Gene Summary

Name:
structural maintenance of chromosomes 3
Synonyms:
SmcD,  Bamacan,  Cspg6,  Mmip1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal snout morphology Smc3tm1a(EUCOMM)Wtsi HET   Early adult 6.24×10-05
decreased body length Smc3tm1a(EUCOMM)Wtsi HET Early adult 6.35×10-05
decreased body weight Smc3tm1a(EUCOMM)Wtsi HET Early adult 1.41×10-11
abnormal coat/hair pigmentation Smc3tm1a(EUCOMM)Wtsi HET Early adult 2.64×10-06
decreased lean body mass Smc3tm1a(EUCOMM)Wtsi HET Early adult 4.25×10-06
decreased bone mineral content Smc3tm1a(EUCOMM)Wtsi HET Early adult 4.70×10-05
preweaning lethality, complete penetrance Smc3tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

16 Images

Legacy Phenotype Associated Images

View all 168 images

Human diseases caused by Smc3 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 Smc3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cornelia De Lange Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors ORPHA:199
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thick hair, Highly arched eyebrow, Hirsutism, Laterally extended eyebrow, Synophrys, Long eyelash... OMIM:610759

The table below shows human diseases predicted to be associated to Smc3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Short nose, Hypopigmentation of hair ORPHA:1355
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior OMIM:605899
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Red hair, Hypopigmentation of the skin, Failure to thrive, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Red hair, Hypopigmentation of the skin, Failure to thrive, Obesity ORPHA:71526
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Short nose, Hypopigmentation of hair, Abno... ORPHA:894
Phenylketonuria
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... OMIM:261600
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Obesity And Hypopigmentation
Obesity, Red hair OMIM:620195
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Red hair, Obesity, Advanced ossification of carpal bones, Blue irides, Fair hair OMIM:614613
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, Low frustration tolerance, Stereotypical hand wringing, ... ORPHA:163681
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Fine hair ORPHA:2221
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Myelomeningocele, Motor stereotypy, Attenti... OMIM:620141
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Ataxia-Telangiectasia
Premature graying of hair, Failure to thrive, Multiple cafe-au-lait spots, Hypopigmentation of hair ORPHA:100
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hypopigmentation of hair ORPHA:70472
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Osteopetrosis, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Griscelli Syndrome Type 2
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79477
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Failure to thrive, Generalized hype... ORPHA:3322
Squalene Synthase Deficiency
Failure to thrive in infancy, Abnormality of hair pigmentation OMIM:618156
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Increased B cell count, Increased T cell count ORPHA:98813
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair, Coronal craniosynost... ORPHA:53271
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Porphyria Due To Ala Dehydratase Deficiency
Depression, Agitation, Abnormal fear-induced behavior, Restlessness ORPHA:100924
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... OMIM:203300
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Red hair OMIM:609734
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:398079
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98794
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:177904
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:177901
Syndromic Diarrhea
Trichorrhexis nodosa, Hypopigmentation of hair, Brittle hair, Generalized hypopigmentation, Uncom... ORPHA:84064
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of hair, Increased body weight, Hypopigmentation of the skin, Osteop... ORPHA:398069
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopigmentation, Me... ORPHA:79430
Koolen-De Vries Syndrome
Abnormality of hair texture, Wide nasal bridge, Hypopigmentation of hair ORPHA:96169
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Prader-Willi Syndrome
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Failure to thri... ORPHA:739
Brittle Cornea Syndrome
Abnormality of hair pigmentation, Osteoporosis ORPHA:90354
Prader-Willi Syndrome Due To Translocation
Short nose, Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentat... ORPHA:177907
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me... OMIM:214500
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Degcags Syndrome
Premature graying of hair, Osteopenia, Short nose, Hypopigmentation of hair, Abnormal eyelash mor... OMIM:619488
Oculocerebral Hypopigmentation Syndrome, Cross Type
Short nose, Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Short nose, Hypopigmentation of hair, Coarse hair, Widow's peak ORPHA:1974
Vici Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Failure to thrive, Albinism, Ocular albinism OMIM:242840
Cystinosis, Nephropathic
Rickets, Hypophosphatemic rickets, Hypopigmentation of hair, Hypopigmentation of the skin, Failur... OMIM:219800
Autoinflammatory Disease, Systemic, With Vasculitis
Anemia, Increased B cell count, Leukocytosis, Increased T cell count, Failure to thrive, Hepatosp... OMIM:620376
Chédiak-Higashi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Large clumps of pigment irregularly distr... ORPHA:167
Menkes Disease
Woolly hair, Osteoporosis, Hypopigmentation of hair, Sparse hair ORPHA:565
Histidinemia
Hyperactivity ORPHA:2157
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353281
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Wide nasal bridge, Hypopigmentation of hair ORPHA:818
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353277
Sarcoidosis
Anemia, Increased T cell count, Leukopenia, Thrombocytopenia, Weight loss, Eosinophilia, Hemolyti... ORPHA:797
Cornelia De Lange Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors ORPHA:199
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thick hair, Highly arched eyebrow, Hirsutism, Laterally extended eyebrow, Synophrys, Long eyelash... OMIM:610759

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.

Phenotype Allele Zygosity Sex Life Stage
Liver - lipid deposition Smc3tm1a(EUCOMM)Wtsi HET Early adult
Brain - process of degenerative change Smc3tm1a(EUCOMM)Wtsi HET Early adult
Brain - developmental and structural abnormality Smc3tm1a(EUCOMM)Wtsi HET Early adult

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 Smc3.

There are 13 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Combinatorial genetics reveals the Dock1-Rac2 axis as a potential target for the treatment of NPM1;Cohesin mutated AML. Leukemia (July 2022) Smc3tm1c(EUCOMM)Wtsi 35778533
Smc3 dosage regulates B cell transit through germinal centers and restricts their malignant transformation. Nature immunology (January 2021) Smc3tm1c(EUCOMM)Wtsi Smc3tm1a(EUCOMM)Wtsi 33432228
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Smc3tm1a(EUCOMM)Wtsi PMC7263671
Wapl releases Scc1-cohesin and regulates chromosome structure and segregation in mouse oocytes. The Journal of cell biology (April 2020) Smc3tm1c(EUCOMM)Wtsi PMC7147110
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Smc3tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Smc3tm1a(EUCOMM)Wtsi PMC6459510
Smc3 is required for mouse embryonic and adult hematopoiesis. Experimental hematology (December 2018) Smc3tm1c(EUCOMM)Wtsi Smc3tm1a(EUCOMM)Wtsi 30553776
Cohesin is positioned in mammalian genomes by transcription, CTCF and Wapl. Nature (April 2017) Smc3tm1c(EUCOMM)Wtsi Smc3tm1a(EUCOMM)Wtsi PMC6080695
Sororin actively maintains sister chromatid cohesion. The EMBO journal (February 2016) Smc3tm1a(EUCOMM)Wtsi PMC4801952
Dose-dependent role of the cohesin complex in normal and malignant hematopoiesis. The Journal of experimental medicine (October 2015) Smc3tm1c(EUCOMM)Wtsi Smc3tm1a(EUCOMM)Wtsi PMC4612085
A gene expression resource generated by genome-wide lacZ profiling in the mouse. Disease models & mechanisms (August 2015) Smc3tm1a(EUCOMM)Wtsi PMC4631787
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes. Cell (July 2013) Smc3tm1a(EUCOMM)Wtsi PMC3717207
The mouse genetics toolkit: revealing function and mechanism. Genome biology (June 2011) Smc3tm1a(EUCOMM)Wtsi PMC3218837

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