holoprosencephaly OMIM:146510
Orofaciodigital Syndrome Xiv
Hypoplasia of the corpus callosum, Occipital encephalocele, Cerebellar vermis hypoplasia, Dandy-W... OMIM:615948
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Encephalocele, Polymicrogyria, Pachygyria, Lissencephaly, Exencephaly ORPHA:2211
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Meckel Syndrome
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Microcephaly, Lobar holopro... ORPHA:564
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Short stature, Delayed eruption of teeth, Umbilical hernia ORPHA:915
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Steinfeld Syndrome
Holoprosencephaly OMIM:184705
Chromosome 13Q14 Deletion Syndrome
Hypoplasia of the corpus callosum, Holoprosencephaly, Agenesis of corpus callosum, Umbilical hern... OMIM:613884
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla ORPHA:1529
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Mandibular prognathia, Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:620157
Baraitser-Winter Syndrome 2
Short stature, Retrognathia, Coloboma OMIM:614583
Keipert Syndrome
Hypoplasia of the maxilla, Short stature ORPHA:2662
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Coloboma OMIM:167730
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Coloboma ORPHA:324416
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Holoprosencephaly 2
Semilobar holoprosencephaly, Alobar holoprosencephaly, Microcephaly, Holoprosencephaly, Agenesis ... OMIM:157170
Joubert Syndrome 16
Coloboma, Encephalocele OMIM:614465
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Hypoplasia of the maxilla, Dental malocclusion, Agenesis o... ORPHA:199306
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Micrognathia, Delayed eruption of primary teeth, Trismus OMIM:616367
Smith-Lemli-Opitz Syndrome
Hypoplasia of the corpus callosum, Global brain atrophy, Hydrocephalus, Dandy-Walker malformation... OMIM:270400
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:1540
Axenfeld-Rieger Syndrome, Type 2
Hypoplasia of the maxilla, Mandibular prognathia, Umbilical hernia OMIM:601499
Stickler Syndrome Type 1
Hypoplasia of the maxilla ORPHA:90653
Smith-Lemli-Opitz Syndrome
Biparietal narrowing, Microcephaly, Holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum,... ORPHA:818
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Short stature, Micrognathia, Intrauterine growth retardation, Birth le... OMIM:613804
Crouzon Syndrome
Hypoplasia of the maxilla, Iris coloboma ORPHA:207
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Micrognathia, Rhizomelia, Malar flattening OMIM:108721
Joubert Syndrome 22
Intrauterine growth retardation, Coloboma OMIM:615665
Frontorhiny
Encephalocele, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Basal encephalocele, Crani... ORPHA:391474
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Short stature 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
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Micrognathia ORPHA:776
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Abnormal dental enamel morphology, Mandibular prognathia, Hypoplasi... ORPHA:439822
Lowry-Maclean Syndrome
Retrognathia, Talon cusp, Hypoplasia of the maxilla, Growth delay, Micrognathia, Intrauterine gro... ORPHA:2409
Isolated Posterior Meningocele
Increased head circumference, Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocel... ORPHA:268810
Ring Chromosome 7 Syndrome
Microcephaly, Cerebral cortical atrophy, Holoprosencephaly ORPHA:1449
Pycnodysostosis
Rhizomelia, Disproportionate short-limb short stature, Obtuse angle of mandible, Persistence of p... ORPHA:763
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Short stature, Umbilical hernia ORPHA:2095
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Cohen Syndrome
Delayed puberty, Hypoplasia of the maxilla, Short stature, Micrognathia, Macrodontia of permanent... OMIM:216550
Charge Syndrome
Aqueductal stenosis, Dandy-Walker malformation, Microcephaly, Holoprosencephaly, Umbilical hernia... ORPHA:138
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia OMIM:301108
Oculodentodigital Dysplasia, Autosomal Recessive
Hypoplasia of the primary teeth, Delayed eruption of teeth, Hypoplasia of the maxilla, Hypoplasia... OMIM:257850
Proboscis Lateralis
Macrocephaly, Optic nerve hypoplasia, Abnormal corpus callosum morphology, Holoprosencephaly ORPHA:141099
Combined Pituitary Hormone Deficiencies, Genetic Forms
Optic nerve hypoplasia, Septo-optic dysplasia, Holoprosencephaly, Agenesis of corpus callosum, Ab... ORPHA:95494
Carpenter Syndrome 1
Spina bifida occulta, Persistence of primary teeth, Hypoplasia of the maxilla, Short stature, Mic... OMIM:201000
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Coloboma, Severe postnatal growth retardation ORPHA:2399
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla OMIM:218000
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia ORPHA:228396
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Prominent frontal sinuses, Persistence of primary teeth, Hypoplasia of the... OMIM:170390
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Short stature, Micrognathia, Intrauterine growth retardation, Birth le... OMIM:613805
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Short stature OMIM:614261
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Growth delay ORPHA:782
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Aniridia, Umbilical hernia ORPHA:1101
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Microcephaly, Semilobar holoprosencephaly, Hypoplasia of the corpus callosum OMIM:301044
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla OMIM:619142
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Short stature, Carious teeth, Hypoplasia of the maxilla, Hypop... ORPHA:1798
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia, Short stature ORPHA:1307
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Short stature, Micrognathia, Coloboma OMIM:617306
Cohen Syndrome
Delayed puberty, Hypoplasia of the maxilla, Short stature, Micrognathia, Intrauterine growth reta... ORPHA:193
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:245
Marshall Syndrome
Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Short stature, Micrognathia, Malar flatte... ORPHA:560
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Hypoplasia of the maxilla, Short stature, Micrognathia, Growth delay ORPHA:363417
Acrodysostosis 1 With Or Without Hormone Resistance
Disproportionate short-limb short stature, Delayed eruption of teeth, Mandibular prognathia, Hypo... OMIM:101800
Distal Deletion 19P
Hypoplasia of the maxilla, Umbilical hernia ORPHA:96129
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Short stature ORPHA:293939
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hypoplasia of the maxilla, Mandibular prognathia, Micrognathia, Short stature OMIM:300534
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Microcephaly, Semilobar holoprosencephaly OMIM:129900
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Postnatal growth retardation, Intrauterine growth retardation ORPHA:251061
Acrodysostosis
Hypoplasia of the maxilla, Mandibular prognathia, Short stature, Delayed eruption of teeth ORPHA:950
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly, Microcephaly, Umbilical hernia OMIM:107480
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia OMIM:608149
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Treacher-Collins Syndrome
Retrognathia, Encephalocele, Abnormal dental enamel morphology, Hypoplasia of the maxilla, Microg... ORPHA:861
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Delayed puberty, Mild short stature, Short stature OMIM:305400
Pallister-Hall Syndrome
Macrocephaly, Abnormal basal ganglia MRI signal intensity, Abnormal corpus callosum morphology, H... ORPHA:672
Andersen-Tawil Syndrome
Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxilla, Short statu... ORPHA:37553
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Short s... ORPHA:50814
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla ORPHA:481152
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Micrognathia, Hypoplasia of the premaxilla ORPHA:2975
Orofaciodigital Syndrome Ii
Agenesis of central incisor, Hypoplasia of the maxilla, Short stature, Micrognathia, Malar flatte... OMIM:252100
Geroderma Osteodysplasticum
Hypoplasia of the maxilla, Mandibular prognathia, Severe short stature, Malar flattening OMIM:231070
Coffin-Lowry Syndrome
Advanced eruption of teeth, Craniofacial hyperostosis, Delayed eruption of teeth, Hypoplasia of t... ORPHA:192
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla ORPHA:178303
Crouzon Syndrome
Hypoplasia of the maxilla, Mandibular prognathia OMIM:123500
Van Maldergem Syndrome 1
Hypoplasia of the maxilla, Growth delay, Micrognathia, Malar flattening, Dental malocclusion OMIM:601390
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia OMIM:105830
Pfeiffer Syndrome
Hypoplasia of the maxilla, Mandibular prognathia OMIM:101600
Martsolf Syndrome 1
Hypoplasia of the maxilla, Micrognathia, Short stature OMIM:212720
Meier-Gorlin Syndrome 3
Hypoplasia of the maxilla, Short stature, Micrognathia, Microretrognathia, Intrauterine growth re... OMIM:613803
Charge Syndrome
Microcephaly, Holoprosencephaly, Umbilical hernia OMIM:214800
Rapp-Hodgkin Syndrome
Hypoplasia of the maxilla, Carious teeth, Enamel hypoplasia, Short stature, Taurodontia OMIM:129400
Shprintzen-Goldberg Craniosynostosis Syndrome
Hypoplasia of the maxilla, Micrognathia, Dental malocclusion, Umbilical hernia OMIM:182212
Shprintzen-Goldberg Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Umbilical hernia ORPHA:2462
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:3044
Cowden Syndrome 5
Hypoplasia of the maxilla, Micrognathia OMIM:615108
Van Maldergem Syndrome 2
Hypoplasia of the maxilla, Growth delay, Micrognathia, Malar flattening, Dental malocclusion OMIM:615546
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Postnatal growth retardation, Hypoplasia of the anterior nasal spine, ... 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, Micrognathia, Short stature ORPHA:314679
Myhre Syndrome
Craniofacial hyperostosis, Mandibular prognathia, Hypoplasia of the maxilla, Severe short stature... ORPHA:2588
Ear-Patella-Short Stature Syndrome
Retrognathia, Mandibular aplasia, Hypoplasia of the maxilla, Growth delay, Micrognathia, Severe s... ORPHA:2554
Apert Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Delayed eruption of teeth ORPHA:87
Greenberg Dysplasia
Retrognathia, Large placenta, Rhizomelia, Disproportionate short-limb short stature, Severe short... OMIM:215140
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Micrognathia, Short stature, Delayed eruption of teeth OMIM:259600
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Delayed eruption of teeth OMIM:601812
Osteoglophonic Dysplasia
Rhizomelia, Delayed eruption of teeth, Eruption failure, Mandibular prognathia, Hypoplasia of the... OMIM:166250
Cowden Syndrome 1
Hypoplasia of the maxilla, Micrognathia OMIM:158350
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Cranium bifidum occultum, Hypoplasia of the frontal bone, Aplasia/Hypo... ORPHA:306542
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Proportionate short stature, Short stature, Umbilical hernia OMIM:608328
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Short stature, Proportionate short stature OMIM:277600
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Growth delay, Umbilical hernia ORPHA:920
Branchiooculofacial Syndrome
Postnatal growth retardation, Branchial anomaly, Retinal coloboma, Cleft of chin, Micrognathia, M... OMIM:113620
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Short stature ORPHA:794
Dyskeratosis Congenita
Hypoplasia of the maxilla, Carious teeth, Short stature, Intrauterine growth retardation, Taurodo... ORPHA:1775
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Hypoplasia of the maxilla ORPHA:238468
Branchioskeletogenital Syndrome
Mandibular prognathia, Abnormal dentin morphology, Hypoplasia of the maxilla, Carious teeth, Umbi... ORPHA:1299
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Postnatal growth retardation, Hypoplasia of the maxilla, Short stature, Micrognathia, Recurrent s... OMIM:213980
Elsahy-Waters Syndrome
Supernumerary tooth, Agenesis of incisor, Delayed eruption of teeth, Mandibular prognathia, Hypop... OMIM:211380
Rubinstein-Taybi Syndrome 1
Postnatal growth retardation, Retrognathia, Spina bifida occulta, Coloboma, Talon cusp, Spina bif... OMIM:180849
Barber-Say Syndrome
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Micrognathia, Dental... OMIM:209885
Meier-Gorlin Syndrome 1
Hypoplasia of the maxilla, Micrognathia, Birth length less than 3rd percentile, Intrauterine grow... OMIM:224690
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Cleft of chin, Malar flattening, Short stature OMIM:101400
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Malar flattening, Intrauterine g... OMIM:139210
Nablus Mask-Like Facial Syndrome
Hypoplasia of the maxilla, Retrognathia OMIM:608156
Goldberg-Shprintzen Syndrome
Hypoplasia of the maxilla OMIM:609460
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Retrognathia, Large placenta, Mandibular prognathia, Hypoplasia of ... ORPHA:96334
Van Den Ende-Gupta Syndrome
Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:600920
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla OMIM:106260
Bartsocas-Papas Syndrome 1
Hypoplasia of the maxilla, Micrognathia, Intrauterine growth retardation OMIM:263650
Microphthalmia With Limb Anomalies
Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the premaxilla, Short stature ORPHA:1106
Peters-Plus Syndrome
Postnatal growth retardation, Rhizomelia, Disproportionate short-limb short stature, Conical inci... OMIM:261540
Zttk Syndrome
Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature, Growth delay OMIM:617140
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplasia of the maxilla, Taurodontia OMIM:305100
Stickler Syndrome
Advanced eruption of teeth, Abnormal dental enamel morphology, Hypoplasia of the maxilla, Short s... ORPHA:828
Cutis Laxa, Autosomal Recessive, Type Iic
Hypoplasia of the maxilla, Mandibular prognathia, Malar flattening, Short stature OMIM:617402
Craniosynostosis And Dental Anomalies
Supernumerary tooth, Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla,... 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, Carious teeth, Malar flattening OMIM:604292
Floating-Harbor Syndrome
Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Growth delay, Short stature ORPHA:2044
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Aplastic zygomatic arch, Hypoplasia of the maxilla, Short stature, Micrognathia, In... OMIM:616462
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
Hypoplasia of the tooth germ, Eruption failure, Hypoplasia of the maxilla, Carious teeth, Short s... OMIM:182250
Craniofacial Microsomia 1
Occipital encephalocele, Branchial anomaly, Maxillozygomatic hypoplasia, Hypoplasia of the maxill... OMIM:164210
Primrose Syndrome
Delayed puberty, Increased size of the mandible, Hypoplasia of the maxilla, Short stature, Malar ... OMIM:259050
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Disproportionate short-trunk short stature OMIM:300106
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate, Mucoid extracellular matrix accumulation, Cardiomegaly, Descending thoracic ... ORPHA:91387
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Patent ductus arteriosus, Dextrocardia, Ventricular se... OMIM:619657
Loeys-Dietz Syndrome 6
Thoracic aortic aneurysm, Ventricular hypertrophy, High palate, Aortic tortuosity, Bifid uvula, U... OMIM:619656
Loeys-Dietz Syndrome
Micrognathia, Malar flattening ORPHA:60030

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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