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
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 turning Nsmce2em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning Nsmce2em1(IMPC)Bay HET E9.5 0.00
abnormal embryo size Nsmce2em1(IMPC)Bay HET E9.5 0.00
embryonic growth retardation Nsmce2em1(IMPC)Bay HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Nsmce2em1(IMPC)Bay HOM   E12.5 0.00
abnormal pharyngeal arch morphology Nsmce2em1(IMPC)Bay HOM E9.5 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 size Nsmce2em1(IMPC)Bay HOM E9.5 0.00
abnormal visceral yolk sac morphology Nsmce2em1(IMPC)Bay HOM E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

Eye Morphology

VIP of left fundus

16 Images

Eye Morphology

VIP of left fundus

30 Images

Eye Morphology

VIP of right fundus

31 Images

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of right eye

31 Images

Eye Morphology

VIP of right fundus

16 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Eye Morphology

VIP of left eye

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Eye Morphology

VIP of left eye

31 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

MicroCT E9.5

Embryo reconstruction

12 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, Elevated circulating aspartate aminotransferase c... OMIM:617253
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Severe short-limb dwarfism 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 adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre... ORPHA:145
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Familial Melanoma
Melanoma, Neoplasm of the stomach, Neoplasm of the breast, Neoplasm of the pancreas ORPHA:618
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology ORPHA:438274
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
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci... OMIM:145001
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly, Sarcoma, Ovarian neoplasm, Neo... ORPHA:83469
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Infantile Myofibromatosis
Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f... ORPHA:2591
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal carcinoma, Pancreatic adenocarcinoma, Neoplasm of the co... ORPHA:2869
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Familial Colorectal Cancer Type X
Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon, Stomach ca... ORPHA:440437
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage... ORPHA:79501
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... ORPHA:144
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas OMIM:608189
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Pancreatic cysts, Pheochromocytoma, Paraganglioma, Renal cell carci... OMIM:193300
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Colon cancer, Pancre... ORPHA:1333
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the scrotum, Uterine neoplasm, Neoplasm of the pancreas, Pancreatitis, Brain neoplasm... ORPHA:370348
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Uterine neoplasm, Bile duct polyp, Ovarian cyst, Biliary tract abnorm... OMIM:175200
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous... ORPHA:97261
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormal peritoneum morphology ORPHA:2023
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous... ORPHA:97278
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Vipoma
Intrahepatic cholestasis, Follicular thyroid carcinoma, Pituitary adenoma, Adrenocortical adenoma... ORPHA:97282
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst OMIM:609166
Maffucci Syndrome
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... ORPHA:163634
Somatostatinoma
Intrahepatic cholestasis, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous lipoma, Increas... ORPHA:97283
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Neoplasm of the pancr... ORPHA:2959
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc... ORPHA:1359
Multiple Endocrine Neoplasia Type 1
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... ORPHA:652
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Thyroid carcinoma, N... ORPHA:99880
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas OMIM:147630
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Pancreatic cysts, Cerebellar hemangioblastoma, Neoplasm of the panc... ORPHA:892
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Parathyroid Carcinoma
Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morpholog... ORPHA:143
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Short neck, Short stature, Growth delay OMIM:615583
Ollier Disease
Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma ORPHA:296
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Glucagonoma
Intrahepatic cholestasis, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous lipoma, Increas... ORPHA:97280
X-Linked Mandibulofacial Dysostosis
Short stature, Webbed neck, Branchial anomaly ORPHA:1131
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Dyskeratosis Congenita
Hepatic failure, Lymphoma, Neoplasm, Splenomegaly, Cirrhosis, Abnormal testis morphology, Hepatom... ORPHA:1775
Progressive Osseous Heteroplasia
Sarcoma, Abnormality of the parathyroid gland ORPHA:2762
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Juvenile Polyposis Syndrome
Stomach cancer, Neoplasm of the gastrointestinal tract, Neoplasm of the pancreas, Juvenile gastro... ORPHA:2929
Branchiogenic Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst ORPHA:50815
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Branchial cyst ORPHA:435938
Mast Cell Sarcoma
Hepatomegaly, Sarcoma, Splenomegaly ORPHA:66661
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma ORPHA:626
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Liposarcoma
Sarcoma ORPHA:69078
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes... ORPHA:44890
Rhabdoid Tumor
Renal neoplasm, Sarcoma, Neoplasm of the liver, Neoplasm of the central nervous system ORPHA:69077
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Intrauterine growth retardation, Increased nuchal translucency, Branchial anomaly ORPHA:453499
Bor Syndrome
Branchial cyst ORPHA:107
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Pulmonary carcinoid tumor, Ne... ORPHA:99889
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Gitelman Syndrome
Neoplasm of the pancreas, Parathyroid adenoma ORPHA:358
Holoprosencephaly
Spinal dysraphism, Branchial anomaly, Encephalocele, Short neck, Hydrocephalus, Holoprosencephaly ORPHA:2162
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolactin cell adenoma, Sub... OMIM:131100
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Werner Syndrome
Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le... ORPHA:902
Yellow Nail Syndrome
Biliary tract neoplasm, Neoplasm, Renal neoplasm, Sarcoma, Neoplasm of the lung ORPHA:662
Thymic Neuroendocrine Tumor
Pituitary adenoma, Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Increased circulati... ORPHA:97289
Isolated Posterior Meningocele
Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocel... ORPHA:268810
Multiple Endocrine Neoplasia Type 4
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Renal angiomyolipoma, Elevated cir... ORPHA:276152
Distal 22Q11.2 Microdeletion Syndrome
Short stature, Intrauterine growth retardation, Branchial fistula, Growth delay ORPHA:261330
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Increased nuchal translucency, Branchial anomaly, Growth delay ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Increased nuchal translucency, Branchial anomaly, Growth delay ORPHA:352665
Oligomeganephronia
Branchial cyst ORPHA:2260
Distal 22Q11.2 Microduplication Syndrome
Low posterior hairline, Webbed neck, Branchial fistula, Hydrocephalus ORPHA:261337
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Alg3-Cdg
Neural tube defect ORPHA:79321
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Treacher-Collins Syndrome
Branchial fistula, Encephalocele ORPHA:861
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Short stature, Intrauterine growth retardation, Natal tooth, Branchial cyst OMIM:620186
Iniencephaly
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Cyst... ORPHA:63259
Retinoblastoma
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... ORPHA:790
Neurofibromatosis Type 1
Neoplasm of the skin, Chronic myelogenous leukemia, Meningioma, Rhabdomyosarcoma, Pheochromocytom... ORPHA:636
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Branchial cyst, Intrauterine growth retardation, Short n... ORPHA:508488
Fanconi Anemia, Complementation Group E
Leukemia, Prolonged G2 phase of cell cycle, Cryptorchidism OMIM:600901
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Fanconi Anemia, Complementation Group A
Leukemia, Prolonged G2 phase of cell cycle, Cryptorchidism OMIM:227650
Branchiooculofacial Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Low posterior h... OMIM:113620
Monosomy 22
Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, Aplasia of the thymus, Sarcoma ORPHA:96123
Witteveen-Kolk Syndrome
Short stature, Intrauterine growth retardation, Branchial fistula, Growth delay OMIM:613406
Craniofacial Microsomia 1
Branchial anomaly, Occipital encephalocele, Hydrocephalus OMIM:164210
Semilobar Holoprosencephaly
Short stature, Growth delay, Hydrocephalus, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Short stature, Growth delay, Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Growth delay, Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Short stature, Growth delay, Hydrocephalus, Neural tube defect ORPHA:93924
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Schinzel-Giedion Syndrome
Short neck, Delayed eruption of teeth, Neural tube defect, Umbilical hernia ORPHA:798
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Elevated circulating aspartate aminotransferase c... OMIM:617253
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Severe short-limb dwarfism 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
Nsmce2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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