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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

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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
abnormal neural tube closure 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 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
embryonic growth retardation Nsmce2em1(IMPC)Bay HET E9.5 0.00
abnormal embryo size Nsmce2em1(IMPC)Bay HET E9.5 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 HOM E9.5 0.00
preweaning lethality, complete penetrance Nsmce2em1(IMPC)Bay HOM   Early adult 0.00
abnormal embryo turning Nsmce2em1(IMPC)Bay HOM E9.5 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.

Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of left fundus

30 Images

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MicroCT E9.5

Embryo reconstruction

12 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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X-ray

XRay Images Forepaw

8 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 right fundus

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 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 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
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine 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
Melanoma, Pancreatic squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Pancreatic a... OMIM:606719
Serrated Polyposis Syndrome
Melanoma, Prostate cancer, Breast carcinoma, Biliary tract neoplasm, Bladder carcinoma, Colorecta... ORPHA:157798
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Hereditary Breast And/Or Ovarian Cancer Syndrome
Melanoma, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Primary peritoneal carcino... ORPHA:145
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Osteo... OMIM:151623
Li-Fraumeni Syndrome
Acute lymphoblastic leukemia, Colorectal polyposis, Astrocytoma, Neoplasm of the central nervous ... ORPHA:524
Nut Midline Carcinoma
Neoplasm, Ewing sarcoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cel... 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 pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach 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
Renal cortical adenoma, Parathyroid carcinoma, Recurrent pancreatitis, Papillary renal cell carci... OMIM:145001
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Breast carcinoma, Stomach cancer, Sarcoma OMIM:609265
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Bladder neoplasm, Neoplasm of the rectum, Seborrheic keratosis, Colon cancer, Meningioma, Breast ... ORPHA:454840
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... ORPHA:247806
Familial Adenomatous Polyposis 3
Bladder neoplasm, Colon cancer, Meningioma, Prostate cancer, Breast carcinoma, Pancreatic adenoca... OMIM:616415
Infantile Myofibromatosis
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Benign neoplasm of the cen... ORPHA:2591
Lynch Syndrome 5
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... OMIM:614350
Desmoplastic Small Round Cell Tumor
Abnormality of the peritoneum, Neoplasm of the pancreas, Neoplasm of the lung, Hepatomegaly, Ovar... ORPHA:83469
Gardner Syndrome
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... ORPHA:79665
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis, Zollinger-Ellison sy... ORPHA:438274
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
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
Neoplasm of the rectum, Neoplasm, Renal cell carcinoma, Neoplasm of the nose, Esophageal neoplasm... ORPHA:2869
Familial Colorectal Cancer Type X
Hepatocellular carcinoma, Neoplasm of the rectum, Neoplasm of the thyroid gland, Renal neoplasm, ... ORPHA:440437
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation ORPHA:1296
Familial Adenomatous Polyposis
Biliary tract obstruction, Adenocarcinoma of the small intestine, Colorectal polyposis, Astrocyto... ORPHA:733
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Renal cell carcinoma, Melanoma, Adenocarcinoma of the small intestin... ORPHA:79501
Lynch Syndrome
Hepatocellular carcinoma, Neoplasm of the rectum, Neoplasm of the thyroid gland, Colon cancer, Ne... ORPHA:144
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Von Hippel-Lindau Syndrome
Pulmonary capillary hemangiomatosis, Hepatic hemangioma, Renal cell carcinoma, Cerebellar hemangi... OMIM:193300
Peripheral Primitive Neuroectodermal Tumor
Jaundice, Uterine neoplasm, Neoplasm of the pancreas, Brain neoplasm, Pancreatitis, Peripheral pr... ORPHA:370348
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Jaundice, Melanoma, Colon cancer, Neoplasm of the liver, Breast carcinoma, El... ORPHA:1333
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Grfoma
Elevated circulating growth hormone concentration, Intermittent jaundice, Adrenocortical adenoma,... ORPHA:97261
Peutz-Jeghers Syndrome
Biliary tract abnormality, Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Neoplasm... OMIM:175200
Undifferentiated Pleomorphic Sarcoma
Abnormality of the peritoneum, Soft tissue sarcoma ORPHA:2023
Tropical Pancreatitis
Jaundice, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreatic adenocarcinoma, A... ORPHA:103918
Ppoma
Elevated circulating growth hormone concentration, Intermittent jaundice, Adrenocortical adenoma,... ORPHA:97278
Maffucci Syndrome
Goiter, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Hemangiomatosis, Breas... ORPHA:163634
Cancer-Associated Retinopathy
Thymoma, Cutaneous melanoma, Small cell lung carcinoma, Malignant genitourinary tract tumor, Uter... ORPHA:71505
Somatostatinoma
Gallbladder dysfunction, Elevated circulating growth hormone concentration, Intermittent jaundice... ORPHA:97283
Vipoma
Benign gastrointestinal tract tumors, Elevated circulating growth hormone concentration, Intermit... ORPHA:97282
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Neoplasm, Elevated hepatic transaminase, Hepatic steatosis ORPHA:2959
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Multiple Endocrine Neoplasia Type 1
Thymoma, Parathyroid carcinoma, Meningioma, Insulinoma, Multiple lipomas, Pituitary gonadotropic ... ORPHA:652
Carney Complex
Neoplasm of the pharynx, Cutaneous myxoma, Euthyroid multinodular goiter, Leydig cell neoplasia, ... ORPHA:1359
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Pancreatitis, Fibroma, Thyroid carcinoma, Pancreatic adenocarcinoma, Lipoma, Ute... ORPHA:99880
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Parathyroid Carcinoma
Renal hamartoma, Parathyroid carcinoma, Pancreatitis, Fibroma, Pancreatic adenocarcinoma, Thyroid... ORPHA:143
Von Hippel-Lindau Disease
Renal cell carcinoma, Pancreatic endocrine tumor, Cerebellar hemangioblastoma, Neoplasm of the pa... ORPHA:892
Verheij Syndrome
Short neck, Intrauterine growth retardation, Short stature, Branchial cyst, Growth delay OMIM:615583
Ollier Disease
Hemangioma, Neoplasm, Visceral angiomatosis, Multiple enchondromatosis, Chondrosarcoma, Sarcoma ORPHA:296
Glucagonoma
Elevated circulating growth hormone concentration, Intermittent jaundice, Adrenocortical adenoma,... ORPHA:97280
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Webbed neck, Short stature ORPHA:1131
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Dyskeratosis Congenita
Neoplasm, Neoplasm of the pancreas, Hepatomegaly, Cirrhosis, Lymphoma, Hepatic failure, Abnormal ... ORPHA:1775
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Sarcoma ORPHA:66661
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst, Short stature ORPHA:50815
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Juvenile Polyposis Syndrome
Rectal polyposis, Intestinal polyp, Juvenile colonic polyposis, Hepatic arteriovenous malformatio... ORPHA:2929
Large Congenital Melanocytic Nevus
Neoplasm, Cutaneous melanoma, Neoplasm of the skin, Rhabdomyosarcoma, Sarcoma ORPHA:626
Liposarcoma
Sarcoma ORPHA:69078
Familial Adenomatous Polyposis 1
Carcinoma, Adrenocortical adenoma, Colon cancer, Small intestine carcinoid, Multiple gastric poly... OMIM:175100
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Sarcoma ORPHA:69077
Craniorachischisis
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Myelomeningocele, Anencephaly ORPHA:63260
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Branchial anomaly, Increased nuchal translucency, Cystic hygroma, Intrauterine growth retardation ORPHA:453499
Bor Syndrome
Branchial cyst ORPHA:107
Attenuated Familial Adenomatous Polyposis
Papilloma, Colorectal polyposis, Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Fibrom... ORPHA:220460
Gitelman Syndrome
Neoplasm of the pancreas, Parathyroid adenoma ORPHA:358
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Holoprosencephaly
Encephalocele, Spinal dysraphism, Hydrocephalus, Short neck, Holoprosencephaly, Branchial anomaly ORPHA:2162
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Small cell lung carcinoma, Pancreatic endocrine tumor, Small intestine carci... ORPHA:99889
Gastrointestinal Stromal Tumor
Neoplasm of the rectum, Abnormality of the liver, Neoplasm of the stomach, Gastrointestinal strom... ORPHA:44890
Multiple Endocrine Neoplasia, Type I
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Adenoma seba... OMIM:131100
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Limitation of neck motion, Lipomyelomeningocele, Occipital meningocel... ORPHA:268810
Yellow Nail Syndrome
Renal neoplasm, Neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Sarcoma ORPHA:662
Werner Syndrome
Neoplasm, Melanoma, Cutaneous melanoma, Renal neoplasm, Squamous cell carcinoma, Meningioma, Brea... ORPHA:902
Multiple Endocrine Neoplasia Type 4
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Insulinoma, Cervix c... ORPHA:276152
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Short stature, Intrauterine growth retardation, Growth delay ORPHA:261330
Fanconi Anemia, Complementation Group E
Leukemia, Cryptorchidism, Prolonged G2 phase of cell cycle OMIM:600901
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Increased nuchal translucency, Cystic hygroma, Growth delay ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Increased nuchal translucency, Cystic hygroma, Growth delay ORPHA:352665
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
Leukemia, Cryptorchidism, Prolonged G2 phase of cell cycle OMIM:227650
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Low posterior hairline, Branchial fistula, Hydrocephalus ORPHA:261337
Alg3-Cdg
Neural tube defect ORPHA:79321
Retinoblastoma
Lymphoma, Pinealoma, Ewing sarcoma, Leukemia, Osteosarcoma, Retinoblastoma OMIM:180200
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Neoplasm of the thyroid gland, Goiter, Polycystic ovaries, Neoplasm of the breast, Abnormal testi... ORPHA:457059
Treacher-Collins Syndrome
Encephalocele, Branchial fistula ORPHA:861
Fanconi Anemia, Complementation Group C
Leukemia, Cryptorchidism, Prolonged G2 phase of cell cycle OMIM:227645
Mastocytosis
Hepatomegaly, Chronic leukemia, Acute leukemia, Splenomegaly, Sarcoma ORPHA:98292
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Natal tooth, Branchial cyst, Short stature, Intrauterine growth retardation OMIM:620186
Retinoblastoma
Lymphoma, Melanoma, Ewing sarcoma, Glioma, Leukemia, Pineoblastoma, Leiomyosarcoma, Osteosarcoma,... ORPHA:790
Fanconi Anemia, Complementation Group D2
Leukemia, Annular pancreas, Cryptorchidism, Prolonged G2 phase of cell cycle OMIM:227646
8Q24.3 Microdeletion Syndrome
Short neck, Infancy onset short-trunk short stature, Intrauterine growth retardation, Short statu... ORPHA:508488
Neurofibromatosis Type 1
Neoplasm, Spinal neurofibroma, Cryptorchidism, Meningioma, Leukemia, Pheochromocytoma, Astrocytom... ORPHA:636
Branchiooculofacial Syndrome
Short neck, Low posterior hairline, Intrauterine growth retardation, Branchial anomaly, Postnatal... OMIM:113620
Monosomy 22
Hepatosplenomegaly, Meningioma, Schwannoma, Gonadal neoplasm, Aplasia of the thymus, Sarcoma ORPHA:96123
Witteveen-Kolk Syndrome
Branchial fistula, Short stature, Intrauterine growth retardation, Growth delay OMIM:613406
Craniofacial Microsomia
Branchial anomaly, Occipital encephalocele, Hydrocephalus OMIM:164210
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Short stature, Growth delay ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Short stature, Growth delay ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Short stature, Growth delay ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Short stature, Growth delay ORPHA:93924
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect, Delayed eruption of teeth, Short neck ORPHA:798
Seckel Syndrome 10
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine 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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