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Gene: Smarcb1 MGI:1328366

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Gene Summary

Name:
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Synonyms:
Baf47,  Snf5,  SNF5/INI1,  integrase interactor 1,  Ini1

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Smarcb1tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
abnormal coat appearance Smarcb1tm1b(EUCOMM)Hmgu HET Early adult 1.58×10-06
abnormal eye anterior chamber depth Smarcb1tm1b(EUCOMM)Hmgu HET Early adult 2.79×10-33
abnormal skin coloration Smarcb1tm1b(EUCOMM)Hmgu HET Early adult 1.34×10-12
preweaning lethality, complete penetrance Smarcb1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased cornea thickness Smarcb1tm1b(EUCOMM)Hmgu HET Early adult 0.00
decreased prepulse inhibition Smarcb1tm1b(EUCOMM)Hmgu HET Early adult 9.22×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (2 of 2)
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 50% (1 of 2)
Mesonephros of male N/A heterozygote 50% (1 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 510)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 510)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 510)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 505)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 510)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 505)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of left fundus

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of right fundus

15 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

VIP of left eye

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

4 Images

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Human diseases caused by Smarcb1 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.

The table below shows human diseases associated to Smarcb1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schwannomatosis 1
Schwannoma, Spinal cord tumor, Meningioma OMIM:162091
Rhabdoid Tumor Predisposition Syndrome 1
Choroid plexus carcinoma, Medulloblastoma OMIM:609322
Atypical Teratoid Rhabdoid Tumor
Malignant neoplasm of the central nervous system ORPHA:99966
Meningioma
Spinal meningioma, Neurofibromas, Intracranial meningioma, Neoplasm of the anterior pituitary, Ne... ORPHA:2495
Coffin-Siris Syndrome
Hepatoblastoma, Papillary thyroid carcinoma ORPHA:1465
Coffin-Siris Syndrome 3
Sparse scalp hair, Hirsutism, Hypertrichosis, Thick eyebrow, Sparse hair, Long eyelashes OMIM:614608

The table below shows human diseases predicted to be associated to Smarcb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Familial Adenomatous Polyposis 3
Bladder neoplasm, Meningioma, Neoplasm of the skin, Breast carcinoma OMIM:616415
Schwannomatosis 1
Schwannoma, Spinal cord tumor, Meningioma OMIM:162091
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Schwannomatosis 2
Schwannoma, Spinal cord tumor OMIM:615670
Adrenocortical Carcinoma, Hereditary
Choroid plexus carcinoma, Adrenocortical carcinoma OMIM:202300
Meningioma, Familial, Susceptibility To
Meningioma OMIM:607174
Prostate Cancer/Brain Cancer Susceptibility
Neoplasm of the central nervous system, Prostate cancer OMIM:603688
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Glioma Susceptibility 3
Medulloblastoma, Astrocytoma, Glioblastoma multiforme OMIM:613029
Rhabdoid Tumor Predisposition Syndrome 1
Choroid plexus carcinoma, Medulloblastoma OMIM:609322
Subependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251639
Ependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251636
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... ORPHA:79140
Pleuropulmonary Blastoma
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma OMIM:601200
Polymerase Proofreading-Related Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... ORPHA:447877
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma OMIM:135290
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Medulloblastoma
Medulloblastoma OMIM:155255
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... ORPHA:79501
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Glioma Susceptibility 9
Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma OMIM:616568
Turcot Syndrome With Polyposis
Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... ORPHA:99818
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
Familial Adenomatous Polyposis
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... ORPHA:733
Tietz Syndrome
Abnormal anterior chamber morphology, Hypopigmentation of the skin, Hypopigmentation of hair, Whi... ORPHA:42665
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness OMIM:614170
Neuroblastoma, Susceptibility To, 2
Ganglioneuroma, Ganglioneuroblastoma, Neuroblastoma OMIM:613013
Ollier Disease
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ... ORPHA:296
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Peripheral primitive neuroectodermal neoplasm, Uterin... ORPHA:370348
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma, Carcinoma OMIM:603641
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoconus, Keratoglobus, Red hair, Decreased corneal thickness OMIM:229200
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Bilateral vestibular schwannoma, Paraspinal neurofibromas, Lisch nodules, Palmar neurofibromas, M... OMIM:162260
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Fanconi Anemia, Complementation Group N
Nephroblastoma, Medulloblastoma, Neuroblastoma OMIM:610832
Large Congenital Melanocytic Nevus
Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin ORPHA:626
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma OMIM:180200
Infantile Myofibromatosis
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o... ORPHA:2591
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Carcinoid tumor, Neurofibromas, Pheochromocytoma OMIM:162240
Congenital Central Hypoventilation Syndrome
Neoplasm of the central nervous system, Ganglioneuroblastoma, Neuroblastoma, Ganglioneuroma ORPHA:661
Mast Cell Sarcoma
Sarcoma ORPHA:66661
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... ORPHA:454840
Paragangliomas 7
Pheochromocytoma, Paraganglioma OMIM:618475
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Liposarcoma
Sarcoma ORPHA:69078
Platelet Disorder, Undefined
Hematological neoplasm, Neuroblastoma OMIM:173420
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Blue Rubber Bleb Nevus
Hemangioma, Cerebellar medulloblastoma OMIM:112200
Medulloblastoma
Adenomatous colonic polyposis, Medulloblastoma, Neuroblastoma, Spinal cord tumor, Neoplasm of the... ORPHA:616
17Q11 Microdeletion Syndrome
Glomus jugular tumor, Optic nerve glioma, Plexiform neurofibroma, Glioma, Breast carcinoma, Gastr... ORPHA:97685
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Atypical Teratoid Rhabdoid Tumor
Malignant neoplasm of the central nervous system ORPHA:99966
Rhabdoid Tumor
Neoplasm of the central nervous system, Neoplasm of the liver, Sarcoma, Renal neoplasm ORPHA:69077
Osteogenic Sarcoma
Osteosarcoma, Retinoblastoma OMIM:259500
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Neoplasm of the central nervous system, Neoplasm of t... ORPHA:83469
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Paragangliomas 4
Glomus jugular tumor, Neoplasm, Neuroblastoma, Gastrointestinal stroma tumor, Paraganglioma of he... OMIM:115310
Familial Multiple Lipomatosis
Odontogenic keratocysts of the jaw, Medulloblastoma ORPHA:199276
Brittle Cornea Syndrome
Corneal scarring, Abnormality of hair pigmentation, Corneal erosion, Corneal dystrophy, Keratoglo... ORPHA:90354
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Werner Syndrome
Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane... ORPHA:902
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Hamartoma of tongue, Benign neoplasm of the central nervous system ORPHA:1338
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Yellow Nail Syndrome
Neoplasm, Renal neoplasm, Neoplasm of the lung, Biliary tract neoplasm, Sarcoma ORPHA:662
Retinitis Pigmentosa
Keratoconus, Cataract ORPHA:791
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia, Acute myeloid leukemia OMIM:601399
Microtriplication 11Q24.1
Long eyelashes, Keratoconus, Thick eyebrow, Synophrys ORPHA:289522
Arthrogryposis, Distal, Type 5
Keratoconus, Keratoglobus, Astigmatism OMIM:108145
Steinert Myotonic Dystrophy
Choroidal melanoma, Endometrial carcinoma, Colon cancer, Non-medullary thyroid carcinoma, Brain n... ORPHA:273
Monosomy 9Q22.3
Medulloblastoma, Odontogenic keratocysts of the jaw, Nephroblastoma, Rhabdomyosarcoma, Basal cell... ORPHA:77301
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... ORPHA:790
Basal Cell Nevus Syndrome
Medulloblastoma, Odontogenic keratocysts of the jaw, Rhabdomyoma, Basal cell carcinoma, Ovarian f... OMIM:109400
Desmoid Tumor
Desmoid tumors, Intestinal polyposis, Neoplasm of the skin, Fibroma ORPHA:873
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Neoplasm of the nervous system, Ganglioneuroblastoma ORPHA:2151
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Parathyroid adenoma, Carcinoid tumor, Renal angiomyolipoma, Pancreatic endocri... OMIM:610755
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hirsutism, Highly arched eyebrow, Decreased corneal thickness ORPHA:293967
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, Medulloblastoma, Lymphoma, Glioma OMIM:251260
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Punctate opacification of th... ORPHA:67043
Ovarian Fibrothecoma
Ovarian fibroma, Diffuse leiomyomatosis, Fibrosarcoma ORPHA:314478
Tuberous Sclerosis 2
Optic nerve glioma, Subependymal nodules, Subungual fibromas, Cortical tubers, Renal angiomyolipo... OMIM:613254
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis, Sparse hair, Alopecia OMIM:242150
Pilomatrixoma
Pilomatrixoma OMIM:132600
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Testicular neoplasm, Sarcoma, Neoplasm of the breast, Neoplasm of the thyroid gland ORPHA:457059
Pineoblastoma
Retinoblastoma, Pinealoma ORPHA:251909
Costello Syndrome
Generalized hyperpigmentation, Keratoconus, Abnormal hair morphology, Woolly hair ORPHA:3071
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Mastocytosis
Acute leukemia, Sarcoma, Chronic leukemia ORPHA:98292
Gapo Syndrome
Sparse eyebrow, Alopecia, Sparse eyelashes, Early balding, Keratoconus, Hypopigmented skin patches ORPHA:2067
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Histiocytoma, Osteosarcoma, Fibrosarcoma OMIM:112250
Neurofibromatosis Type 1
Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Pheochromocytoma, Multiple lipoma... ORPHA:636
Bohring-Opitz Syndrome
Nephroblastoma, Medulloblastoma ORPHA:97297
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Astigmatism, Iris hypopigmentation, Keratoconus ORPHA:72
Gapo Syndrome
Sparse hair, Sparse eyebrow, Sparse eyelashes, Alopecia, Hypoplastic nipples, Keratoconus, Breast... OMIM:230740
Cowden Syndrome
Papilloma, Neoplasm, Lipoma, Breast carcinoma, Neoplasm of the central nervous system, Melanoma, ... ORPHA:201
Nail-Patella Syndrome
Microphakia, Microcornea, Keratoconus, Cataract, Lester's sign, Antecubital pterygium OMIM:161200
Monosomy 22
Schwannoma, Sarcoma, Meningioma, Gonadal neoplasm ORPHA:96123
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma OMIM:619750
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Warburg-Cinotti Syndrome
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness OMIM:618175
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Pituitary null cell adenoma, Pituitary adenoma, P... ORPHA:276152
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Corneal neovascularization, Keratoconjunctivitis, Recurrent corneal erosions,... ORPHA:2363
Meige Disease
Angiosarcoma ORPHA:90186
Lymphedema-Distichiasis Syndrome
Fibrosarcoma ORPHA:33001
Arterial Tortuosity Syndrome
Keratoconus OMIM:208050
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Esophageal neoplasm, Uterine neoplasm, Fibroma, Tracheobronchial leiomyom... ORPHA:1018
Hyperparathyroidism-Jaw Tumor Syndrome
Lipoma, Thyroid carcinoma, Parathyroid adenoma, Nephroblastoma, Testicular neoplasm, Fibroma, Ren... ORPHA:99880
Parathyroid Carcinoma
Lipoma, Thyroid carcinoma, Parathyroid carcinoma, Nephroblastoma, Testicular neoplasm, Fibroma, R... ORPHA:143
Tuberous Sclerosis Complex
Subependymal nodules, Pituitary adenoma, Cortical tubers, Parathyroid adenoma, Carcinoid tumor, P... ORPHA:805
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus ORPHA:3342
Multiple Endocrine Neoplasia Type 1
Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, Pituitary prolactin cell ad... ORPHA:652
Aicardi Syndrome
Lipoma, Hepatoblastoma, Teratoma, Hemangioma, Metastatic angiosarcoma, Carcinoma OMIM:304050
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Microcornea OMIM:225400
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Optic nerve glioma, Hemangioma, Subcutaneous neurofibromas, Ossifying fibroma, Lisch nodules, Neu... ORPHA:363700
Vascular Ehlers-Danlos Syndrome
Abnormality of hair texture, Abnormal pupil morphology, Alopecia, Aplasia/Hypoplasia of the eyebr... ORPHA:286
Hypermobile Ehlers-Danlos Syndrome
Keratoconjunctivitis sicca, Keratoconus ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Alopecia of scalp OMIM:130050
Meningioma
Spinal meningioma, Neurofibromas, Intracranial meningioma, Neoplasm of the anterior pituitary, Ne... ORPHA:2495
Coffin-Siris Syndrome
Hepatoblastoma, Papillary thyroid carcinoma ORPHA:1465
Coffin-Siris Syndrome 3
Sparse scalp hair, Hirsutism, Hypertrichosis, Thick eyebrow, Sparse hair, Long eyelashes OMIM:614608

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 Smarcb1

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 Smarcb1.

No publications found that use IMPC mice or data for Smarcb1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Smarcb1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Smarcb1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Smarcb1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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