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

31 Images

Eye Morphology

VIP of left fundus

30 Images

Eye Morphology

VIP of left fundus

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Eye Morphology

VIP of left eye

31 Images

Eye Morphology

VIP of right eye

31 Images

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of left eye

16 Images

MicroCT E9.5

Embryo reconstruction

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Eye Morphology

VIP of right fundus

16 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
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
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... ORPHA:157798
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Primary ... ORPHA:145
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma ORPHA:438274
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm of the breast 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
Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal c... OMIM:145001
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... ORPHA:454840
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Infantile Myofibromatosis
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o... ORPHA:2591
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous system,... ORPHA:83469
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Esophageal neoplasm, Neoplasm of the colon, Gastrointestinal carcinoma, N... ORPHA:2869
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... ORPHA:733
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... ORPHA:79501
Familial Colorectal Cancer Type X
Neoplasm of the rectum, Neoplasm of the colon, Neoplasm of the pancreas, Pituitary adenoma, Neuro... ORPHA:440437
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Lynch Syndrome
Neoplasm of the rectum, Neoplasm of the pancreas, Pituitary adenoma, Ovarian neoplasm, Neuroblast... ORPHA:144
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Familial Pancreatic Carcinoma
Neoplasm of the liver, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Breast carcin... ORPHA:1333
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Peripheral primitive neuroectodermal neoplasm, Uterin... ORPHA:370348
Grfoma
Neoplasm of the pancreas, Cholelithiasis, Pituitary adenoma, Elevated circulating growth hormone ... ORPHA:97261
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Uterine neoplasm, Multiple gastric polyps, Breast carcinoma, Ovarian cy... OMIM:175200
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... ORPHA:103918
Ppoma
Neoplasm of the pancreas, Cholelithiasis, Pituitary adenoma, Elevated circulating growth hormone ... ORPHA:97278
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... ORPHA:71505
Vipoma
Neoplasm of the pancreas, Pituitary adenoma, Neoplasm of the liver, Hepatomegaly, Extrahepatic ch... ORPHA:97282
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Somatostatinoma
Neoplasm of the pancreas, Medullary thyroid carcinoma, Pituitary adenoma, Hepatomegaly, Extrahepa... ORPHA:97283
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated hepatic transaminase, Neoplasm, Hepatic steatosis ORPHA:2959
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Carney Complex
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Enchondroma, Ovarian cyst, Increas... ORPHA:1359
Multiple Endocrine Neoplasia Type 1
Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, Pituitary prolactin cell ad... ORPHA:652
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Ollier Disease
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ... ORPHA:296
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Endolymphatic sac tumor, Papillary cystadenoma of the epididymis, Parag... ORPHA:892
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Pancreatitis, Parathyroid a... ORPHA:99880
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Parathyroid Carcinoma
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Pancreatitis, Parathyroid c... ORPHA:143
Glucagonoma
Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone concentration, H... ORPHA:97280
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
X-Linked Mandibulofacial Dysostosis
Short stature, Webbed neck, Branchial anomaly ORPHA:1131
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Dyskeratosis Congenita
Neoplasm of the pancreas, Neoplasm, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Lymph... ORPHA:1775
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Mast Cell Sarcoma
Sarcoma, Hepatomegaly, Splenomegaly ORPHA:66661
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Juvenile Polyposis Syndrome
Small intestinal polyposis, Neoplasm of the pancreas, Hepatic arteriovenous malformation, Stomach... ORPHA:2929
Large Congenital Melanocytic Nevus
Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin ORPHA:626
Liposarcoma
Sarcoma ORPHA:69078
Rhabdoid Tumor
Neoplasm of the central nervous system, Neoplasm of the liver, Sarcoma, Renal neoplasm ORPHA:69077
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Gitelman Syndrome
Neoplasm of the pancreas, Parathyroid adenoma ORPHA:358
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
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Holoprosencephaly
Hydrocephalus, Holoprosencephaly, Short neck, Spinal dysraphism, Branchial anomaly, Encephalocele ORPHA:2162
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Atypical pulmonary carcinoid tumor, Prostate cancer, Neuroendocrine ... ORPHA:99889
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... OMIM:131100
Werner Syndrome
Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane... ORPHA:902
Yellow Nail Syndrome
Neoplasm, Renal neoplasm, Neoplasm of the lung, Biliary tract neoplasm, Sarcoma ORPHA:662
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Adrenocortical adenoma, Neuroendocrine neoplasm, ... ORPHA:276152
Distal 22Q11.2 Microdeletion Syndrome
Growth delay, Branchial fistula, Intrauterine growth retardation, Short stature ORPHA:261330
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Limitation of neck motion, Meningocele,... ORPHA:268810
Oligomeganephronia
Branchial cyst ORPHA:2260
Fanconi Anemia, Complementation Group E
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:600901
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
Growth delay, Cystic hygroma, Increased nuchal translucency, Branchial anomaly ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Growth delay, Cystic hygroma, Increased nuchal translucency, Branchial anomaly ORPHA:352665
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Fanconi Anemia, Complementation Group A
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:227650
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, Webbed neck, Low posterior hairline, Branchial fistula ORPHA:261337
Alg3-Cdg
Neural tube defect ORPHA:79321
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma OMIM:180200
Fanconi Anemia, Complementation Group C
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:227645
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Testicular neoplasm, Neoplasm of the breast, Polycystic ovaries, Goiter, Sarcoma, Abnormal testis... ORPHA:457059
Treacher-Collins Syndrome
Branchial fistula, Encephalocele ORPHA:861
Mastocytosis
Hepatomegaly, Splenomegaly, Sarcoma, Chronic leukemia, Acute leukemia ORPHA:98292
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... ORPHA:790
Iniencephaly
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Rhizomelia, C... ORPHA:63259
Fanconi Anemia, Complementation Group D2
Annular pancreas, Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:227646
Branchiooculofacial Syndrome
Short neck, Branchial anomaly, Postnatal growth retardation, Intrauterine growth retardation, Low... OMIM:113620
Neurofibromatosis Type 1
Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Pheochromocytoma, Multiple lipoma... ORPHA:636
Monosomy 22
Aplasia of the thymus, Hepatosplenomegaly, Meningioma, Schwannoma, Sarcoma, Gonadal neoplasm ORPHA:96123
Witteveen-Kolk Syndrome
Growth delay, Branchial fistula, Intrauterine growth retardation, Short stature OMIM:613406
8Q24.3 Microdeletion Syndrome
Short stature, Short neck, Spina bifida occulta, Infancy onset short-trunk short stature, Branchi... ORPHA:508488
Craniofacial Microsomia
Hydrocephalus, Occipital encephalocele, Branchial anomaly OMIM:164210
Semilobar Holoprosencephaly
Growth delay, Hydrocephalus, Neural tube defect, Short stature ORPHA:220386
Alobar Holoprosencephaly
Growth delay, Hydrocephalus, Neural tube defect, Short stature ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Hydrocephalus, Neural tube defect, Short stature ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Hydrocephalus, Neural tube defect, Short stature ORPHA:93924
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
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
Nsmce2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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