Gene: Nsmce2 MGI:1915751

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Gene Summary

Name:
NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase
Synonyms:
1110014D18Rik

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 pharyngeal arch morphology Nsmce2em1(IMPC)Bay HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Nsmce2em1(IMPC)Bay HOM   E12.5 0.00
abnormal forebrain development Nsmce2em1(IMPC)Bay HOM E9.5 0.00
preweaning lethality, complete penetrance Nsmce2em1(IMPC)Bay HOM   Early adult 0.00
abnormal embryo turning Nsmce2em1(IMPC)Bay HOM E9.5 0.00
embryonic growth retardation Nsmce2em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning Nsmce2em1(IMPC)Bay HET E9.5 0.00
embryonic growth retardation Nsmce2em1(IMPC)Bay HET E9.5 0.00
abnormal neural tube closure Nsmce2em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo size Nsmce2em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo size Nsmce2em1(IMPC)Bay HET E9.5 0.00
abnormal visceral yolk sac morphology Nsmce2em1(IMPC)Bay HOM E9.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Eye Morphology

VIP of right fundus

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of left fundus

16 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Human diseases caused by Nsmce2 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 Nsmce2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Hepatic steatosis, Elevated circulating alanine a... OMIM:617253
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182

The table below shows human diseases predicted to be associated to Nsmce2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Punctate Palmoplantar Keratoderma Type 1
Hodgkin lymphoma, Renal cell carcinoma, Breast carcinoma, Transitional cell carcinoma of the blad... ORPHA:79501
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Serrated Polyposis Syndrome
Biliary tract neoplasm, Prostate cancer, Ovarian neoplasm, Germ cell neoplasia, Colorectal polypo... ORPHA:157798
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis ORPHA:438274
Familial Melanoma
Neoplasm of the stomach, Neoplasm of the pancreas, Neoplasm of the breast, Melanoma ORPHA:618
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hyperparathyroidism, Hamartoma, Hurthle cell thyroid adenoma, Papillary re... OMIM:145001
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Ovarian cyst, Neoplasm of the rectum, Endometrial car... ORPHA:454840
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Infantile Myofibromatosis
Gingival fibromatosis, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Neoplasm ... ORPHA:2591
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Abnormality of the peritoneum, Hepatome... ORPHA:83469
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Neoplasm of the rectum, Neoplasm of the nose, Enlarged polycystic ovaries... ORPHA:2869
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, Fibroma, Neop... ORPHA:733
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Familial Colorectal Cancer Type X
Basal cell carcinoma, Benign neoplasm of the central nervous system, Neuroblastoma, Neoplasm of t... ORPHA:440437
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Von Hippel-Lindau Syndrome
Pulmonary capillary hemangiomatosis, Retinal capillary hemangioma, Pheochromocytoma, Pancreatic c... OMIM:193300
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated hepatic transaminase, Extrahepatic cholestasis, Exocrine pancreatic ... ORPHA:1333
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Carney Complex
Elevated circulating growth hormone concentration, Osteochondroma, Cardiac myxoma, Adrenocortical... ORPHA:1359
Grfoma
Intestinal carcinoid, Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth ho... ORPHA:97261
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Spinal cord tumor, Uterine neoplasm, Jaundice, Brain neoplasm, Pancreatitis, Ne... ORPHA:370348
Peutz-Jeghers Syndrome
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Gastrointestinal carcinoma, Uterine neo... OMIM:175200
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
Ppoma
Intestinal carcinoid, Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth ho... ORPHA:97278
Vipoma
Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth hormone concentration, G... ORPHA:97282
Cancer-Associated Retinopathy
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... ORPHA:71505
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Somatostatinoma
Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth hormone concentration, E... ORPHA:97283
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Neoplasm, Neoplasm of the pancreas, Premature o... ORPHA:2959
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Chondrosarcoma, Ovarian neoplasm, Hemangiomatosis, Mul... ORPHA:163634
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Insulinoma, Pituit... ORPHA:652
Branchiogenic-Deafness Syndrome
Branchial fistula, Short stature, Branchial cyst OMIM:609166
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Retinal capillary hemangioma, Pancreatic cysts, Endolymphatic sac tum... ORPHA:892
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Uterine leiomyoma, Abnormality of the parathyroid morphology, Renal hamartoma, Nephrobla... ORPHA:99880
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Parathyroid Carcinoma
Parathyroid carcinoma, Fibroma, Uterine leiomyoma, Abnormality of the parathyroid morphology, Nep... ORPHA:143
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Ollier Disease
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Visceral angiomatosis, ... ORPHA:296
X-Linked Mandibulofacial Dysostosis
Microcephaly, Webbed neck, Short stature, Branchial anomaly ORPHA:1131
Glucagonoma
Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth hormone concentration, E... ORPHA:97280
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Microcephaly, Severe postnatal growth retardation, Branchial cyst ORPHA:435938
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Mast Cell Sarcoma
Hepatomegaly, Sarcoma, Splenomegaly ORPHA:66661
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Dyskeratosis Congenita
Cirrhosis, Abnormal testis morphology, Lymphoma, Neoplasm, Hepatomegaly, Hepatic failure, Splenom... ORPHA:1775
Branchiogenic Deafness Syndrome
Branchial fistula, Short stature, Branchial cyst ORPHA:50815
Juvenile Polyposis Syndrome
Rectal polyposis, Hamartomatous polyposis, Neoplasm of the gastrointestinal tract, Hemangioblasto... ORPHA:2929
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma, Neoplasm of the skin ORPHA:626
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Liposarcoma
Sarcoma ORPHA:69078
Branchiootorenal Syndrome 1
Branchial fistula, Abnormal cerebral morphology, Branchial cyst OMIM:113650
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Spinal dysraphism, Anencephaly, Men... ORPHA:1908
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Sarcoma, Neoplasm of the liver ORPHA:69077
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Holoprosencephaly
Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Branchial anomaly, Anterior hypopi... ORPHA:2162
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Branchial anomaly, Hypoplasia of the corpus callosum, Intrauterine growth retarda... ORPHA:453499
Gitelman Syndrome
Parathyroid adenoma, Neoplasm of the pancreas ORPHA:358
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Bor Syndrome
Branchial cyst ORPHA:107
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Neoplasm of the rectum, Es... ORPHA:44890
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Adrenocortical adenoma, Prolactinoma, Zollinger-Ellison syndrome, Insulinoma... OMIM:131100
Hemifacial Microsomia
Agenesis of corpus callosum, Hydrocephalus, Branchial anomaly OMIM:164210
Multiple Endocrine Neoplasia Type 4
Adrenocortical adenoma, Elevated circulating growth hormone concentration, Insulinoma, Carcinoid ... ORPHA:276152
Yellow Nail Syndrome
Biliary tract neoplasm, Renal neoplasm, Neoplasm, Sarcoma, Neoplasm of the lung ORPHA:662
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Limitation of neck motion, Lipomyelomenin... ORPHA:268810
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Branchial anomaly, Hypoplasia of the corpus callosum, Growth delay, Microcephaly,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Branchial anomaly, Hypoplasia of the corpus callosum, Growth delay, Microcephaly,... ORPHA:352665
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, Carcinoid tumor, Neoplasm of the thymu... ORPHA:97289
Diabetic Embryopathy
Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Abnormality of the neck, Microcepha... ORPHA:1926
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Growth delay, Short stature, Intrauterine growth retardation, Microcephaly ORPHA:261330
Fanconi Anemia, Complementation Group E
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:600901
Werner Syndrome
Renal neoplasm, Aplasia/Hypoplasia of the testes, Ovarian neoplasm, Neoplasm of the oral cavity, ... ORPHA:902
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Fanconi Anemia, Complementation Group A
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:227650
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Webbed neck, Microcephaly, Low posterior hairline, Hydrocephalus ORPHA:261337
Retinoblastoma
Retinoblastoma, Lymphoma, Osteosarcoma, Pinealoma, Leukemia, Ewing sarcoma OMIM:180200
Oligomeganephronia
Branchial cyst ORPHA:2260
Iniencephaly
Cystic hygroma, Spina bifida, Holoprosencephaly, Rhizomelia, Spinal dysraphism, Anencephaly, Myel... ORPHA:63259
Fanconi Anemia, Complementation Group C
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:227645
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal testis morphology, Neoplasm of the thyroid gland, Neoplasm of the breast, Polycy... ORPHA:457059
Mastocytosis
Chronic leukemia, Hepatomegaly, Sarcoma, Splenomegaly, Acute leukemia ORPHA:98292
Retinoblastoma
Retinoblastoma, Glioma, Lymphoma, Leiomyosarcoma, Osteosarcoma, Rhabdomyosarcoma, Leukemia, Pineo... ORPHA:790
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Microcephaly, Spinal dysraphism, Short stature OMIM:617660
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle, Annular pancreas OMIM:227646
Treacher-Collins Syndrome
Branchial fistula ORPHA:861
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism OMIM:612918
Branchiooculofacial Syndrome
Low posterior hairline, Branchial anomaly, Postnatal growth retardation, Intrauterine growth reta... OMIM:113620
Neurofibromatosis Type 1
Cryptorchidism, Lisch nodules, Neoplasm of the gastrointestinal tract, Urinary tract neoplasm, Pl... ORPHA:636
Monosomy 22
Aplasia of the thymus, Meningioma, Gonadal neoplasm, Sarcoma, Schwannoma, Hepatosplenomegaly ORPHA:96123
Semilobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Growth delay, Abnormal hypothalamus physiology, ... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Growth delay, Abnormal hypothalamus physiology, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Growth delay, Abnormal hypothalamus physiology, ... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Growth delay, Abnormal hypothalamus physiology, ... ORPHA:93924
8Q24.3 Microdeletion Syndrome
Branchial cyst, Hypoplasia of the corpus callosum, Ectopic posterior pituitary, Spina bifida occu... ORPHA:508488
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Hypoplasia of the corpus callosum, Umbilical hernia, Neural tube defec... ORPHA:798
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Hepatic steatosis, Elevated circulating alanine a... OMIM:617253
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182

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 Nsmce2

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 Nsmce2.

No publications found that use IMPC mice or data for Nsmce2.

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MGI Allele Allele Type Produced
Nsmce2em1(IMPC)Bay Exon Deletion Mice
Nsmce2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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