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 1
Synonyms:
Madr1,  Madh1,  Smad 1

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 Smad1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Smad1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Gastric Cancer
Stomach cancer OMIM:613659
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 12
Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Lambert Syndrome
Ventricular septal defect, Hypospadias, Branchial anomaly ORPHA:1296
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Ovarian neoplasm, Prostate cancer, Neoplasm of the large intestine... ORPHA:157798
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Uterine leiomyosarcoma OMIM:114500
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Septopreoptic Holoprosencephaly
Rhombencephalosynapsis, Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalo... ORPHA:280195
Joubert Syndrome 40
Optic nerve hypoplasia, Molar tooth sign on MRI OMIM:619582
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Testicular atrophy, Decreased fertility OMIM:313200
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Abnormal brain... ORPHA:99852
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... OMIM:609583
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus, Abnormal brainstem m... ORPHA:1532
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
High palate, Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensit... OMIM:308700
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Joubert Syndrome 28
Optic disc pallor, Molar tooth sign on MRI OMIM:617121
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Molar tooth sign on MRI OMIM:614120
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomaly, Cryptorchidism ORPHA:1131
Joubert Syndrome 30
Dandy-Walker malformation, Superior cerebellar dysplasia, Molar tooth sign on MRI, Cerebellar atr... OMIM:617622
Meckel Syndrome, Type 10
Occipital encephalocele, Dilated fourth ventricle, Anencephaly, Cerebellar hypoplasia, Molar toot... OMIM:614175
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Agenesis of cerebellar vermis, Meningocele, Encephalocele, Molar toot... OMIM:611134
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... ORPHA:263665
Kallmann Syndrome With Spastic Paraplegia
High palate, Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonad... OMIM:308750
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI OMIM:619111
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Spo... ORPHA:1876
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Pr... ORPHA:206448
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Testicular seminoma, Abnormal stomach morphology, Hypogonadism ORPHA:281090
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal brainstem morphology ORPHA:411493
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Joubert Syndrome 7
Encephalocele, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem OMIM:611560
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Testicular atrophy OMIM:601163
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... ORPHA:2494
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormal cerebellum morphology, Hydrocephalus, Optic nerve hypoplasia, Occipital encephalocele, H... ORPHA:370959
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Cerebellar vermis hypoplasia, T... OMIM:610688
Inflammatory Bowel Disease (Crohn Disease) 30
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... OMIM:619079
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Gastric varix OMIM:613490
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Hepatocellular carcinom... OMIM:235200
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Hypospadias, Cryptorchidism ORPHA:435938
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Abnormal brainstem morphology, ... ORPHA:370022
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI OMIM:617127
Joubert Syndrome 17
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614615
Joubert Syndrome 8
Optic disc pallor, Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI OMIM:612285
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Hydrocephalus, Encephalocele, Dysgenesis of the cerebella... OMIM:608091
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Joubert Syndrome 18
Molar tooth sign on MRI OMIM:614815
Coach Syndrome 1
Aplasia/Hypoplasia of the cerebellar vermis, Occipital encephalocele, Optic disc pallor, Cerebell... OMIM:216360
Joubert Syndrome 35
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:618161
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecting the brainstem, Ab... ORPHA:98755
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Dysphagia, Hypogonadism OMIM:160900
Joubert Syndrome 1
Elongated superior cerebellar peduncle, Dysgenesis of the cerebellar vermis, Agenesis of cerebell... OMIM:213300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Ventricular septal de... ORPHA:453499
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:277170
Msh3-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Multiple gastric polyps, Stomach cancer, J... ORPHA:480536
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:608629
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI, Aganglionic ... ORPHA:2318
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Joubert Syndrome With Renal Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI, Aganglionic ... ORPHA:220497
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:255182
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Agenesis of cerebellar vermis, Abnormal brainstem morphology, Cerebellar vermis hy... ORPHA:163961
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Slc35A2-Cdg
Dandy-Walker malformation, Cerebellar atrophy, Abnormal midbrain morphology, Atrophy/Degeneration... ORPHA:356961
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Joubert Syndrome With Ocular Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI, Aganglionic ... ORPHA:220493
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Bilateral cryptorchidism, Pyloric stenosis ORPHA:314575
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619185
Sucrosuria, Hiatus Hernia And Mental Retardation
Hiatus hernia OMIM:272000
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Oral leukoplakia OMIM:613987
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Large intestinal polyposis, Duodenal polyposis, Adenocarcinoma of ... ORPHA:220460
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elongated superior cerebellar peduncle, Abnormal cerebellum morphology, Occipital encephalocele, ... ORPHA:397715
Joubert Syndrome 39
Occipital encephalocele, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619562
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis hypopl... OMIM:619306
Holoprosencephaly
Abnormal pulmonary valve morphology, Cryptorchidism, Hypoplasia of penis, Short neck, Tetralogy o... ORPHA:2162
Arima Syndrome
Occipital meningocele, Aplasia/Hypoplasia of the cerebellar vermis, Dilated fourth ventricle, Age... OMIM:243910
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Bronchogenic Cyst
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology ORPHA:2357
Harrod Syndrome
High palate, High, narrow palate, External genital hypoplasia, Hypospadias, Malrotation of small ... OMIM:601095
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Midline brainstem cleft, Hydrocephalus, Hypoplasia of the pons OMIM:617542
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Cryptorchidism ORPHA:2617
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Decreased serum testosterone con... ORPHA:465508
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia, Absent mesencephalon OMIM:601374
Muir-Torre Syndrome
Neoplasm of the liver, Salivary gland neoplasm, Endometrial carcinoma, Adenoma sebaceum, Colon ca... ORPHA:587
Bor Syndrome
Branchial cyst ORPHA:107
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Cystic hygroma, Branchial... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Cystic hygroma, Branchial... ORPHA:352665
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal... OMIM:300048
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Abnormal cerebellum morphology, Abnormal brainstem MRI signal intensity... ORPHA:68
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Dys... OMIM:157640
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Dysphagia, Diabetes insipidus OMIM:222300
Japanese Encephalitis
Abnormal pons morphology, Decreased motor nerve conduction velocity, Abnormal substantia nigra mo... ORPHA:79139
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect ORPHA:2260
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Cleft palate, Ele... OMIM:305400
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Abnormal mi... ORPHA:444072
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Hematochezia, Rectal prolapse,... OMIM:174900
Arnold-Chiari Malformation Type I
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Myelopathy, Abnormality of ... ORPHA:268882
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI OMIM:616546
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Abnormal pons morphology, Cerebellar cyst, Abnormal brainstem morph... ORPHA:370997
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Branchial fistula, Atrial septal defect, Truncus arteriosus ORPHA:261330
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:300573
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux ORPHA:98892
Scleroderma
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:801
Reynolds Syndrome
Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal reflux ORPHA:779
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia, Urethrovesical occlusion OMIM:226730
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:90291
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Webbed neck, Branchial fistula, Ventricular septal defect, Cryptorchidi... ORPHA:261337
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Joubert Syndrome 5
Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of cerebellar vermis, Thickened superior ce... OMIM:610188
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hepatocellular carcinoma, Esophageal varix, Gastric varix ORPHA:64743
Duplication Of The Pituitary Gland
Encephalocele, Abnormal midbrain morphology ORPHA:314621
Joubert Syndrome 38
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia OMIM:619476
Treacher-Collins Syndrome
Hypoplasia of penis, Cryptorchidism, Branchial fistula, Encephalocele, Rectovaginal fistula, Smal... ORPHA:861
Microgastria-Limb Reduction Defects Association
Gastroesophageal reflux, Bicornuate uterus, Intestinal malrotation, Splenogonadal fusion, Microga... OMIM:156810
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:616300
Microgastria-Limb Reduction Defect Syndrome
Anal atresia, Hiatus hernia, Gastroesophageal reflux, Intestinal malrotation, Tracheoesophageal f... ORPHA:2538
Lesch-Nyhan Syndrome
Dysphagia, Testicular atrophy OMIM:300322
47,Xyy Syndrome
Hydrocephalus, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Abnormal brainstem morp... ORPHA:8
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... ORPHA:141127
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Abnormal stomach morphology, Intussusception, Abnormal duodenum ... ORPHA:512
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Gastric ulcer, Duodenal ulcer, Esophageal ulceration OMIM:618372
Wolfram Syndrome 2
Oligomenorrhea, Primary amenorrhea, Gastric ulcer, Diabetes mellitus OMIM:604928
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:2720
Gangliocytoma
Ganglioneuroma, Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:251937
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain OMIM:616202
Meckel Syndrome, Type 1
Hydrocephalus, Occipital encephalocele, Dilated fourth ventricle, Cerebellar hypoplasia, Anenceph... OMIM:249000
Orofaciodigital Syndrome Xiv
Holoprosencephaly, Cerebellar hypoplasia, Optic disc coloboma, Occipital encephalocele, Dandy-Wal... OMIM:615948
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:2754
Ulnar-Mammary Syndrome
Ectopic anus, Anal atresia, Hypoplasia of penis, Hypoplastic nipples, Pyloric stenosis, Breast ap... ORPHA:3138
Esophageal Atresia
Gastrointestinal carcinoma, Duodenal atresia, Gastroesophageal reflux, Cleft palate, Morphologica... ORPHA:1199
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Cleft palate, Micropenis, Pyloric stenosis, Midgut malrotation, Cryptorchidism OMIM:263750
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity ORPHA:88619
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis OMIM:619479
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Ganglioneuroma, Abnormal autonomic nervous system physiology, Abnormal midbrain morphology ORPHA:293987
Branchiooculofacial Syndrome
Hypospadias, Short neck, Branchial anomaly, Cryptorchidism, Low posterior hairline OMIM:113620
X-Linked Intellectual Disability, Snyder Type
High palate, Testicular atrophy, Cleft palate, Hypospadias, Abnormality of the Leydig cells, Cryp... ORPHA:3063
Wilson Disease
Face of the giant panda sign, Decreased nerve conduction velocity OMIM:277900
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Urethral stricture, Intestinal atresia ORPHA:79403
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... ORPHA:273
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal autonomic nervous system physiology, Abnormal brainstem morp... ORPHA:93256
Witteveen-Kolk Syndrome
Male urethral meatus stenosis, Hypospadias, Branchial fistula, Unilateral cryptorchidism, Phimosi... OMIM:613406
Leigh Syndrome With Cardiomyopathy
Optic atrophy, Abnormal brainstem morphology ORPHA:70474
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Short neck, Spina bifida occulta, Ventricular septal defect, Compl... ORPHA:508488
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Hardikar Syndrome
Hematemesis, Intestinal malrotation, Bilateral cleft lip and palate, Gastric varix, Esophageal va... OMIM:301068
Ulnar-Mammary Syndrome
Anal atresia, Bicornuate uterus, Imperforate hymen, Micropenis, Axillary apocrine gland hypoplasi... OMIM:181450
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, H... ORPHA:93111
Williams Syndrome
Cholelithiasis, Abnormal gastric mucosa morphology, Precocious puberty, Type II diabetes mellitus... ORPHA:904
Craniofacial Microsomia
Ventricular septal defect, Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly OMIM:164210
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia, Abnormality of the urethra ORPHA:158684
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Molar tooth sign on MRI, Dandy-Walker malformation ORPHA:434179
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Abnormal brainstem morphology ORPHA:464311
Viss Syndrome
High palate, Chronic gastritis, Gastroesophageal reflux, High, narrow palate, Macroglossia, Intes... OMIM:619472
Semilobar Holoprosencephaly
Neural tube defect, Abnormality of the autonomic nervous system, Hydrocephalus, Abnormal brainste... ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Abnormality of the autonomic nervous system, Hydrocephalus, Abnormal brainste... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Abnormality of the autonomic nervous system, Hydrocephalus, Abnormal brainste... ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Abnormality of the autonomic nervous system, Hydrocephalus, Abnormal brainste... ORPHA:93924

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 Smad1

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 Smad1.

No publications found that use IMPC mice or data for Smad1.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Smad1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Smad1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter