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Gene: Smad5 MGI:1328787

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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 5
Synonyms:
MusMLP,  Madh5,  Smad 5

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Smad5 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 Smad5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Lambert Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Branchial anomaly, Intrauterine growth r... ORPHA:1296
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Gonadal dysgenesis OMIM:615041
Joubert Syndrome 15
Ambiguous genitalia, Micropenis, Exencephaly OMIM:614464
X-Linked Mandibulofacial Dysostosis
Short stature, Cryptorchidism, Branchial anomaly, High palate, Pulmonic stenosis, Webbed neck, Ab... ORPHA:1131
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Cleft palate, Growth delay,... OMIM:615583
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ... ORPHA:453499
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Short stature OMIM:609166
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Cryptorchidism, Hypospadias, Severe postnatal growth retardation ORPHA:435938
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef... ORPHA:2476
Holoprosencephaly
Encephalocele, Omphalocele, Hypoplasia of penis, Median cleft lip and palate, Ventricular septal ... ORPHA:2162
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature, Cleft palate ORPHA:50815
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Inguinal hernia, Ventricular septal defect, Short stature, High, narrow palate... ORPHA:261330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Bicuspid aortic valve, Ventricular septal defect, Intestinal ps... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Bicuspid aortic valve, Ventricular septal defect, Intestinal ps... ORPHA:352665
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Intestinal malrotation, Cleft palate, High palate, Bifid uvula OMIM:113650
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Palpebral edema, Cryptorchidism, Patent ductus arte... ORPHA:261337
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Exencephaly, Sh... ORPHA:2211
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Dehydration ORPHA:2260
Branchiootic Syndrome
Branchial fistula, Cleft palate ORPHA:52429
Bor Syndrome
Branchial cyst, Cleft palate ORPHA:107
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Hypoplasia of penis, Small scrotum, Cryptorchidism, Patent duct... ORPHA:861
Alg3-Cdg
Macroglossia, Neural tube defect, Cardiomyopathy, High palate, Abnormal uvula morphology ORPHA:79321
Blepharocheilodontic Syndrome 1
Neural tube defect, Anal atresia OMIM:119580
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Short stature, Polyhydramnios, Hydrocele testis, Ankyloglossia, Atri... OMIM:620186
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Hand muscle weakness, Quadriceps muscle weakness, Abnormal spinal c... ORPHA:99947
8Q24.3 Microdeletion Syndrome
Branchial cyst, Inguinal hernia, Infancy onset short-trunk short stature, Ventricular septal defe... ORPHA:508488
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Craniorachischisis
Omphalocele, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism... ORPHA:63260
Isolated Posterior Meningocele
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... ORPHA:268810
Iniencephaly
Encephalocele, Omphalocele, Rhizomelia, Spina bifida, Polyhydramnios, Myelomeningocele, Hydroceph... ORPHA:63259
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia, Rect... OMIM:600145
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology, Distal amyotrophy ORPHA:139578
Branchiooculofacial Syndrome
Hypospadias, Short neck, Malrotation of colon, Cryptorchidism, Pyloric stenosis, Postnatal growth... OMIM:113620
Witteveen-Kolk Syndrome
Branchial fistula, Inguinal hernia, Hypospadias, Unilateral cryptorchidism, Polyhydramnios, Phimo... OMIM:613406
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Clef... OMIM:164210
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology ORPHA:494
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure, Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Abnormal spinal cord morphology, Facial myokymia, Hamstring contractures ORPHA:139396
Solitary Bone Cyst
Abnormal spinal cord morphology, Muscular edema ORPHA:83468
Limb Body Wall Complex
Encephalocele, Diastasis recti, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, ... ORPHA:2369
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Inguinal hernia, Streak ovary, Hypospadias, Aganglionic megacolon, Sho... ORPHA:798
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Cleft palate, Abnormal heart morphology, Growth delay, Neural tube ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Cleft palate, Abnormal heart morphology, Growth delay, Neural tube ... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Cleft palate, Abnormal heart morphology, Growth delay, Neural tube ... ORPHA:93924
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Cleft palate, Abnormal heart morphology, Growth delay, Neural tube ... ORPHA:220386
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology, Flexion contracture of finger, Camptodactyly ORPHA:88628
Adrenomyeloneuropathy
Atrophy of the spinal cord, Abnormal spinal cord morphology, Dorsal column degeneration, Leg musc... ORPHA:139399
Tetrasomy 9P
Juxtaductal coarctation of the aorta, Myositis, Pericarditis, Raynaud phenomenon, Abnormal spinal... ORPHA:3310
Superficial Siderosis
Subarachnoid hemorrhage, Atrophy of the spinal cord, Abnormal spinal cord morphology, Lower limb ... ORPHA:247245
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Myelitis ORPHA:83597
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Facial palsy, Abnormal spinal cord morphology, Arrhythmia, Increased red blo... ORPHA:68
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Raynaud phenomenon, Abnormal spinal cord morphology, Vasculitis, Leu... ORPHA:289390
Mosaic Trisomy 20
Intrauterine growth retardation, Abnormal spinal cord morphology ORPHA:1724

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 Smad5

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 Smad5.

No publications found that use IMPC mice or data for Smad5.

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MGI Allele Allele Type Produced
Smad5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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