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 embryo turning Nsmce2em1(IMPC)Bay HET E9.5 0.00
preweaning lethality, complete penetrance Nsmce2em1(IMPC)Bay HOM   Early adult 0.00
embryonic growth retardation 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
abnormal visceral yolk sac morphology Nsmce2em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo size Nsmce2em1(IMPC)Bay HOM 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 forebrain development 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.

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Eye Morphology

VIP of right eye

31 Images

Eye Morphology

VIP of left fundus

30 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of right fundus

31 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of left fundus

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Eye Morphology

VIP of left eye

31 Images

X-ray

XRay Images Forepaw

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
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Acute pancreatiti... 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
Squamous cell carcinoma, Sarcoma, Melanoma, Oropharyngeal squamous cell carcinoma, Pancreatic ade... OMIM:606719
Serrated Polyposis Syndrome
Bladder carcinoma, Colorectal polyposis, Schwannoma, Melanoma, Breast carcinoma, Biliary tract ne... ORPHA:157798
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Hereditary Breast And Ovarian Cancer Syndrome
Primary peritoneal carcinoma, Melanoma, Breast carcinoma, Ovarian neoplasm, Prostate cancer, Neop... ORPHA:145
Li-Fraumeni Syndrome
Prostate neoplasm, Adrenocortical carcinoma, Colon cancer, Breast carcinoma, Osteosarcoma, Lung a... OMIM:151623
Li-Fraumeni Syndrome
Central primitive neuroectodermal tumor, Neoplasm of the gastrointestinal tract, Adrenocortical c... ORPHA:524
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma, Neoplasm of the pancreas ORPHA:438274
Familial Melanoma
Neoplasm of the breast, Neoplasm of the stomach, Melanoma, Neoplasm of the pancreas 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, Recurrent pancreatitis, Renal cortical adenoma, Parathyroid adenoma, Hamar... OMIM:145001
Li-Fraumeni Syndrome 2
Sarcoma, Breast carcinoma, Meningioma, Stomach cancer, Glioma OMIM:609265
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Non-Hodgkin lymphoma, Squamous cell carcinoma, Colon cancer, Breast carcinoma, Neoplasm of the re... ORPHA:454840
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Adenomatous colonic polyp... ORPHA:247806
Infantile Myofibromatosis
Sarcoma, Fibroma, Gingival fibromatosis, Benign neoplasm of the central nervous system, Neoplasm ... ORPHA:2591
Desmoplastic Small Round Cell Tumor
Sarcoma, Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Neoplasm of the central nervous sys... ORPHA:83469
Gardner Syndrome
Hepatoblastoma, Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Adenomato... ORPHA:79665
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Peutz-Jeghers Syndrome
Esophageal neoplasm, Gastrointestinal carcinoma, Abnormality of the gallbladder, Breast carcinoma... ORPHA:2869
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation ORPHA:1296
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Familial Adenomatous Polyposis
Hepatoblastoma, Neoplasm of the gastrointestinal tract, Colon cancer, Osteoma, Neoplasm of the ga... ORPHA:733
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Squamous cell carcinoma, Melanoma, Brain neoplasm, Breast carcinoma, Adenoca... ORPHA:79501
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Familial Colorectal Cancer Type X
Neuroblastoma, Uterine neoplasm, Neoplasm of the rectum, Stomach cancer, Benign neoplasm of the c... ORPHA:440437
Lynch Syndrome
Neuroblastoma, Colon cancer, Neoplasm of the rectum, Urinary tract neoplasm, Benign neoplasm of t... ORPHA:144
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas OMIM:608189
Von Hippel-Lindau Syndrome
Spinal hemangioblastoma, Paraganglioma, Pulmonary capillary hemangiomatosis, Papillary cystadenom... OMIM:193300
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Melanoma, Colon cancer, Breast carcinoma, ... 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 scrotum, Peripheral primitive neuroectodermal neoplasm, Spinal cord tumor, Brain ... ORPHA:370348
Grfoma
Cholelithiasis, Elevated circulating growth hormone concentration, Intestinal carcinoid, Subcutan... ORPHA:97261
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Precocious puberty with Sertoli cell tumor, Breast carcinoma, Uterine... OMIM:175200
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
Tropical Pancreatitis
Jaundice, Pancreatic calcification, Abnormal pancreatic duct morphology, Pancreatic adenocarcinom... ORPHA:103918
Ppoma
Cholelithiasis, Intestinal carcinoid, Subcutaneous lipoma, Parathyroid adenoma, Hepatomegaly, Ext... ORPHA:97278
Vipoma
Elevated circulating growth hormone concentration, Subcutaneous lipoma, Parathyroid adenoma, Neop... ORPHA:97282
Cancer-Associated Retinopathy
Colon cancer, Thymoma, Neoplasm of the breast, Testicular neoplasm, Uterine neoplasm, Small cell ... ORPHA:71505
Maffucci Syndrome
Multiple enchondromatosis, Sarcoma, Goiter, Neoplasm of the adrenal cortex, Chondrosarcoma, Heman... ORPHA:163634
Somatostatinoma
Subcutaneous lipoma, Medullary thyroid carcinoma, Gallbladder dysfunction, Parathyroid adenoma, H... ORPHA:97283
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Neoplasm, Elevated hepatic transaminase, Premature ovarian insufficiency, Neop... ORPHA:2959
Branchiogenic-Deafness Syndrome
Branchial cyst, Short stature, Branchial fistula OMIM:609166
Acquired Ichthyosis
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm ORPHA:454
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Adrenocort... ORPHA:652
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Carney Complex
Testicular adrenal rest tumor, Neoplasm of the breast, Ovarian carcinoma, Leydig cell neoplasia, ... ORPHA:1359
Ollier Disease
Visceral angiomatosis, Multiple enchondromatosis, Sarcoma, Lymphangioma, Chondrosarcoma, Neoplasm... ORPHA:296
Von Hippel-Lindau Disease
Paraganglioma, Papillary cystadenoma of the epididymis, Cerebellar hemangioblastoma, Pancreatic c... ORPHA:892
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Fibroma, Testicular neoplasm, Parathyroid adenoma, Primary hyperparathyroidism, ... ORPHA:99880
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Parathyroid Carcinoma
Parathyroid carcinoma, Renal hamartoma, Fibroma, Testicular neoplasm, Primary hyperparathyroidism... ORPHA:143
X-Linked Mandibulofacial Dysostosis
Microcephaly, Branchial anomaly, Short stature, Webbed neck ORPHA:1131
Glucagonoma
Subcutaneous lipoma, Parathyroid adenoma, Hepatomegaly, Extrahepatic cholestasis, Primary hyperpa... ORPHA:97280
Paraneoplastic Pemphigus
Sarcoma, B-cell lymphoma, Thymoma ORPHA:63455
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Microcephaly, Severe postnatal growth retardation ORPHA:435938
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Sarcoma ORPHA:66661
Branchiogenic Deafness Syndrome
Branchial cyst, Short stature, Branchial fistula ORPHA:50815
Dyskeratosis Congenita
Hepatic failure, Abnormal testis morphology, Lymphoma, Splenomegaly, Hepatomegaly, Neoplasm, Cirr... ORPHA:1775
Juvenile Polyposis Syndrome
Multiple lipomas, Visceral angiomatosis, Neoplasm of the gastrointestinal tract, Intestinal polyp... ORPHA:2929
Large Congenital Melanocytic Nevus
Sarcoma, Rhabdomyosarcoma, Cutaneous melanoma, Neoplasm, Neoplasm of the skin ORPHA:626
Liposarcoma
Sarcoma ORPHA:69078
Branchiootorenal Syndrome 1
Branchial cyst, Abnormal cerebral morphology, Branchial fistula OMIM:113650
Rhabdoid Tumor
Sarcoma, Renal neoplasm, Neoplasm of the liver, Neoplasm of the central nervous system ORPHA:69077
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Intrauterine growth retardation, Microcephaly, Increased nuchal translucency, Hyp... ORPHA:453499
Holoprosencephaly
Short neck, Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Anterior hypopituitari... ORPHA:2162
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Familial Adenomatous Polyposis 1
Multiple lipomas, Hepatoblastoma, Papillary thyroid carcinoma, Adrenocortical carcinoma, Colon ca... OMIM:175100
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Gitelman Syndrome
Parathyroid adenoma, Neoplasm of the pancreas ORPHA:358
Alg3-Cdg
Abnormal cerebral morphology, Cerebral white matter atrophy, Neural tube defect, Microcephaly, Hy... ORPHA:79321
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Thyroid adenoma, Fibroma, Papilloma, Adenocarcinoma of the colon, Uterine l... ORPHA:220460
Bor Syndrome
Branchial cyst ORPHA:107
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Medullary thyroid carcinoma, Atypical pulmonary carcinoid tumor, Pancr... ORPHA:99889
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Neoplasm of the gastrointestinal tract, Abnor... ORPHA:44890
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Adenoma sebaceum, Pituitary prolactin cell adenoma, Zollinger-Ellison syndro... OMIM:131100
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Agenesis of corpus callosum, Growth delay, Microcephaly, Increased nuchal translu... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Agenesis of corpus callosum, Growth delay, Microcephaly, Increased nuchal translu... ORPHA:352665
Yellow Nail Syndrome
Renal neoplasm, Sarcoma, Biliary tract neoplasm, Neoplasm, Neoplasm of the lung ORPHA:662
Distal 22Q11.2 Microdeletion Syndrome
Intrauterine growth retardation, Growth delay, Microcephaly, Short stature, Branchial fistula ORPHA:261330
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Oligomeganephronia
Branchial cyst ORPHA:2260
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Fanconi Anemia, Complementation Group E
Cryptorchidism, Prolonged G2 phase of cell cycle, Leukemia OMIM:600901
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Microcephaly, Branchial fistula, Hydrocephalus, Low posterior hairline ORPHA:261337
Fanconi Anemia, Complementation Group A
Cryptorchidism, Prolonged G2 phase of cell cycle, Leukemia OMIM:227650
Posterior Meningocele
Occipital meningocele, Lipomyelomeningocele, Neural tube defect, Hydrocephalus, Limitation of nec... ORPHA:268810
Retinoblastoma
Ewing sarcoma, Leukemia, Lymphoma, Pinealoma, Osteosarcoma, Retinoblastoma OMIM:180200
Werner Syndrome
Gastrointestinal carcinoma, Renal neoplasm, Squamous cell carcinoma, Sarcoma, Melanoma, Aplasia/H... ORPHA:902
Treacher-Collins Syndrome
Branchial fistula, Encephalocele ORPHA:861
Fanconi Anemia, Complementation Group C
Cryptorchidism, Prolonged G2 phase of cell cycle, Leukemia OMIM:227645
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Sarcoma, Polycystic ovaries, Goiter, Neoplasm of the breast, Testicular neoplasm, Neoplasm of the... ORPHA:457059
Iniencephaly
Myelomeningocele, Cystic hygroma, Rhizomelia, Anencephaly, Spinal dysraphism, Lissencephaly, Spin... ORPHA:63259
Mastocytosis
Chronic leukemia, Sarcoma, Splenomegaly, Hepatomegaly, Acute leukemia ORPHA:98292
Retinoblastoma
Ewing sarcoma, Leukemia, Rhabdomyosarcoma, Melanoma, Lymphoma, Osteosarcoma, Leiomyosarcoma, Pine... ORPHA:790
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Prolonged G2 phase of cell cycle, Leukemia, Annular pancreas OMIM:227646
Branchiooculofacial Syndrome
Short neck, Intrauterine growth retardation, Microcephaly, Postnatal growth retardation, Branchia... OMIM:113620
Neurofibromatosis Type 1
Multiple lipomas, Plexiform neurofibroma, Neoplasm of the gastrointestinal tract, Leukemia, Sarco... ORPHA:636
Monosomy 22
Hepatosplenomegaly, Schwannoma, Sarcoma, Meningioma, Gonadal neoplasm, Aplasia of the thymus ORPHA:96123
8Q24.3 Microdeletion Syndrome
Branchial cyst, Hypoplasia of the corpus callosum, Short neck, Intrauterine growth retardation, S... ORPHA:508488
Craniofacial Microsomia
Occipital encephalocele, Branchial anomaly, Agenesis of corpus callosum, Hydrocephalus OMIM:164210
Semilobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Growth delay, Abnormal morphology of the olfacto... ORPHA:220386
Alobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Growth delay, Abnormal morphology of the olfacto... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Growth delay, Abnormal morphology of the olfacto... ORPHA:93926
Lobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Growth delay, Abnormal morphology of the olfacto... ORPHA:93924
Schinzel-Giedion Syndrome
Short neck, Delayed eruption of teeth, Neural tube defect, Cerebral cortical atrophy, Hypoplasia ... ORPHA:798
Seckel Syndrome 10
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Acute pancreatiti... 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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