Not currently registered for phenotyping at IMPC

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

Gene Summary

phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology 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
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Increased circula... OMIM:615285
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Hepatomegaly, Neutropenia, Normocytic anemia, Leukopenia,... ORPHA:811
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Mast Cell Sarcoma
Weight loss, Mastocytosis, Hepatomegaly, Splenomegaly ORPHA:66661
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Indolent Systemic Mastocytosis
Hepatomegaly, Abnormal mast cell morphology, Splenomegaly, Increased proportion of CD25+ mast cel... ORPHA:98848
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Ch├ędiak-Higashi Syndrome
Abnormal natural killer cell morphology, Dementia, Neutropenia, Abnormal platelet function, Throm... ORPHA:167
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia... OMIM:214500
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Weight loss, Anemia, Abnormal mast cell mo... ORPHA:98850
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG... ORPHA:3132
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Incr... OMIM:614470
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody l... OMIM:308240
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst, Lymphopeni... OMIM:618935
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Decreased circulating IgA level, Failure to thrive, Impaired memory B ... OMIM:308230
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Normochromic anemia, C... ORPHA:98849
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Weight loss, Bone marrow hypocellularity, Splenomegal... ORPHA:3226
Aregenerative Anemia
Dementia, Neutropenia, Abnormal proportion of CD8-positive T cells, Cognitive impairment, Bone ma... ORPHA:101096
Leukocyte Adhesion Deficiency
Leukocytosis, Thrombocytosis, Peritonitis, Polycythemia, Bone marrow hypocellularity, Acute myelo... ORPHA:2968
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Failure to thrive, Increased circulating IgG level,... ORPHA:169154
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Obesity, Poor eye contact ORPHA:444002
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Weight loss, Anemia, Abnormality of the pancreas, Neutrophilia, Elevated hepatic t... ORPHA:54251
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Failure to thrive, Neutrophilia, Hepatosplenomegaly, Acute hepatic fai... OMIM:619644
X-Linked Lymphoproliferative Disease
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... ORPHA:2442
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Splenomegaly, Impaired oxidative burst, Rectal abscess, Granulomatosis, Liver abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Splenomegaly, Impaired oxidative burst, Rectal abscess, Granulomatosis, Liver abscess OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Splenomegaly, Impaired oxidative burst, Rectal abscess, Granulomatosis, Liver abscess OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Splenomegaly, Impaired oxidative burst, Rectal abscess, Granulomatosis, Liver abscess OMIM:306400
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Dementia, Semantic dementia, Memory impairment ORPHA:1020
Adult-Onset Still Disease
Leukocytosis, Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, E... ORPHA:829
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Increas... OMIM:617099
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Elevated hepatic transaminase, Thrombocytopenia, ... ORPHA:91547
Cryptogenic Organizing Pneumonia
Leukocytosis, Weight loss, Neutrophilia ORPHA:1302
Hepatomegaly, Acute leukemia, Chronic leukemia, Splenomegaly, Mastocytosis ORPHA:98292
Psoriasis 14, Pustular
Leukocytosis, Cholangitis, Neutrophilia OMIM:614204
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Dementia, Neoplasm of the gallbladder, Cholecystitis, Abno... ORPHA:309271
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Failure to thrive in infancy, Abscess, Splenomegaly, Neutrophilia OMIM:612852
Dopa-Responsive Dystonia
Abnormal social behavior, Fatigable weakness ORPHA:255
Weight loss, Abnormal neutrophil count, Increased circulating antibody level ORPHA:723
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Dementia, Cholangitis, Portal fibrosis, Failure to thrive, Chronic ... ORPHA:3260
Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Abnormal liver parenchyma mor... ORPHA:79318
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Progressive psychomotor deterioration, Cholecystitis ORPHA:309263
Niemann-Pick Disease Type C
Hepatomegaly, Dementia, Cognitive impairment, Bone-marrow foam cells, Progressive neurologic dete... ORPHA:646
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Hennekam-Beemer Syndrome
Failure to thrive, Mastocytosis ORPHA:2135
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Neutrophilia, Leukopenia ORPHA:36238
Leukocyte Adhesion Deficiency Type Ii
Abnormal isohemagglutinin level, Leukocytosis, Hepatomegaly, Small for gestational age, Failure t... ORPHA:99843
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Splenomegaly, Neutrophilia, Hepatosplenomegaly, In... OMIM:260920
Japanese Encephalitis
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level, Cognitive im... ORPHA:79139
Familial Mediterranean Fever
Leukocytosis, Hepatomegaly, Peritonitis, Splenomegaly, Neutrophilia OMIM:249100
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Neutrophilia, Acute myeloid le... ORPHA:3243
Fg Syndrome Type 1
Abnormal social behavior, Slender build ORPHA:93932
Hepatomegaly, Hair-pulling, Acanthocytosis, Bradyphrenia, Weight loss, Splenomegaly, Elevated cir... ORPHA:2388
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Memory impairment, Abnormal cortical gyration ORPHA:314647
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Cholecystitis ORPHA:309256
48,Xxxy Syndrome
Abnormal social behavior, Obesity ORPHA:96263
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Hepatomegaly, Leukopenia, Increased circulating IgG level, Splenomegaly, Hemoperito... ORPHA:99827
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Obesity, Impaired social interactions ORPHA:177907
Yellow Fever
Leukocytosis, Neutrophilia, Elevated circulating alanine aminotransferase concentration, Elevated... ORPHA:99829
Hair-pulling OMIM:613229
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Slender build, Abnormal social behavior, Small for gestational age ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Slender build, Abnormal social behavior, Small for gestational age ORPHA:363958
Mend Syndrome
Abnormal social behavior, Failure to thrive ORPHA:401973
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Tuberous Sclerosis Complex
Abnormal social behavior, Hepatic cysts ORPHA:805
Monosomy 22Q13.3
Obesity, Hair-pulling ORPHA:48652
Williams Syndrome
Failure to thrive in infancy, Cholelithiasis, Overfriendliness, Obesity, Abnormal social behavior ORPHA:904
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling ORPHA:447997


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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