Gene Summary

Name:
gem nuclear organelle associated protein 5
Synonyms:
N/A

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
increased mean platelet volume Gemin5em1(IMPC)H HET   Early adult 2.16×10-05
embryonic lethality prior to organogenesis Gemin5em1(IMPC)H HOM   E9.5 0.00
preweaning lethality, complete penetrance Gemin5em1(IMPC)H HOM   Early adult 0.00

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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 Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Gemin5 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 Gemin5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
OMIM:619333

The table below shows human diseases predicted to be associated to Gemin5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Fechtner syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:153640
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Sitosterolemia 1
Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocy... OMIM:210250
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... ORPHA:274
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Acanthocytosis, Anisopoikilocytosis, Increased mean platelet ... OMIM:607330
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume OMIM:222470
Syndromic Diarrhea
Thrombocytosis, Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Increased mean platelet volume ORPHA:84064
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Iron deficien... OMIM:600903
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
OMIM:619333

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 Gemin5

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 Gemin5.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. Frontiers in cell and developmental biology (February 2022) Gemin5em1(IMPC)H PMC8918504

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MGI Allele Allele Type Produced
Gemin5em1(IMPC)H Exon Deletion Mice

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