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 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
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 12
Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Deleted in azoospermia
Azoospermia OMIM:400003
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Lambert Syndrome
Branchial anomaly, Ventricular septal defect, Hypospadias ORPHA:1296
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Meckel Syndrome 13
Cerebellar hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Serrated Polyposis Syndrome
Ovarian neoplasm, Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Prostate... ORPHA:157798
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Ethmoidal encephalocele, Abnormal midbrain morpho... ORPHA:280195
Joubert Syndrome 40
Optic nerve hypoplasia, Molar tooth sign on MRI OMIM:619582
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Uterine leiomyosarcoma OMIM:114500
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy, Dysphagia OMIM:313200
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, El... OMIM:609583
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus, Abnormal brainstem m... ORPHA:1532
Joubert Syndrome 16
Dandy-Walker malformation, Molar tooth sign on MRI, Encephalocele OMIM:614465
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Pulmonic stenosis, Abnormal mitral valve morphology, Cryptorchidism ORPHA:1131
Joubert Syndrome 28
Molar tooth sign on MRI, Optic disc pallor OMIM:617121
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Meckel Syndrome, Type 4
Molar tooth sign on MRI, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker mal... OMIM:611134
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... ORPHA:263665
Hydrolethalus Syndrome 2
Hydrocephalus, Molar tooth sign on MRI, Anencephaly OMIM:614120
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Abnormal auditory ev... ORPHA:99852
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:617127
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Testicular seminoma, Hypogonadism ORPHA:281090
Joubert Syndrome 30
Dandy-Walker malformation, Superior cerebellar dysplasia, Cerebellar atrophy, Molar tooth sign on... OMIM:617622
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydrocephalus OMIM:619111
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Meckel Syndrome, Type 10
Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Dandy-Walker malformation, Dilated... OMIM:614175
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Abnormal midbrain morphology, Abnorma... ORPHA:206448
Joubert Syndrome 14
Optic atrophy, Molar tooth sign on MRI, Encephalocele, Meningocele, Cerebellar vermis hypoplasia,... OMIM:614424
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Joubert Syndrome 7
Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem, Encephalocele OMIM:611560
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... OMIM:619079
Joubert Syndrome 18
Occipital encephalocele, Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:614815
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Occipital encephalocele, Cerebellar cyst, Hydrocephalus, Optic nerve hypoplasia, A... ORPHA:370959
Joubert Syndrome 6
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Di... OMIM:610688
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... ORPHA:2494
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Testicular atrophy OMIM:601163
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal brainstem morphology ORPHA:411493
Verheij Syndrome
Short neck, Truncus arteriosus, Ventricular septal defect, Branchial cyst OMIM:615583
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Cryptorchidism, Branchial cyst, Hypospadias ORPHA:435938
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Joubert Syndrome 2
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... OMIM:608091
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, A... ORPHA:370022
Hemochromatosis, Type 1
Azoospermia, Hepatocellular carcinoma, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic... OMIM:235200
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Joubert Syndrome 9
Molar tooth sign on MRI, Encephalocele OMIM:612285
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI, Optic disc pallor OMIM:612291
Joubert Syndrome 1
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... OMIM:213300
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Coach Syndrome 1
Occipital encephalocele, Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Ap... OMIM:216360
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Branchial anomaly, Ventricular septal defect, Increased nuchal tra... ORPHA:453499
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:618161
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Myotonic Dystrophy 1
Cholelithiasis, Dysphagia, Testicular atrophy, Hypogonadism OMIM:160900
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:608629
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Aganglionic megacolon, Encephalocele, Cerebellar vermis hypoplasia, Hydr... ORPHA:2318
Slc35A2-Cdg
Dandy-Walker malformation, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Abno... ORPHA:356961
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Aganglionic megacolon, Encephalocele, Cerebellar vermis hypoplasia, Hydr... ORPHA:220497
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormal nerve conduction velocity, Abnormal brainstem morphology, Atrophy/Degener... ORPHA:98755
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism, Oral leukoplakia OMIM:618165
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:255182
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Aganglionic megacolon, Encephalocele, Cerebellar vermis hypoplasia, Hydr... ORPHA:220493
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Bilateral cryptorchidism ORPHA:314575
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Oral leukoplakia OMIM:613987
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated ... ORPHA:397715
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619185
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Hydrocephalus, Abnormal brainstem morpho... ORPHA:163961
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Dilated fourth ven... OMIM:619306
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Branchial anomaly, Ventricular septal defect, Tetralogy of Fa... ORPHA:2162
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Bor Syndrome
Branchial cyst ORPHA:107
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Hepatocellular carcinoma, Decreased libido, Infertility, Hypothyroidism, Di... ORPHA:465508
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Poorly formed metencephalon, Absent mesencephalon, Aprosencephaly OMIM:601374
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology ORPHA:300573
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Cryptorchidism, Increased nuchal translucency, Abnormal heart morphology, Cyst... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Cryptorchidism, Increased nuchal translucency, Abnormal heart morphology, Cyst... ORPHA:352665
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Arima Syndrome
Optic atrophy, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Brainstem dysplasia, Dilate... OMIM:243910
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Attenuated Familial Adenomatous Polyposis
Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar... ORPHA:220460
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Cleft palate, Elevated circulating follicle stimulatin... OMIM:305400
Japanese Encephalitis
Facial palsy, Abnormal midbrain morphology, Abnormal pons morphology, Decreased motor nerve condu... ORPHA:79139
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:467166
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Wolfram Syndrome 1
Diabetes insipidus, Hypothyroidism, Dysphagia, Diabetes mellitus, Testicular atrophy OMIM:222300
Cerebellar-Facial-Dental Syndrome
Inferior cerebellar vermis hypoplasia, Abnormal midbrain morphology, Hypoplasia of the pons, Cere... ORPHA:444072
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Fg Syndrome 3
Pyloric stenosis, Cryptorchidism OMIM:300406
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst ORPHA:2260
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Anencephaly, Cerebellar vermis hypoplasia, Hydrocephalus, Occipital meni... OMIM:616546
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Facial palsy, Abnormal medulla oblongata morphology, Abn... ORPHA:68
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Branchial fistula ORPHA:261330
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Cerebellar cyst, Abnormal brainstem morphology, Abnormal pons morph... ORPHA:370997
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux ORPHA:98892
Reynolds Syndrome
Abnormal gastric mucosa morphology, Dysphagia, Xerostomia, Gastroesophageal reflux ORPHA:779
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix OMIM:620367
Joubert Syndrome 5
Occipital encephalocele, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, Agenesi... OMIM:610188
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Webbed neck, Low posterior hairline, Cryptorchidism, Ventricular septal... ORPHA:261337
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Dysphagia,... OMIM:157640
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal telangiectas... ORPHA:90291
Hepatoportal Sclerosis
Gastric varix, Esophageal varix, Gastrointestinal hemorrhage, Hepatocellular carcinoma ORPHA:64743
Joubert Syndrome 38
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia OMIM:619476
Microgastria-Limb Reduction Defect Syndrome
Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Perineal fistula... ORPHA:2538
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation, Cerebellar hypoplasia OMIM:616300
Treacher-Collins Syndrome
Rectovaginal fistula, Encephalocele, Hypoplasia of penis, Small scrotum, Cryptorchidism, Branchia... ORPHA:861
Duplication Of The Pituitary Gland
Encephalocele, Abnormal midbrain morphology ORPHA:314621
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
47,Xyy Syndrome
Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morp... ORPHA:8
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Abnormal duodenum morphology, Abnormal stomach morphology, Intussusc... ORPHA:512
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Esophageal ulceration, Gastric ulcer OMIM:618372
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... ORPHA:141127
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Patent foramen ovale, Natal tooth, Right ventricular hypertrophy, Atrial septal defect, Branchial... OMIM:620186
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Occipital meningocele OMIM:277170
Lesch-Nyhan Syndrome
Testicular atrophy, Dysphagia OMIM:300322
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Spina bifida occulta, Truncus arteriosus, Dysplastic aortic valve,... ORPHA:508488
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:2720
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain OMIM:616202
Gangliocytoma
Abnormal cerebellum morphology, Ganglioneuroma, Abnormal brainstem morphology ORPHA:251937
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:2754
Esophageal Atresia
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Abnormal ... ORPHA:1199
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Dandy-Walker malf... OMIM:615948
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Dan... OMIM:249000
Ulnar-Mammary Syndrome
Breast aplasia, Hypoplasia of penis, Ectopic anus, Hypoplastic nipples, Anal atresia, Pyloric ste... ORPHA:3138
Postaxial Acrofacial Dysostosis
Midgut malrotation, Pyloric stenosis, Cleft palate, Micropenis, Cryptorchidism, Supernumerary nipple 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
Abnormal autonomic nervous system physiology, Ganglioneuroma, Abnormal midbrain morphology ORPHA:293987
Branchiooculofacial Syndrome
Hypospadias, Branchial anomaly, Low posterior hairline, Short neck, Cryptorchidism OMIM:113620
X-Linked Intellectual Disability, Snyder Type
Hypospadias, High palate, Abnormality of the Leydig cells, Cleft palate, Cryptorchidism, Testicul... ORPHA:3063
Witteveen-Kolk Syndrome
Hypospadias, Phimosis, Unilateral cryptorchidism, Microphallus, Male urethral meatus stenosis, Br... OMIM:613406
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor... ORPHA:273
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology, Abnormal autonomic nervous system physiology, Diffuse cerebellar a... ORPHA:93256
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Abnormal brainstem morphology, Cerebellar hypoplasia, Cerebellar atrophy OMIM:301310
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia ORPHA:79403
Wilson Disease
Face of the giant panda sign, Decreased nerve conduction velocity OMIM:277900
Hardikar Syndrome
Hematemesis, Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilater... OMIM:301068
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Aplasia/Hypoplasia of the pancreas, Hypospadias, Bicornuate uterus, Pyloric ... ORPHA:93111
Williams Syndrome
Peptic ulcer, Rectal prolapse, Cholelithiasis, Hypoplasia of penis, Gastroesophageal reflux, Trac... ORPHA:904
Craniofacial Microsomia 1
Branchial anomaly, Occipital encephalocele, Ventricular septal defect, Tetralogy of Fallot OMIM:164210
Ulnar-Mammary Syndrome
Breast hypoplasia, Anal stenosis, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperforate... OMIM:181450
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Dandy-Walker malformation, Molar tooth sign on MRI ORPHA:434179
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal brainstem morphology, Optic disc pallor ORPHA:464311
Viss Syndrome
High, narrow palate, Cleft soft palate, Gastroesophageal reflux, Chronic gastritis, High palate, ... OMIM:619472
Semilobar Holoprosencephaly
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Abnormality of the autonomic ne... ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Abnormality of the autonomic ne... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Abnormality of the autonomic ne... ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Abnormality of the autonomic ne... 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.

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

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