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

Download data as:  TSV  XLS

Select physiological systems to view:
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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

30 Images

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Eye Morphology

VIP of left eye

31 Images

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Eye Morphology

VIP of left fundus

16 Images

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Eye Morphology

VIP of right eye

31 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of right fundus

31 Images

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Eye Morphology

VIP of left eye

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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Eye Morphology

VIP of right fundus

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
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 Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Forepaw

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
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... 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, Sarcoma, Squamous cell carcinom... OMIM:606719
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Breast carcinoma, Colorectal polyposis, Bladder carcinoma, Prostate ca... ORPHA:157798
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Hereditary Breast And Ovarian Cancer Syndrome
Breast carcinoma, Prostate cancer, Neoplasm of the pancreas, Melanoma, Primary peritoneal carcino... ORPHA:145
Li-Fraumeni Syndrome
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... OMIM:151623
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... ORPHA:524
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... 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
Neoplasm of the stomach, Neoplasm of the pancreas, Melanoma, 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
Nephroblastoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Parathyroid adenoma, Papillary... OMIM:145001
Li-Fraumeni Syndrome 2
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma OMIM:609265
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam... ORPHA:454840
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... ORPHA:247806
Familial Adenomatous Polyposis 3
Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Duodenal adenocarcinoma, Basal cell... OMIM:616415
Infantile Myofibromatosis
Fibroma, Benign neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Gingiv... ORPHA:2591
Lynch Syndrome 5
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... OMIM:614350
Gardner Syndrome
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea... ORPHA:79665
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Abno... ORPHA:83469
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abnormal biliary tract morphology, Glucagonoma, Cholelithiasis, Zolling... ORPHA:438274
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Breast carcinoma, Neoplasm of the nose, Stomach cancer, Neoplasm of th... ORPHA:2869
Familial Colorectal Cancer Type X
Pancreatic adenocarcinoma, Benign neoplasm of the central nervous system, Stomach cancer, Urinary... ORPHA:440437
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation ORPHA:1296
Familial Adenomatous Polyposis
Fibroma, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ependymom... ORPHA:733
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Breast carcinoma, Stomach cancer, Adenocarcinoma of the small intestin... ORPHA:79501
Lynch Syndrome
Pancreatic adenocarcinoma, Benign neoplasm of the central nervous system, Urinary tract neoplasm,... ORPHA:144
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Neoplasm of the pancreas, Retinal capillary hemangioma, P... OMIM:193300
Peripheral Primitive Neuroectodermal Tumor
Jaundice, Neoplasm of the pancreas, Spinal cord tumor, Neoplasm of the scrotum, Brain neoplasm, P... ORPHA:370348
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Breast carcinoma, Extrahepatic cholestasis, Peritoneal abscess, Neopla... ORPHA:1333
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Grfoma
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the thymus, Increased circulating pr... ORPHA:97261
Peutz-Jeghers Syndrome
Breast carcinoma, Ovarian cyst, Gastrointestinal carcinoma, Neoplasm of the pancreas, Multiple ga... OMIM:175200
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Ppoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... ORPHA:97278
Maffucci Syndrome
Breast carcinoma, Astrocytoma, Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm o... ORPHA:163634
Cancer-Associated Retinopathy
Pancreatic adenocarcinoma, Thymoma, Prostate cancer, Uterine neoplasm, Neoplasm of the pancreas, ... ORPHA:71505
Somatostatinoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... ORPHA:97283
Vipoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... ORPHA:97282
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Neoplasm, Neoplasm of the pancreas, Elevated hepatic transaminase ORPHA:2959
Acquired Ichthyosis
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm ORPHA:454
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Ependymoma, Neoplasm of... ORPHA:652
Carney Complex
Esophageal neoplasm, Neoplasm of the pancreas, Cutaneous myxoma, Hepatocellular carcinoma, Oligos... ORPHA:1359
Ollier Disease
Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Hemangioma, Neoplasm, ... ORPHA:296
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Nephroblastoma, Pancreatic adenocarcinoma, Parathyroid adenoma, Thyroid carcinoma, Renal... ORPHA:99880
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Parathyroid Carcinoma
Fibroma, Nephroblastoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Renal hamartoma, Abnormali... ORPHA:143
Von Hippel-Lindau Disease
Pancreatic cysts, Pancreatic endocrine tumor, Renal cell carcinoma, Neoplasm of the pancreas, Ret... ORPHA:892
Glucagonoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... ORPHA:97280
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Short stature ORPHA:1131
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Progressive Osseous Heteroplasia
Sarcoma, Abnormality of the parathyroid gland ORPHA:2762
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Dyskeratosis Congenita
Lymphoma, Cirrhosis, Hepatic failure, Abnormal testis morphology, Neoplasm of the pancreas, Neopl... ORPHA:1775
Mast Cell Sarcoma
Sarcoma, Splenomegaly, Hepatomegaly ORPHA:66661
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Juvenile Polyposis Syndrome
Hamartomatous stomach polyps, Multiple lipomas, Juvenile colonic polyposis, Hepatic arteriovenous... ORPHA:2929
Large Congenital Melanocytic Nevus
Sarcoma, Neoplasm of the skin, Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma ORPHA:626
Liposarcoma
Sarcoma ORPHA:69078
Familial Adenomatous Polyposis 1
Fibroma, Multiple lipomas, Medulloblastoma, Astrocytoma, Duodenal polyposis, Odontoma, Adrenocort... OMIM:175100
Rhabdoid Tumor
Renal neoplasm, Sarcoma, Neoplasm of the liver, Neoplasm of the central nervous system ORPHA:69077
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Intrauterine growth retardation ORPHA:453499
Bor Syndrome
Branchial cyst ORPHA:107
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t... ORPHA:220460
Gitelman Syndrome
Neoplasm of the pancreas, Parathyroid adenoma ORPHA:358
Holoprosencephaly
Spinal dysraphism, Encephalocele, Branchial anomaly, Hydrocephalus, Holoprosencephaly, Short neck ORPHA:2162
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Malignant gastrointestinal tract tumors, Pituitary corticotropic cell ... ORPHA:99889
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Abnormality of the liver, Neoplasm of the gastrointestinal tract, Sarcom... ORPHA:44890
Multiple Endocrine Neoplasia, Type I
Increased circulating prolactin concentration, Parathyroid adenoma, Adenoma sebaceum, Pituitary a... OMIM:131100
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Posterior Meningocele
Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Limitation of neck motion,... ORPHA:268810
Werner Syndrome
Breast carcinoma, Ovarian neoplasm, Thyroid carcinoma, Abnormal testis morphology, Sarcoma, Squam... ORPHA:902
Yellow Nail Syndrome
Sarcoma, Biliary tract neoplasm, Renal neoplasm, Neoplasm, Neoplasm of the lung ORPHA:662
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Pituitary null cell adenoma, Pituitary... ORPHA:276152
Distal 22Q11.2 Microdeletion Syndrome
Growth delay, Branchial fistula, Intrauterine growth retardation, Short stature ORPHA:261330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Growth delay, Increased nuchal translucency, Branchial anomaly, Cystic hygroma ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Growth delay, Increased nuchal translucency, Branchial anomaly, Cystic hygroma ORPHA:352665
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle, Leukemia, Cryptorchidism OMIM:600901
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 A
Prolonged G2 phase of cell cycle, Leukemia, Cryptorchidism OMIM:227650
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Alg3-Cdg
Neural tube defect ORPHA:79321
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Hydrocephalus, Branchial fistula, Low posterior hairline ORPHA:261337
Retinoblastoma
Lymphoma, Retinoblastoma, Pinealoma, Ewing sarcoma, Osteosarcoma, Leukemia OMIM:180200
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal testis morphology, Sarcoma, Neoplasm of the thyroid gland, Polycystic ovaries, T... ORPHA:457059
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle, Leukemia, Cryptorchidism OMIM:227645
Treacher-Collins Syndrome
Branchial fistula, Encephalocele ORPHA:861
Mastocytosis
Sarcoma, Hepatomegaly, Acute leukemia, Splenomegaly, Chronic leukemia ORPHA:98292
Retinoblastoma
Lymphoma, Retinoblastoma, Leiomyosarcoma, Melanoma, Ewing sarcoma, Pineoblastoma, Osteosarcoma, G... ORPHA:790
Iniencephaly
Spinal dysraphism, Encephalocele, Myelomeningocele, Rhizomelia, Spina bifida, Anencephaly, Hydroc... ORPHA:63259
Fanconi Anemia, Complementation Group D2
Annular pancreas, Prolonged G2 phase of cell cycle, Leukemia, Cryptorchidism OMIM:227646
Sacral Defect With Anterior Meningocele
Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract OMIM:600145
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Short stature, Spina bifida occulta, Short neck, Branchi... ORPHA:508488
Neurofibromatosis Type 1
Spinal neurofibromas, Multiple lipomas, Astrocytoma, Urinary tract neoplasm, Neoplasm of the gast... ORPHA:636
Branchiooculofacial Syndrome
Branchial anomaly, Short neck, Low posterior hairline, Intrauterine growth retardation, Postnatal... OMIM:113620
Monosomy 22
Sarcoma, Gonadal neoplasm, Schwannoma, Meningioma, Hepatosplenomegaly, Aplasia of the thymus ORPHA:96123
Witteveen-Kolk Syndrome
Growth delay, Branchial fistula, Intrauterine growth retardation, Short stature OMIM:613406
Craniofacial Microsomia
Occipital encephalocele, Hydrocephalus, Branchial anomaly OMIM:164210
Semilobar Holoprosencephaly
Hydrocephalus, Growth delay, Short stature, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Growth delay, Short stature, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Growth delay, Short stature, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Growth delay, Short stature, Neural tube defect ORPHA:93924
Schinzel-Giedion Syndrome
Short neck, Delayed eruption of teeth, Umbilical hernia, Neural tube defect ORPHA:798
Seckel Syndrome 10
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... 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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