Gene Summary

Name:
nuclear envelope integral membrane protein 2
Synonyms:
5330401P04Rik,  Tmem194b

IMPC Data Collections

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 skin morphology Nemp2em1(IMPC)Tcp HOM Early adult 0.00
abnormal spleen morphology Nemp2em1(IMPC)Tcp HOM Early adult 0.00
decreased exploration in new environment Nemp2em1(IMPC)Tcp HOM Early adult 5.43×10-08
thrombocytosis Nemp2em1(IMPC)Tcp HOM Early adult 2.37×10-05
decreased prepulse inhibition Nemp2em1(IMPC)Tcp HOM   Early adult 9.86×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

Images Ophthalmoscopy

97 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

7 Images

Gross Pathology and Tissue Collection

Images

9 Images

Human diseases caused by Nemp2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nemp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... OMIM:187950
Thrombocythemia 2
Thrombocytosis OMIM:601977
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Thrombocythemia 3
Thrombocytosis OMIM:614521
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Thrombocytosis, Hepatosplenomegaly, Microcytic anemia OMIM:604416
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Cervic... OMIM:614034
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Self-injurious behavior, Autoimmune thrombocytopenia,... ORPHA:324636
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Paratracheal lymphadenopathy, Anemia, Lymphopenia, Follicular hyperpl... OMIM:615934
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Dementia, Cholangitis, Portal fibrosis, Chronic hepatitis, Anemia, ... ORPHA:3260
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Hepatomegaly OMIM:226300
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lipid accumulation in hepatocytes, Apathy... ORPHA:20
Beta-Ketothiolase Deficiency
Leukocytosis, Apathy, Hepatomegaly, Thrombocytosis ORPHA:134
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Bone marrow hypo... OMIM:615688
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly ORPHA:71493
Hepatocellular Carcinoma
Thrombocytosis, Hepatomegaly, Hemobilia, Polycythemia, Hepatic necrosis, Anemia, Liver abscess, A... ORPHA:88673
Trichohepatoenteric Syndrome 1
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Hepatic fibrosis, Cognitive impairm... OMIM:222470
Interstitial Lung And Liver Disease
Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Anemia, Cirrhosis, Hepatic steatosis, Cholestasis OMIM:615486
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Anxiety, Macrocytic anemia OMIM:212750
Poems Syndrome
Polycythemia, Thrombocytosis, Lymphadenopathy ORPHA:2905
Syndromic Diarrhea
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Hepatic fibrosis, Hypoplasia of the... ORPHA:84064
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:212065
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Neuroleptic Malignant Syndrome
Leukocytosis, Anxiety, Thrombocytopenia, Thrombocytosis ORPHA:94093
Brucellosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Ab... ORPHA:1304
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... OMIM:105650
Leukocyte Adhesion Deficiency
Leukocytosis, Thrombocytosis, Peritonitis, Polycythemia, Bone marrow hypocellularity, Acute myelo... ORPHA:2968
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Hypochromic anemia OMIM:618213
Doors Syndrome
Thrombocytosis ORPHA:79500

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 Nemp2

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 Nemp2.

No publications found that use IMPC mice or data for Nemp2.

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MGI Allele Allele Type Produced
Nemp2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nemp2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nemp2em1(IMPC)Tcp Exon Deletion Mice

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