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Gene: Smc3 MGI:1339795

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Gene Summary

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

Order Alleles

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
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
preweaning lethality, complete penetrance Smc3tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
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

Download data as:  TSV  XLS

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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

View images
Legacy Phenotype Associated Images
Smc3tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Smc3tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI
Smc3tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Smc3tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Smc3tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI

View all 168 images

Smc3tm1a(EUCOMM)Wtsi
short snout, upturned snout, HET, Male, WTSI
Smc3tm1a(EUCOMM)Wtsi
short snout, upturned snout, HET, Male, WTSI
Smc3tm1a(EUCOMM)Wtsi
upturned snout, short snout, HET, Male, WTSI
Smc3tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Smc3tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

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
Compulsive behaviors, Attention deficit hyperactivity disorder ORPHA:199
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Laterally extended eyebrow, Thick eyebrow, Thick hair, Highly arched eyebrow, Synophrys, Low ante... 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
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes 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
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Wide nasal bridge, Prematu... OMIM:193510
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Albinism ORPHA:2786
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... OMIM:261600
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Obesity Due To Prohormone Convertase I Deficiency
Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity ORPHA:71526
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Obesity And Hypopigmentation
Red hair, Obesity OMIM:620195
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Wide nasal bridg... ORPHA:2884
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:177910
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Obesity, Advanced ossification of carpal bones, Red hair, Short nose, Fair hair OMIM:614613
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Stereotypical hand wringing, Low frustration tolerance, Abnor... ORPHA:163681
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Generalized hirsutism ORPHA:2221
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit... OMIM:620141
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce... ORPHA:169154
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:411515
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Failure to thrive, Multiple cafe-au-lait spots ORPHA:100
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Failure to thrive ORPHA:70472
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Wide nasal bridge, Hypopigmente... ORPHA:3440
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin, Osteopetrosis OMIM:618541
Squalene Synthase Deficiency
Failure to thrive in infancy, Abnormality of hair pigmentation OMIM:618156
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Failure to thrive, Increased B cell count ORPHA:98813
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Coronal craniosynost... ORPHA:53271
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:411511
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Obesity OMIM:609734
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of hair, Osteoporosis, Obesity, Abdominal obesity, Failure to thrive... ORPHA:398079
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:98794
Prader-Willi Syndrome
Osteopenia, Hypopigmentation of hair, Failure to thrive in infancy, Osteoporosis, Obesity, Abdomi... OMIM:176270
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Hypopigmentation of hair, Small for gestational age, Osteoporosis, Obesity, Failure t... ORPHA:98754
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Small for gestational age, Wide nasal bridge, Uncombable ... ORPHA:84064
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Hypopigmentation of hair, Small for gestational age, Osteoporosis, Obesity, Failure t... ORPHA:98793
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Hypopigmentation of hair, Small for gestational age, Osteoporosis, Obesity, Failure t... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Hypopigmentation of hair, Small for gestational age, Osteoporosis, Obesity, Failure t... ORPHA:177901
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of hair, Osteoporosis, Increased body weight, Abdominal obesity, Fai... ORPHA:398069
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Weight loss, Melanocytic nevus, Long... ORPHA:79430
Koolen-De Vries Syndrome
Hypopigmentation of hair, Wide nasal bridge, Abnormality of hair texture ORPHA:96169
Prader-Willi Syndrome
Osteopenia, Hypopigmentation of hair, Osteoporosis, Abdominal obesity, Failure to thrive, Hypopig... ORPHA:739
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Brittle Cornea Syndrome
Osteoporosis, Abnormality of hair pigmentation ORPHA:90354
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Obesity, Short nose, Stellate iris, Hypopigmentation of the skin, Hyper... ORPHA:177907
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Wide nasal bridge, Hypopigmented skin patc... ORPHA:163746
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair, Short nose ORPHA:1974
Oculocerebral Hypopigmentation Syndrome, Cross Type
Short nose, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:2719
Degcags Syndrome
Osteopenia, Abnormal eyebrow morphology, Hypopigmentation of hair, Small for gestational age, Cra... OMIM:619488
Vici Syndrome
Hypopigmentation of hair, Albinism, Ocular albinism, Failure to thrive, Hypopigmentation of the skin OMIM:242840
Cystinosis, Nephropathic
Hypopigmentation of hair, Failure to thrive in infancy, Retinal pigment epithelial mottling, Rick... OMIM:219800
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair, Osteoporosis ORPHA:565
Histidinemia
Hyperactivity ORPHA:2157
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair, Wide nasal bridge ORPHA:818
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277
Sarcoidosis
Hemolytic anemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Weight loss, Leukopenia... ORPHA:797
Cornelia De Lange Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder ORPHA:199
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Laterally extended eyebrow, Thick eyebrow, Thick hair, Highly arched eyebrow, Synophrys, Low ante... 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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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
Smc3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Smc3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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