Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1
Synonyms:
P-REX1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Prex1 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 Prex1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Decreased circulating IgG level, Partial absence of specific antibody r... OMIM:618986
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Failure to thrive, Exocrine pancreatic insufficiency, Neutrope... ORPHA:811
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Extramedulla... OMIM:615285
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Mast Cell Sarcoma
Weight loss, Mastocytosis, Hepatomegaly, Splenomegaly ORPHA:66661
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Ch├ędiak-Higashi Syndrome
Abnormal leukocyte morphology, Decreased liver function, Neutropenia, Vacuolated lymphocytes, Hem... ORPHA:167
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Aggressive Systemic Mastocytosis
Decreased liver function, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenom... ORPHA:98850
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Impaired neutrophil ... ORPHA:3132
Chediak-Higashi Syndrome
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... OMIM:214500
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Acute pancreatitis, Per... OMIM:618935
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... ORPHA:3226
Leukocyte Adhesion Deficiency
Leukocytosis, Polycythemia, Peritonitis, Impaired neutrophil chemotaxis, Thrombocytosis, Bone mar... ORPHA:2968
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Cognitive impairment, Erythroid hypopla... ORPHA:101096
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Increased ci... OMIM:308230
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Abnormality of the pancreas, Elevated hepatic transaminase, Weight l... ORPHA:54251
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Poor eye contact, Abnormal social behavior ORPHA:444002
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Hepatospl... OMIM:619644
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Aplastic anemia, B lymphocytopenia, Increased proportion of CD... ORPHA:2442
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Splenomegaly, Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Splenomegaly, Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Splenomegaly, Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst OMIM:233690
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Hepatomegaly, Splenomegaly, Granulomatosis, Rectal abscess, Granuloma, ... OMIM:306400
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Memory impairment, Abnormal social behavior ORPHA:1020
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated hepatic transaminase, Hepatitis,... ORPHA:829
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Elevated hepatic transaminase, Anemia, Thrombocytopenia, ... ORPHA:91547
Cryptogenic Organizing Pneumonia
Weight loss, Neutrophilia, Leukocytosis ORPHA:1302
Mastocytosis
Hepatomegaly, Splenomegaly, Mastocytosis, Chronic leukemia, Acute leukemia ORPHA:98292
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Splenomegaly, Abscess, Failure to thrive in infancy OMIM:612852
Psoriasis 14, Pustular
Cholangitis, Neutrophilia, Leukocytosis OMIM:614204
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Abnormal social behavior, Memory impairment, Cholecystitis... ORPHA:309271
Dopa-Responsive Dystonia
Fatigable weakness, Abnormal social behavior ORPHA:255
Pneumocystosis
Increased circulating antibody level, Weight loss, Abnormal neutrophil count ORPHA:723
Idiopathic Hypereosinophilic Syndrome
Failure to thrive, Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative dis... ORPHA:3260
Pmm2-Cdg
Failure to thrive, Impaired neutrophil chemotaxis, Elevated hepatic transaminase, Hepatic fibrosi... ORPHA:79318
Metachromatic Leukodystrophy, Juvenile Form
Cholecystitis, Progressive psychomotor deterioration, Abnormal social behavior ORPHA:309263
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Niemann-Pick Disease Type C
Hepatomegaly, Abnormal social behavior, Mental deterioration, Splenomegaly, Hepatosplenomegaly, C... ORPHA:646
Hennekam-Beemer Syndrome
Failure to thrive, Mastocytosis ORPHA:2135
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Staphylococcal Necrotizing Pneumonia
Leukopenia, Neutrophilia, Leukocytosis ORPHA:36238
Leukocyte Adhesion Deficiency Type Ii
Failure to thrive, Abnormal isohemagglutinin level, Neutrophilia, Leukocytosis, Small for gestati... ORPHA:99843
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Hyper-Igd Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:260920
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level, Neutrophilia, Cognitive im... ORPHA:79139
Sweet Syndrome
Neutrophilia, Leukocytosis, Sterile abscess, Chronic lymphatic leukemia, Anemia, Acute myeloid le... ORPHA:3243
48,Xxxy Syndrome
Obesity, Abnormal social behavior ORPHA:96263
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Peritonitis OMIM:249100
Choreoacanthocytosis
Bradyphrenia, Hepatomegaly, Splenomegaly, Mental deterioration, Elevated circulating aspartate am... ORPHA:2388
Fg Syndrome Type 1
Slender build, Abnormal social behavior ORPHA:93932
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Memory impairment, Abnormal social behavior ORPHA:314647
Metachromatic Leukodystrophy, Late Infantile Form
Cholecystitis, Abnormal social behavior ORPHA:309256
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Hemoperitoneum, Hepatic failure, Leukopen... ORPHA:99827
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Prader-Willi Syndrome Due To Translocation
Obesity, Impaired social interactions, Abnormal social behavior ORPHA:177907
Yellow Fever
Neutrophilia, Leukocytosis, Pancreatic hyperplasia, Elevated circulating aspartate aminotransfera... ORPHA:99829
Trichotillomania
Hair-pulling OMIM:613229
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Slender build, Small for gestational age, Abnormal social behavior ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Slender build, Small for gestational age, Abnormal social behavior ORPHA:363958
Mend Syndrome
Failure to thrive, Abnormal social behavior ORPHA:401973
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling OMIM:616393
Monosomy 22Q13.3
Obesity, Hair-pulling ORPHA:48652
Tuberous Sclerosis Complex
Hepatic cysts, Abnormal social behavior ORPHA:805
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling ORPHA:447997
Williams Syndrome
Overfriendliness, Cholelithiasis, Abnormal social behavior, Obesity, Failure to thrive in infancy ORPHA:904

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 Prex1

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 Prex1.

No publications found that use IMPC mice or data for Prex1.

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MGI Allele Allele Type Produced
Prex1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Prex1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prex1tm102403(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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