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.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Mucoid extracellular matrix accumulation, Abdominal aortic aneurysm, Patent ductus arteriosus, Ao... ORPHA:91387
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Thoracic aortic aneurysm, Patent ductus arteriosus, Atrial septal defect, Dextrotran... OMIM:619657
Loeys-Dietz Syndrome 6
High palate, Abdominal aortic aneurysm, Thoracic aortic aneurysm, Ventricular hypertrophy 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
Microcephaly, Holoprosencephaly, Cerebral cortical atrophy ORPHA:2523
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Microcephaly, Holoprosencephaly OMIM:306990
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Dandy-Walker malformation, Hydrocephalus, Macrocephaly, Holoprosencephaly OMIM:617967
Mental retardation, x-linked, syndromic, Turner type
Macrocephaly, Holoprosencephaly OMIM:300706
Holoprosencephaly 5
Semilobar holoprosencephaly, Central diabetes insipidus, Lobar holoprosencephaly, Microcephaly, S... OMIM:609637
Acalvaria
Holoprosencephaly, Spina bifida, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:945
Vissers-Bodmer Syndrome
Holoprosencephaly, Decreased head circumference OMIM:619033
Holoprosencephaly 11
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum OMIM:614226
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Aplasia/Hypoplasia of the corpus callosum, Hydranencephaly, Micr... ORPHA:2570
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly OMIM:611638
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueduct... ORPHA:2182
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Microcephaly, Holoprosencephaly, Encephal... ORPHA:1590
Holoprosencephaly, Recurrent Infections, And Monocytosis
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum OMIM:610680
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Chromosome 1Q41-Q42 Deletion Syndrome
Microcephaly, Holoprosencephaly OMIM:612530
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Absent septum pellucidum, Holoprosencephaly OMIM:601357
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly ORPHA:293
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Spinal dysraphism, Microcephaly, Hydrocep... ORPHA:1908
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Holoprosencephaly, Abnormality of the diencephalon ORPHA:2165
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Meningocele, Hydrocephalus ORPHA:588
Hartsfield Syndrome
Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Encephalocele ORPHA:2117
Microtia-Anotia
Holoprosencephaly OMIM:600674
Lambotte Syndrome
Semilobar holoprosencephaly, Microcephaly OMIM:245552
Ring Chromosome 21 Syndrome
Microcephaly, Holoprosencephaly ORPHA:1445
Distal Monosomy 7Q36
Microcephaly, Holoprosencephaly ORPHA:1636
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Microcephaly, Aplasia/Hypoplasia of the pyramidal tract, Neonatal dea... OMIM:619602
Thanatophoric Dysplasia Type 2
Macrocephaly, Holoprosencephaly, Encephalocele, Hydrocephalus ORPHA:93274
Solitary Median Maxillary Central Incisor
Microcephaly, Holoprosencephaly, Decreased response to growth hormone stimulation test, Anterior ... OMIM:147250
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:615433
Holoprosencephaly-Craniosynostosis Syndrome
Microcephaly, Holoprosencephaly ORPHA:2163
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Monosomy 18P
Microcephaly, Holoprosencephaly ORPHA:1598
Microtia
Holoprosencephaly ORPHA:83463
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele,... ORPHA:1528
Triploidy
Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Macrocephaly, Holoprosencephaly, Mening... ORPHA:3376
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:990
Otodental Dysplasia
Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification, Coloboma, Taurodontia OMIM:166750
Mental Retardation Syndrome, Belgian Type
Coloboma, Mandibular prognathia OMIM:249599
Isolated Exencephaly
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Holoprosencephaly, Posterior pituitar... ORPHA:563612
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:77298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agyria, Hypoplasia of the pyramidal tract, Agenesis of corpus callosum, Cerebellar hypoplasia, Hy... OMIM:253800
Microphthalmia, Isolated, With Coloboma 4
Coloboma OMIM:251505
Iniencephaly
Myelomeningocele, Anencephaly, Spinal dysraphism, Dandy-Walker malformation, Spina bifida, Lissen... ORPHA:63259
Pseudotrisomy 13 Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Polymicrogyria, Hydrocephalus, ... OMIM:264480
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Holoprosencephaly 4
Semilobar holoprosencephaly OMIM:142946
Agnathia-Otocephaly Complex
Holoprosencephaly, Agenesis of corpus callosum OMIM:202650
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly ORPHA:250999
Microform Holoprosencephaly
Panhypopituitarism, Microcephaly, Holoprosencephaly, Agenesis of corpus callosum ORPHA:280200
Treacher Collins Syndrome 3
Coloboma, Malar flattening, Micrognathia OMIM:248390
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short stature ORPHA:2776
Holoprosencephaly 3
Microcephaly, Holoprosencephaly, Central diabetes insipidus OMIM:142945
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla, Short stature OMIM:259610
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
16P13.11 Microdeletion Syndrome
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum ORPHA:261236
Microphthalmia, Isolated, With Coloboma 6
Coloboma OMIM:613703
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
49,Xxxxy Syndrome
Holoprosencephaly, Hypoplasia of the corpus callosum, Arrhinencephaly ORPHA:96264
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Short stature, Mandibular prognathia ORPHA:93950
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla OMIM:608432
Holoprosencephaly 7
Semilobar holoprosencephaly, Fusion of the left and right thalami, Agenesis of corpus callosum, P... OMIM:610828
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cerebellar hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Um... ORPHA:2166
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Cranium bifidum occultum, Hypoplasia of the maxilla, Coloboma, Anter... OMIM:136760
Abruzzo-Erickson Syndrome
Coloboma, Short stature OMIM:302905
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Death in childhood, Umbil... OMIM:618651
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Neonatal death, Macrocephaly, Holoprosencephaly OMIM:269860
Arachnoid Cyst
Mild malformation of cortical development, Hydrocephalus, Holoprosencephaly, Posterior fossa cyst... ORPHA:2356
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Amelogenesis imperfecta, Short stature, Mandibular prognathia OMIM:601216
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Short stature OMIM:156510
Endocrine-Cerebroosteodysplasia
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Hydrocephalus OMIM:612651
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Holoprosencephaly, Agenesis of corpus callosum ORPHA:556955
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Short stature, Mandibular prognathia ORPHA:93945
Holoprosencephaly 2
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Anterior pituitary agenesis, Ho... OMIM:157170
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Lobar holoprosencephaly, Op... ORPHA:468631
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Treacher Collins Syndrome 2
Coloboma, Micrognathia OMIM:613717
Holoprosencephaly 9
Abnormal cortical gyration, Anterior pituitary hypoplasia, Panhypopituitarism, Optic nerve hypopl... OMIM:610829
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Short stature, Iris coloboma OMIM:610023
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Trisomy 18
Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Microcephaly, Spina bifida, Holoprosencep... ORPHA:3380
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Optic disc coloboma, Malar flattening, Micrognathia OMIM:241310
Holoprosencephaly
Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Anterior hypopituitarism, Branchia... ORPHA:2162
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Microcephaly, Lobar holoprosencephaly OMIM:614701
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Microcephaly, Dandy-Walker malformation, Agenesis of cerebellar vermi... OMIM:611134
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Septo-optic dysplasia, Colpocephaly, Agenesis of corpus callosum, Op... OMIM:301043
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia OMIM:246560
Biemond Syndrome Type 2
Coloboma, Short stature, Delayed puberty ORPHA:141333
Jacobsen Syndrome
Microcephaly, Macrocephaly, Holoprosencephaly, Hydrocephalus OMIM:147791
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Short stature, Intrauterine growth retardation OMIM:608154
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Short stature, Malar flattening ORPHA:261295
Pallister-Hall Syndrome
Hypothalamic hamartoma, Panhypopituitarism, Neonatal death, Holoprosencephaly, Decreased response... OMIM:146510
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Coloboma, Short stature, Malar flattening, Iris coloboma ORPHA:921
Monosomy 13Q14
Microcephaly, Holoprosencephaly, Hypoplasia of the corpus callosum ORPHA:1587
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria, Macrocepha... OMIM:618820
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Lissencephaly, Macrogyria, Exencephaly, Pachygyria, Polymicrogyria, E... ORPHA:2211
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla OMIM:618302
Hartsfield Syndrome
Microcephaly, Gonadotropin deficiency, Lobar holoprosencephaly, Agenesis of corpus callosum OMIM:615465
Steinfeld Syndrome
Holoprosencephaly OMIM:184705
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:397973
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microcephaly, Holoprosencephaly ORPHA:3186
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic anterior pituitary gland, Septo-optic dysplasia, Agenesis of corpus callosum, Anterior pi... ORPHA:95494
Mosaic Variegated Aneuploidy Syndrome
Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Dandy-Walker malformation, Holoprosencep... ORPHA:1052
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:1248
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Short stature ORPHA:85279
Microphthalmia, Syndromic 13
Coloboma, Short stature OMIM:300915
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Aarskog-Scott Syndrome
Umbilical hernia, Short stature, Hypoplasia of the maxilla, Delayed eruption of teeth ORPHA:915
Meckel Syndrome
Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Anencephaly, Microcephaly, Da... ORPHA:564
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Hypoplasia of the maxilla OMIM:618737
Baraitser-Winter Syndrome 2
Coloboma, Short stature, Retrognathia OMIM:614583
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla ORPHA:1529
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar hypoplasia, Microcephaly, Dandy-Walker malformation, Simplifi... OMIM:615948
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Coloboma ORPHA:324416
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia OMIM:300676
Holoprosencephaly 1
Agenesis of corpus callosum, Cerebellar hypoplasia, Ethmocephaly, Microcephaly, Alobar holoprosen... OMIM:236100
Joubert Syndrome 16
Coloboma, Encephalocele OMIM:614465
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Abnormality of dental eruption, Hypoplasia of the maxilla,... ORPHA:199306
Keipert Syndrome
Hypoplasia of the maxilla, Short stature ORPHA:2662
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:1540
Meier-Gorlin Syndrome 4
Intrauterine growth retardation, Micrognathia, Hypoplasia of the maxilla, Short stature, Birth le... OMIM:613804
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Delayed eruption of primary teeth, Trismus, Micrognathia OMIM:616367
Smith-Lemli-Opitz Syndrome
Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Microcephaly, Dandy-Walker ma... OMIM:270400
Stickler Syndrome Type 1
Hypoplasia of the maxilla ORPHA:90653
Axenfeld-Rieger Syndrome, Type 2
Hypoplasia of the maxilla, Umbilical hernia, Mandibular prognathia OMIM:601499
Crouzon Syndrome
Hypoplasia of the maxilla, Iris coloboma ORPHA:207
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Short stature, Malar flattening OMIM:109120
Frontorhiny
Hypoplastic frontal sinuses, Cranium bifidum occultum, Basal encephalocele, Hypoplasia of the max... ORPHA:391474
Joubert Syndrome 14
Coloboma, Malar flattening, Growth delay, Encephalocele OMIM:614424
Pde4D Haploinsufficiency Syndrome
Intrauterine growth retardation, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Abnor... ORPHA:439822
Atelosteogenesis, Type Iii
Rhizomelia, Malar flattening, Hypoplasia of the maxilla, Micrognathia OMIM:108721
Smith-Lemli-Opitz Syndrome
Biparietal narrowing, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Holoprosencephaly,... ORPHA:818
Joubert Syndrome 22
Coloboma, Intrauterine growth retardation OMIM:615665
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening ORPHA:93262
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Short stature, Malar flattening, Micrognathia ORPHA:79113
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Micrognathia ORPHA:776
Lowry-Maclean Syndrome
Intrauterine growth retardation, Growth delay, Micrognathia, Hypoplasia of the maxilla, Delayed e... ORPHA:2409
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Craniosynostosis And Dental Anomalies
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of teeth OMIM:614188
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Delayed eruption of teeth, Micrognathia OMIM:601812
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma, Micrognathia OMIM:617306
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Prominent frontal sinuses, Antegonial notching of mandible, Micrognathia, Hypo... OMIM:170390
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, Short stature, Delayed puberty, Macrodontia of permanent... OMIM:216550
Pycnodysostosis
Intrauterine growth retardation, Enamel hypoplasia, Rhizomelia, Carious teeth, Micrognathia, Hypo... ORPHA:763
Gorlin-Chaudhry-Moss Syndrome
Umbilical hernia, Short stature, Hypoplasia of the maxilla ORPHA:2095
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Hypoplasia of teeth, Micrognathia, Hypoplasia of the maxilla, Short st... OMIM:257850
Charge Syndrome
Anterior hypopituitarism, Microcephaly, Dandy-Walker malformation, Holoprosencephaly, Aplasia/Hyp... ORPHA:138
Facial Clefting, Oblique, 1
Coloboma OMIM:600251
Proboscis Lateralis
Macrocephaly, Holoprosencephaly, Optic nerve hypoplasia, Abnormal corpus callosum morphology ORPHA:141099
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla OMIM:218000
Acrocephalopolysyndactyly Type Iii
Hypoplasia of the maxilla, Malar flattening, Mandibular prognathia OMIM:101120
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Short stature OMIM:614261
Pallister-Hall Syndrome
Gonadotropin deficiency, Abnormal corpus callosum morphology, Hypothalamic hamartoma, Cerebellar ... ORPHA:672
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
Hypoplasia of the maxilla, Microretrognathia ORPHA:228396
Acrofacial Dysostosis, Cincinnati Type
Hypoplasia of the maxilla, Short stature, Micrognathia, Retrognathia OMIM:616462
Acrodysostosis
Hypoplasia of the maxilla, Short stature, Delayed eruption of teeth, Mandibular prognathia ORPHA:950
Ring Chromosome 7 Syndrome
Microcephaly, Holoprosencephaly, Cerebral cortical atrophy ORPHA:1449
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Short stature, Microretrognathia ORPHA:1307
Carpenter Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Short stature, Malar flattening, Spina bifida occulta, U... OMIM:201000
Meier-Gorlin Syndrome 5
Intrauterine growth retardation, Micrognathia, Hypoplasia of the maxilla, Short stature, Birth le... OMIM:613805
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla OMIM:167730
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Semilobar holoprosencephaly, Microcephaly, Hypoplasia of the corpus callosum OMIM:301044
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the maxilla, Umbilical hernia, Aniridia, Mandibular prognathia ORPHA:1101
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla OMIM:619142
Dysostosis, Stanescu Type
Carious teeth, Hypoplasia of the maxilla, Short stature, Abnormal dental enamel morphology, Hypop... ORPHA:1798
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Growth delay ORPHA:782
Acrodysostosis 1 With Or Without Hormone Resistance
Intrauterine growth retardation, Delayed eruption of teeth, Mild postnatal growth retardation, Hy... OMIM:101800
Townes-Brocks Syndrome 1
Microcephaly, Holoprosencephaly, Umbilical hernia, Hydrocephalus OMIM:107480
Geroderma Osteodysplasticum
Severe short stature, Malar flattening, Hypoplasia of the maxilla, Mandibular prognathia OMIM:231070
Temtamy Preaxial Brachydactyly Syndrome
Growth delay, Micrognathia, Hypoplasia of the maxilla, Short stature, Talon cusp ORPHA:363417
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Semilobar holoprosencephaly, Microcephaly, Decreased response to growth hormone stimulation test,... OMIM:129900
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Hypoplasia of the maxilla, Short stature OMIM:211370
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hypoplasia of the maxilla, Short stature, Micrognathia, Mandibular prognathia OMIM:300534
Cohen Syndrome
Intrauterine growth retardation, Micrognathia, Hypoplasia of the maxilla, Short stature, Hypoplas... ORPHA:193
Distal Monosomy 19P13.3
Hypoplasia of the maxilla, Umbilical hernia ORPHA:96129
Nager Syndrome
Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the zygomatic bone ORPHA:245
Marshall Syndrome
Hypoplastic frontal sinuses, Micrognathia, Hypoplasia of the maxilla, Short stature, Malar flatte... ORPHA:560
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Short stature ORPHA:293939
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Micrognathia, Retrognathia OMIM:608149
Charge Syndrome
Gonadotropin deficiency, Microcephaly, Umbilical hernia, Holoprosencephaly, Decreased response to... OMIM:214800
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Malar flattening, Branchial fistula, Abnormal dental ena... ORPHA:861
Martsolf Syndrome 1
Hypoplasia of the maxilla, Short stature, Micrognathia OMIM:212720
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Mohr Syndrome
Agenesis of central incisor, Micrognathia, Hypoplasia of the maxilla, Short stature, Malar flatte... OMIM:252100
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Carious teeth, Hypoplasia of teeth, Hypoplasia of the maxilla, Short s... ORPHA:50814
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Short stature, Mild short stature, Delayed puberty OMIM:305400
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Hypoplasia of the maxilla, Short stature, A... ORPHA:192
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla ORPHA:178303
Andersen-Tawil Syndrome
Growth delay, Micrognathia, Hypoplasia of the maxilla, Short stature, Abnormality of dental color... ORPHA:37553
Crouzon Syndrome
Hypoplasia of the maxilla, Mandibular prognathia OMIM:123500
Van Maldergem Syndrome 2
Growth delay, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Dental malocclusion OMIM:615546
Van Maldergem Syndrome 1
Growth delay, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Dental malocclusion OMIM:601390
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia OMIM:105830
Meier-Gorlin Syndrome 3
Intrauterine growth retardation, Micrognathia, Hypoplasia of the maxilla, Short stature, Microret... OMIM:613803
Pfeiffer Syndrome
Hypoplasia of the maxilla, Mandibular prognathia OMIM:101600
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Subaortic Stenosis--Short Stature Syndrome
Hypoplasia of the maxilla, Malar flattening, Growth delay OMIM:271960
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Micrognathia OMIM:309520
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:3044
Shprintzen-Goldberg Syndrome
Hypoplasia of the maxilla, Umbilical hernia, Micrognathia, Retrognathia ORPHA:2462
Cowden Syndrome 5
Hypoplasia of the maxilla, Micrognathia OMIM:615108
Nablus Mask-Like Facial Syndrome
Hypoplasia of the maxilla, Retrognathia OMIM:608156
Shprintzen-Goldberg Craniosynostosis Syndrome
Hypoplasia of the maxilla, Umbilical hernia, Micrognathia, Dental malocclusion OMIM:182212
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla ORPHA:481152
Rapp-Hodgkin Syndrome
Hypoplasia of the maxilla, Short stature OMIM:129400
Cowden Syndrome 6
Hypoplasia of the maxilla, Micrognathia OMIM:615109
Brachytelephalangic Chondrodysplasia Punctata
Proportionate short stature, Postnatal growth retardation, Hypoplasia of the maxilla, Hypoplasia ... ORPHA:79345
Myhre Syndrome
Intrauterine growth retardation, Severe short stature, Craniofacial hyperostosis, Hypoplasia of t... ORPHA:2588
Cerebrofacioarticular Syndrome
Hypoplasia of the maxilla, Short stature, Micrognathia ORPHA:314679
Microphthalmia, Isolated 8
Coloboma OMIM:615113
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Short stature, Delayed eruption of teeth, Micrognathia OMIM:259600
Ear-Patella-Short Stature Syndrome
Intrauterine growth retardation, Severe short stature, Growth delay, Micrognathia, Mandibular apl... ORPHA:2554
Apert Syndrome
Hypoplasia of the maxilla, Delayed eruption of teeth, Mandibular prognathia ORPHA:87
Greenberg Dysplasia
Rhizomelia, Micrognathia, Hypoplasia of the maxilla, Large placenta, Severe short-limb dwarfism, ... OMIM:215140
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, Hypoplasia of the frontal b... ORPHA:306542
Cowden Syndrome 1
Hypoplasia of the maxilla, Micrognathia OMIM:158350
Branchiooculofacial Syndrome
Intrauterine growth retardation, Iris coloboma, Cleft of chin, Micrognathia, Malar flattening, Po... OMIM:113620
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla OMIM:106260
Weill-Marchesani Syndrome 2
Proportionate short stature, Short stature, Umbilical hernia, Hypoplasia of the maxilla OMIM:608328
Weill-Marchesani Syndrome 1
Proportionate short stature, Short stature, Hypoplasia of the maxilla OMIM:277600
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Short stature ORPHA:794
Branchioskeletogenital Syndrome
Carious teeth, Abnormal dentin morphology, Hypoplasia of the maxilla, Mandibular prognathia, Umbi... ORPHA:1299
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Umbilical hernia, Growth delay, Hypoplasia of the zygomatic bone ORPHA:920
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Postnatal growth retardation, Short stature, Hypoplasia of the maxilla, Micrognathia OMIM:213980
Van Den Ende-Gupta Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:600920
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Sinusitis ORPHA:238468
Meier-Gorlin Syndrome 1
Hypoplasia of the maxilla, Birth length less than 3rd percentile, Intrauterine growth retardation... OMIM:224690
Elsahy-Waters Syndrome
Delayed eruption of teeth, Hypoplasia of the maxilla, Malar flattening, Mandibular prognathia, De... OMIM:211380
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Short stature, Malar flattening, Cleft of chin OMIM:101400
Goldberg-Shprintzen Syndrome
Hypoplasia of the maxilla OMIM:609460
Dyskeratosis Congenita
Intrauterine growth retardation, Carious teeth, Hypoplasia of the maxilla, Short stature, Taurodo... ORPHA:1775
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Short stature, Arrhinencep... ORPHA:1106
Myhre Syndrome
Intrauterine growth retardation, Hypoplasia of the maxilla, Short stature, Malar flattening, Mand... OMIM:139210
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Intrauterine growth retardation, Growth delay, Micrognathia, Spinal dysraphism, Large placenta, S... ORPHA:96334
Peters-Plus Syndrome
Agenesis of maxillary lateral incisor, Intrauterine growth retardation, Rhizomelia, Iris coloboma... OMIM:261540
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Growth delay, Micrognathia, Hypoplasia of the maxilla, Coloboma, Short stature... OMIM:180849
Zttk Syndrome
Hypoplasia of the maxilla, Growth delay, Short stature, Intrauterine growth retardation OMIM:617140
Bartsocas-Papas Syndrome 1
Hypoplasia of the maxilla, Intrauterine growth retardation, Micrognathia OMIM:263650
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplasia of the maxilla, Taurodontia OMIM:305100
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Aniridia OMIM:180500
Stickler Syndrome
Micrognathia, Hypoplasia of the maxilla, Short stature, Malar flattening, Abnormal dental enamel ... ORPHA:828
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Malar flattening, Carious teeth OMIM:604292
Floating-Harbor Syndrome
Carious teeth, Growth delay, Hypoplasia of the maxilla, Short stature, Persistence of primary teeth ORPHA:2044
Singleton-Merten Syndrome 1
Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Hypoplasia of the maxilla, Short s... OMIM:182250
Aarskog Syndrome, Autosomal Dominant
Hypoplasia of the maxilla, Mild short stature OMIM:100050
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Proportionate short stature, Hypoplasia of the maxilla, Intrauterine growth retardation ORPHA:500150
Craniofacial Microsomia
Occipital encephalocele, Maxillozygomatic hypoplasia, Micrognathia, Hypoplasia of the maxilla, Ma... OMIM:164210
Primrose Syndrome
Hypoplasia of the maxilla, Short stature, Malar flattening, Increased size of the mandible OMIM:259050
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Disproportionate short-trunk short stature OMIM:300106
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Mucoid extracellular matrix accumulation, Abdominal aortic aneurysm, Patent ductus arteriosus, Ao... ORPHA:91387
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Thoracic aortic aneurysm, Patent ductus arteriosus, Atrial septal defect, Dextrotran... OMIM:619657
Loeys-Dietz Syndrome 6
High palate, Abdominal aortic aneurysm, Thoracic aortic aneurysm, Ventricular hypertrophy 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.

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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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