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Gene: Nsmce2 MGI:1915751

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Gene Summary

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

Order Alleles

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
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 HET E9.5 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
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
embryonic growth retardation 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 HET E9.5 0.00
abnormal forebrain development Nsmce2em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning 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 right eye

31 Images

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Eye Morphology

VIP of left fundus

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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Eye Morphology

VIP of left fundus

30 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of left eye

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Eye Morphology

VIP of left eye

31 Images

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of right fundus

31 Images

View images
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MicroCT E9.5

Embryo reconstruction

12 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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X-ray

XRay Images Forepaw

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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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
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu... 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, Squamous cell carcinoma, Melano... OMIM:606719
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer ORPHA:145
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom... ORPHA:157798
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
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
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast ORPHA:618
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Papillary renal cel... OMIM:145001
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Ovar... ORPHA:83469
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... ORPHA:2591
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma ORPHA:438274
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... OMIM:616415
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Peutz-Jeghers Syndrome
Neoplasm of the nose, Pancreatic adenocarcinoma, Esophageal neoplasm, Biliary tract neoplasm, Enl... ORPHA:2869
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Jaundice, Spinal cord tumor, Ovarian neoplasm, Peripher... ORPHA:370348
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, Hepatosplen... ORPHA:1333
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Soft tissue sarcoma ORPHA:2023
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma... OMIM:175200
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... ORPHA:97261
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97278
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Neoplasm, Hepatic steatosis, Elevated hepatic transaminase ORPHA:2959
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:99880
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97283
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Elevated circulating growth... ORPHA:97282
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:143
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Carney Complex
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... ORPHA:1359
Verheij Syndrome
Branchial cyst, Short stature, Short neck, Growth delay, Intrauterine growth retardation OMIM:615583
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma ORPHA:296
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97280
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Short stature, Webbed neck ORPHA:1131
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Splenomegaly, Lymphoma, Neoplasm, Cirrhosis, Hepatic fail... ORPHA:1775
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Sarcoma ORPHA:66661
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Liposarcoma
Sarcoma ORPHA:69078
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Sarcoma ORPHA:69077
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Increased nuchal translucency, Intrauterine growth retardation, Branchial anomaly, Cystic hygroma ORPHA:453499
Bor Syndrome
Branchial cyst ORPHA:107
Gitelman Syndrome
Parathyroid adenoma, Neoplasm of the pancreas ORPHA:358
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Juvenile gastrointestinal polyposis, Juvenile colonic polyposis, Viscer... ORPHA:2929
Holoprosencephaly
Encephalocele, Short neck, Hydrocephalus, Spinal dysraphism, Branchial anomaly, Holoprosencephaly ORPHA:2162
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... ORPHA:99889
Isolated Posterior Meningocele
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... ORPHA:268810
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Yellow Nail Syndrome
Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Sarcoma ORPHA:662
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Werner Syndrome
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... ORPHA:902
Fanconi Anemia, Complementation Group E
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:600901
Distal 22Q11.2 Microdeletion Syndrome
Growth delay, Branchial fistula, Short stature, Intrauterine growth retardation ORPHA:261330
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... ORPHA:276152
Fanconi Anemia, Complementation Group A
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:227650
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
Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Growth delay ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Growth delay ORPHA:352665
Oligomeganephronia
Branchial cyst ORPHA:2260
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Alg3-Cdg
Neural tube defect ORPHA:79321
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Hydrocephalus, Low posterior hairline, Webbed neck ORPHA:261337
Fanconi Anemia, Complementation Group C
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:227645
Treacher-Collins Syndrome
Encephalocele, Branchial fistula ORPHA:861
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... ORPHA:63259
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle, Annular pancreas OMIM:227646
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Short stature, Intrauterine growth retardation OMIM:620186
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Abnormality of the liver, Esophageal neoplasm, Sarcoma ORPHA:44890
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
8Q24.3 Microdeletion Syndrome
Branchial cyst, Infancy onset short-trunk short stature, Short stature, Short neck, Intrauterine ... ORPHA:508488
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Neurofibromatosis Type 1
Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromo... ORPHA:636
Branchiooculofacial Syndrome
Short neck, Postnatal growth retardation, Low posterior hairline, Branchial anomaly, Intrauterine... OMIM:113620
Monosomy 22
Aplasia of the thymus, Schwannoma, Hepatosplenomegaly, Gonadal neoplasm, Meningioma, Sarcoma ORPHA:96123
Witteveen-Kolk Syndrome
Growth delay, Branchial fistula, Short stature, Intrauterine growth retardation OMIM:613406
Craniofacial Microsomia 1
Occipital encephalocele, Branchial anomaly, Hydrocephalus OMIM:164210
Semilobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:220386
Alobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93924
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Umbilical hernia, Neural tube defect, Short neck ORPHA:798
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu... 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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