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

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 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
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Inguinal hernia, Ventricular septal defect, H... ORPHA:1296
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Gonadal dysgenesis OMIM:615041
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Joubert Syndrome 15
Micropenis, Ambiguous genitalia, Exencephaly OMIM:614464
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Cryptorchidism, Abnormal mitral valve morphology, Short stature, ... ORPHA:1131
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus, S... OMIM:615583
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst, Submucous cleft hard palate OMIM:609166
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Macroglossia, Abnormal heart morphology, Furrowed tongue, Intrauterine growth retard... ORPHA:453499
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Hypospadias, Branchial cyst, Cryptorchidism ORPHA:435938
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Gastroschisis, Ventricular septal defect, Ectopic anus, Spina bifida, Ane... ORPHA:2476
Branchiogenic Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst, Cleft palate ORPHA:50815
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Cryptorchidism, Median ... ORPHA:2162
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Branchial fistula, Ankyloglossia, Intrauterine growth retardation, Inguinal ... ORPHA:261330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Macroglossia, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseu... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Macroglossia, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseu... ORPHA:352665
Branchiootorenal Syndrome 1
Bifid uvula, Branchial fistula, Branchial cyst, Intestinal malrotation, High palate, Cleft palate OMIM:113650
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Branchial fistula, Palpebral edema, Cryptorchidism, Ventricular septal defect, Low p... ORPHA:261337
Fryns Microphthalmia Syndrome
Unicornuate uterus, Neural tube defect, Bilateral cleft palate OMIM:600776
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Bifid scrotum, Encephalocele, Exencephaly, Shawl scrotum, Hypospadias,... ORPHA:2211
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst, Dehydration ORPHA:2260
Branchiootic Syndrome
Branchial fistula, Cleft palate ORPHA:52429
Bor Syndrome
Branchial cyst, Cleft palate ORPHA:107
Treacher-Collins Syndrome
Small scrotum, Branchial fistula, Encephalocele, Cryptorchidism, Glossoptosis, Tracheoesophageal ... ORPHA:861
Alg3-Cdg
Cardiomyopathy, Macroglossia, High palate, Abnormal uvula morphology, Neural tube defect ORPHA:79321
Blepharocheilodontic Syndrome 1
Anal atresia, Neural tube defect OMIM:119580
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Natal tooth, Branchial cyst, Ankyloglossia, Intrauterine growth retardation, Polyhyd... OMIM:620186
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Quadriceps muscle weakness, Hand muscle weakness, Distal lower limb amyotrophy, Foot dorsiflexor ... ORPHA:99947
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Branchial cyst, Abnormal heart morphology, Atrioventricu... ORPHA:508488
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Omphalocele, Anal atresi... ORPHA:63260
Isolated Posterior Meningocele
Hydromyelia, Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipit... ORPHA:268810
Iniencephaly
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Omphalocele, Hydroc... ORPHA:63259
Lumbar Syndrome
Bifid scrotum, Myelomeningocele, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, M... ORPHA:83628
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Distal amyotrophy, Abnormal spinal cord morphology ORPHA:139578
Witteveen-Kolk Syndrome
High, narrow palate, Branchial fistula, Growth delay, Microphallus, Male urethral meatus stenosis... OMIM:613406
Sacral Defect With Anterior Meningocele
Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Meningocele, Dermal s... OMIM:600145
Branchiooculofacial Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Cryptorchidism,... OMIM:113620
Craniofacial Microsomia 1
Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Ventricular septal defect, Hydro... OMIM:164210
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology ORPHA:494
X-Linked Cerebral Adrenoleukodystrophy
Hamstring contractures, Myelopathy, Abnormal spinal cord morphology, Facial myokymia ORPHA:139396
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Abnormal spinal cord morphology, Congestive heart failure ORPHA:53721
Solitary Bone Cyst
Muscular edema, Abnormal spinal cord morphology ORPHA:83468
Limb Body Wall Complex
Myelomeningocele, Diastasis recti, Encephalocele, Short umbilical cord, Congenital diaphragmatic ... ORPHA:2369
Alobar Holoprosencephaly
Bifid uvula, Abnormal heart morphology, Hydrocephalus, Short stature, High palate, Neural tube de... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Abnormal heart morphology, Hydrocephalus, Short stature, High palate, Neural tube de... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Abnormal heart morphology, Hydrocephalus, Short stature, High palate, Neural tube de... ORPHA:93924
Semilobar Holoprosencephaly
Bifid uvula, Abnormal heart morphology, Hydrocephalus, Short stature, High palate, Neural tube de... ORPHA:220386
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Anteriorly placed anus, Umbilical hernia, Abnormal heart morphology, S... ORPHA:798
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Camptodactyly, Flexion contracture of finger, Abnormal spinal cord morphology ORPHA:88628
Tetrasomy 9P
Umbilical hernia, Juxtaductal coarctation of the aorta, Intrauterine growth retardation, Myositis... ORPHA:3310
Adrenomyeloneuropathy
Leg muscle stiffness, Distal lower limb muscle weakness, Dorsal column degeneration, Atrophy of t... ORPHA:139399
Superficial Siderosis
Lower limb muscle weakness, Subarachnoid hemorrhage, Atrophy of the spinal cord, Abnormal spinal ... ORPHA:247245
Acute Disseminated Encephalomyelitis
Myelitis, Abnormal spinal cord morphology ORPHA:83597
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Increased red blood cell count, Arrhythmia, Abnormal spinal cord morphology,... ORPHA:68
Primary Sjögren Syndrome
Normocytic anemia, Vasculitis, Arteritis, Lymphopenia, Leukopenia, Decreased proportion of CD4-po... 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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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
Smad5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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