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,  Smad 1,  Madh1

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
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Gastric Cancer
Stomach cancer OMIM:613659
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 12
Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Male hypogonadism, Bilateral breast hypoplasia, Azoospermia, Oli... ORPHA:52901
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Lambert Syndrome
Hypospadias, Branchial anomaly, Ventricular septal defect ORPHA:1296
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Prostate cancer, Ovarian neoplasm, Colorectal polyp... ORPHA:157798
Colorectal Cancer
Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma OMIM:114500
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Testicular atrophy, Decreased fertility OMIM:313200
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials, Abnormal brain... ORPHA:99852
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:609583
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Globozoospermia, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Hydr... ORPHA:1532
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft palate OMIM:137215
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology ORPHA:280195
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Joubert Syndrome 28
Molar tooth sign on MRI, Optic disc pallor OMIM:617121
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superior cerebellar dyspl... OMIM:617622
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:614120
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, Branchial anomaly, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis ORPHA:1131
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality of the gastric mucosa, Colonic ... ORPHA:263665
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal midbrain morphology, Peripheral demyelin... ORPHA:206448
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia OMIM:619111
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Abnormal stomach morphology, Cryptorchidism, Testicular seminoma ORPHA:281090
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Intestinal malrotation OMIM:601163
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal brainstem morphology ORPHA:411493
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Joubert Syndrome 16
Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Ménétrier Disease
Multiple gastric polyps, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroesopha... ORPHA:2494
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Ileitis, Protein-losing enteropathy, Pancolitis, Gastritis, Abnormal int... OMIM:619079
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Hepatocellular carcinoma, Impotence, Testicular atrophy, Hypogonadotropi... OMIM:235200
Meckel Syndrome, Type 4
Anencephaly, Agenesis of cerebellar vermis, Meningocele, Molar tooth sign on MRI, Hydrocephalus, ... OMIM:611134
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI OMIM:617127
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis hypoplasia, Elon... ORPHA:370022
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Cerebellar cyst, Olivopontocerebellar hypoplasia, Cerebellar hypopla... ORPHA:370959
Joubert Syndrome 1
Hypoplasia of the brainstem, Brainstem dysplasia, Cerebellar vermis hypoplasia, Agenesis of cereb... OMIM:213300
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Hypospadias, Cryptorchidism, Branchial cyst ORPHA:435938
Joubert Syndrome 17
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614615
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Brainstem dysplasia, Agenesi... OMIM:608091
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Joubert Syndrome 18
Molar tooth sign on MRI OMIM:614815
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Anencephaly OMIM:614175
Joubert Syndrome 7
Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia OMIM:611560
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:608629
Myotonic Dystrophy 1
Hypogonadism, Dysphagia, Testicular atrophy, Cholelithiasis OMIM:160900
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Loss of Purkinje cells in the cerebellar vermis, Cerebellar a... ORPHA:98755
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:277170
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:255182
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Cryptorchidism, Atrial septal defect, Branchial anomaly, Ventricular septal defec... ORPHA:453499
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:610688
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Abnormal brainstem morphology ORPHA:79279
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia, Aprosencephaly, Absent mesencephalon OMIM:601374
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Agenesis of cerebellar vermis, Hydro... ORPHA:163961
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Aganglionic megacolon, Hydrocephalus, Cerebellar vermis hypoplasia ORPHA:2318
Slc35A2-Cdg
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dandy-Walker malformation, Abno... ORPHA:356961
Msh3-Related Attenuated Familial Adenomatous Polyposis
Multiple gastric polyps, Ovarian dermoid cyst, Neoplasm of the rectum, Uterine leiomyoma, Colorec... ORPHA:480536
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Aganglionic megacolon, Hydrocephalus, Cerebellar vermis hypoplasia ORPHA:220497
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Pyloric stenosis, Bilateral cryptorchidism ORPHA:314575
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Uterine leiomyoma, Colorectal polyposis, Adenomato... ORPHA:220460
Joubert Syndrome 9
Molar tooth sign on MRI OMIM:612285
Dubin-Johnson Syndrome
Abnormality of the gastric mucosa ORPHA:234
Joubert Syndrome 8
Molar tooth sign on MRI, Optic disc pallor OMIM:612291
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Sucrosuria, Hiatus Hernia And Mental Retardation
Hiatus hernia OMIM:272000
Coach Syndrome 1
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Optic disc pallor, Aplasia/Hypoplasia of t... OMIM:216360
Arima Syndrome
Hypoplasia of the brainstem, Brainstem dysplasia, Occipital meningocele, Agenesis of cerebellar v... OMIM:243910
Muir-Torre Syndrome
Salivary gland neoplasm, Endometrial carcinoma, Neoplasm of the liver, Adenoma sebaceum, Neoplasm... ORPHA:587
Harrod Syndrome
Cryptorchidism, Malrotation of small bowel, Aganglionic megacolon, External genital hypoplasia, H... OMIM:601095
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Midline brainstem cleft, Hypoplasia of the pons OMIM:617542
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Aganglionic megacolon, Hydrocephalus, Cerebellar vermis hypoplasia ORPHA:220493
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Cryptorchidism ORPHA:2617
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Meningocele, Abnormal cerebellum morphology,... ORPHA:397715
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hepatocellular carcinoma, Hypothyroidism, Decrease... ORPHA:465508
Holoprosencephaly
Cryptorchidism, Branchial anomaly, Ventricular septal defect, Spinal dysraphism, Abnormal pulmona... ORPHA:2162
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestinal hemorrhag... ORPHA:44890
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Rhombencephalosynapsis, Cerebellar vermis hypoplasia, Cerebellar hyp... OMIM:619306
Bronchogenic Cyst
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Epidermolysis Bullosa, Junctional, Herlitz Type
Pyloric stenosis OMIM:226700
Bor Syndrome
Branchial cyst ORPHA:107
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Wolfram Syndrome 1
Dysphagia, Hypothyroidism, Testicular atrophy, Diabetes insipidus, Diabetes mellitus OMIM:222300
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal midbrain morphology, Abnormal cerebellum morpho... ORPHA:68
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Cryptorchidism, Atrial septal defect, Branchial anomaly, Abnormal heart morpholog... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Cryptorchidism, Atrial septal defect, Branchial anomaly, Abnormal heart morpholog... ORPHA:352665
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Abnormal brainstem morphology, Hypoplasia of the pons ORPHA:300573
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Japanese Encephalitis
Decreased motor nerve conduction velocity, Abnormal midbrain morphology, Facial palsy, Abnormal s... ORPHA:79139
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Dysphagia, Primary amenorrhea, Testicular atrophy, Secondary amen... OMIM:157640
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Rectal prolapse, Duodenal adenocarcinoma,... OMIM:174900
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the brainstem, Abnormal midbrain morphology, Cerebellar hypoplasia, Inferior vermis... ORPHA:444072
Hemifacial Microsomia
Tetralogy of Fallot, Branchial anomaly, Ventricular septal defect OMIM:164210
Scleroderma
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Abno... ORPHA:801
Reynolds Syndrome
Dysphagia, Xerostomia, Gastroesophageal reflux, Abnormality of the gastric mucosa ORPHA:779
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst ORPHA:2260
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar cyst, Abnormal pons morphology, Abnormal brainstem morphology, Cerebellar vermis hypop... ORPHA:370997
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:616546
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux ORPHA:98892
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Dysp... ORPHA:90291
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Ventricular septal defect, Branchial fistula, Webbed neck, Tricuspid valve prolap... ORPHA:261337
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacolon, Microgast... OMIM:156810
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Cleft palate, Bifid uvula, High palate, Pyloric stenosis, Precocious puberty ORPHA:96184
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis OMIM:617219
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Pyloric stenosis, Hypospadias OMIM:218350
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Atrial septal defect, Truncus arteriosus, Ventricular septal defect ORPHA:261330
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
47,Xyy Syndrome
Cerebellar dysplasia, Abnormal brainstem morphology, Hydrocephalus, Dysgenesis of the cerebellar ... ORPHA:8
Lesch-Nyhan Syndrome
Dysphagia, Testicular atrophy OMIM:300322
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Perineal fistula, Gastroesophageal reflux, Intestinal malrotation, Es... ORPHA:2538
Treacher-Collins Syndrome
Cryptorchidism, Branchial fistula, Scrotal hypoplasia, Rectovaginal fistula, Hypoplasia of penis ORPHA:861
Joubert Syndrome 5
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Aplasia/Hypoplasia of the cerebe... OMIM:610188
Myopathy, Centronuclear, X-Linked
High palate, Cryptorchidism, Pyloric stenosis OMIM:310400
Arnold-Chiari Malformation Type I
Brain stem compression, Arnold-Chiari type I malformation, Cranial nerve compression, Abnormality... ORPHA:268882
Trisomy 18P
High, narrow palate, Pyloric stenosis, Bilateral cryptorchidism ORPHA:1715
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Morphological abnormality of the gastrointestin... ORPHA:141127
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Abnormal gallbladder ... ORPHA:512
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Hydrocephalus ORPHA:2720
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:616300
Gangliocytoma
Abnormal cerebellum morphology, Abnormal brainstem morphology, Ganglioneuroma ORPHA:251937
Duplication Of The Pituitary Gland
Abnormal midbrain morphology ORPHA:314621
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Nephrotic Syndrome, Type 1
Pyloric stenosis, Gastroesophageal reflux OMIM:256300
Ulnar-Mammary Syndrome
Cryptorchidism, Abnormality of the uterus, Breast aplasia, Hypoplastic nipples, Ectopic anus, Ana... ORPHA:3138
Postaxial Acrofacial Dysostosis
Cryptorchidism, Pyloric stenosis, Midgut malrotation, Cleft palate, Supernumerary nipple, Micropenis OMIM:263750
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Cerebellar vermis hypoplasia ORPHA:2754
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal autonomic nervous system physiology, Ganglioneuroma, Abnormal midbrain morphology ORPHA:293987
Esophageal Atresia
Gastrointestinal dysmotility, Esophagitis, Morphological abnormality of the gastrointestinal trac... ORPHA:1199
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology ORPHA:88619
Chronic Granulomatous Disease
Pyloric stenosis, Malabsorption, Tracheoesophageal fistula ORPHA:379
Branchiooculofacial Syndrome
Cryptorchidism, Low posterior hairline, Branchial anomaly, Hypospadias, Short neck OMIM:113620
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Abnormality of the Leydig cells, Hypospadias, Testicular atrophy, Cleft palate, H... ORPHA:3063
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Urethral stricture, Intestinal atresia ORPHA:79403
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology, Abnormal autonomic nervous system phys... ORPHA:93256
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Colon cancer, Hypergonadotropic hypogonadism, Endometrial ca... ORPHA:273
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Leigh Syndrome With Cardiomyopathy
Optic atrophy, Abnormal brainstem morphology ORPHA:70474
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Ulnar-Mammary Syndrome
Imperforate hymen, Anal stenosis, Breast hypoplasia, Axillary apocrine gland hypoplasia, Ectopic ... OMIM:181450
8Q24.3 Microdeletion Syndrome
Truncus arteriosus, Branchial cyst, Abnormal heart morphology, Complete atrioventricular canal de... ORPHA:508488
Orofaciodigital Syndrome Xiv
Holoprosencephaly, Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:615948
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Bicornuate uterus, Papillary cystadenoma of the epididymis, Hypospadias, Pyl... ORPHA:93111
Williams Syndrome
Cryptorchidism, Macroglossia, Hypothyroidism, Gastroesophageal reflux, Cholelithiasis, Polycystic... ORPHA:904
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
Abnormal brainstem morphology, Optic disc pallor ORPHA:464311
Alobar Holoprosencephaly
Abnormality of the autonomic nervous system, Abnormal brainstem morphology, Hydrocephalus, Neural... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormality of the autonomic nervous system, Abnormal brainstem morphology, Hydrocephalus, Neural... ORPHA:93926
Lobar Holoprosencephaly
Abnormality of the autonomic nervous system, Abnormal brainstem morphology, Hydrocephalus, Neural... ORPHA:93924
Semilobar Holoprosencephaly
Abnormality of the autonomic nervous system, Abnormal brainstem morphology, Hydrocephalus, Neural... ORPHA:220386

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.

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

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