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Gene: Nhp2 MGI:1098547

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Gene Summary

Name:
NHP2 ribonucleoprotein
Synonyms:
H/ACA small nucleolar RNPs,  Nola2,  NHP2,  2410130M07Rik,  D11Ertd175e

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IMPC Data Collections

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
increased mean platelet volume Nhp2tm1a(KOMP)Wtsi HET Early adult 7.05×10-05
preweaning lethality, complete penetrance Nhp2tm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased circulating fructosamine level Nhp2tm1a(KOMP)Wtsi HET   Early adult 2.79×10-05
decreased total body fat amount Nhp2tm1a(KOMP)Wtsi HET Early adult 2.44×10-06
increased body length Nhp2tm1a(KOMP)Wtsi HET Early adult 4.95×10-07

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 Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Legacy Phenotype Associated Images
Nhp2tm1a(KOMP)Wtsi
HET, Female, WTSI
Nhp2tm1a(KOMP)Wtsi
HET, Female, WTSI
Nhp2tm1a(KOMP)Wtsi
HET, Female, WTSI
Nhp2tm1a(KOMP)Wtsi
HET, Female, WTSI
Nhp2tm1a(KOMP)Wtsi
HET, Female, WTSI

View all 80 images

Nhp2tm1a(KOMP)Wtsi
HET, Male, WTSI
Nhp2tm1a(KOMP)Wtsi
HET, Male, WTSI
Nhp2tm1a(KOMP)Wtsi
HET, Unsexed, WTSI
Nhp2tm1a(KOMP)Wtsi
WT, Female, WTSI
Nhp2tm1a(KOMP)Wtsi
WT, Female, WTSI
Nhp2tm1a(KOMP)Wtsi
abnormal digit morphology, HET, Female, WTSI

Human diseases caused by Nhp2 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 Nhp2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Dyskeratosis Congenita
Anemia, Thrombocytopenia, Abnormality of neutrophils, Splenomegaly ORPHA:1775

The table below shows human diseases predicted to be associated to Nhp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Slc35A1-Cdg
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia ORPHA:238459
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Inguinal hernia, Increased mean platelet volume, Camptodactyly OMIM:616737
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia, Camptodactyly OMIM:611209
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Syndromic Diarrhea
Inguinal hernia, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thromboc... ORPHA:84064
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... OMIM:607330
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Inguinal hernia, Increased mean platelet volume, Flexion contracture, Camptodactyly, Thrombocytop... ORPHA:487796
Trichohepatoenteric Syndrome 1
Splenomegaly, Thrombocytosis, Increased mean platelet volume OMIM:222470
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Cellulitis OMIM:617718
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Dyskeratosis Congenita
Anemia, Thrombocytopenia, Abnormality of neutrophils, Splenomegaly ORPHA:1775

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 Nhp2

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 Nhp2.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Nhp2tm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Nhp2tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Nhp2tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Nhp2tm1a(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Nhp2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nhp2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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