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
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis OMIM:260570
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... OMIM:618986
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Failure to thrive OMIM:617585
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... ORPHA:811
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Mastocytosis, Weight loss ORPHA:66661
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... OMIM:615285
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast... ORPHA:98848
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Abnormal social behavior, Obesity, Attention deficit hyperactivity disorder ORPHA:444002
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Progressive language deterioration, Impaired soc... ORPHA:168782
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Weight loss, He... ORPHA:98850
Ch├ędiak-Higashi Syndrome
Elevated hepatic transaminase, Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Jaundic... ORPHA:167
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... ORPHA:3132
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, J... OMIM:214500
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly... OMIM:618935
Hsd10 Disease
Short attention span, Abnormal social behavior ORPHA:391417
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Acute leukemia,... ORPHA:3226
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Aregenerative Anemia
Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, De... ORPHA:101096
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Bone marrow hypocellularity,... ORPHA:2968
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Abnormality of the pan... ORPHA:54251
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Hepatosplenomeg... OMIM:619644
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233710
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior ORPHA:1020
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233690
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, R... OMIM:306400
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Hepatitis,... ORPHA:829
Staphylococcal Necrotizing Pneumonia
Leukopenia, Leukocytosis, Neutrophilia, Confusion ORPHA:36238
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Thrombocytopenia, Jaundice, Leukocytosis, Leukopenia... ORPHA:91547
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Increa... OMIM:617099
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Dementia, Cholecystitis, Neoplasm of... ORPHA:309271
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Abnormal social behavior, Progressive psychomotor deterioration, Cholecystitis ORPHA:309263
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly OMIM:612852
Abnormal neutrophil count, Increased circulating antibody level, Weight loss ORPHA:723
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Neutrophilia, Thrombocytosis, Cholangitis, Confusion, Eosinophilia... ORPHA:3260
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Neutropenia ORPHA:293173
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Cholangitis OMIM:614204
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Elevated hepatic transaminase, Abnormal liver parenchyma morphology, Hepatic fibrosis, Impaired n... ORPHA:79318
Childhood Absence Epilepsy
Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:64280
48,Xxxy Syndrome
Abnormal social behavior, Obesity, Attention deficit hyperactivity disorder ORPHA:96263
Bradyphrenia, Hepatomegaly, Short attention span, Elevated circulating aspartate aminotransferase... ORPHA:2388
Niemann-Pick Disease Type C
Hepatomegaly, Progressive neurologic deterioration, Bone-marrow foam cells, Splenomegaly, Jaundic... ORPHA:646
Hennekam-Beemer Syndrome
Mastocytosis, Failure to thrive ORPHA:2135
Fg Syndrome Type 1
Abnormal social behavior, Slender build, Attention deficit hyperactivity disorder ORPHA:93932
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Small for gestational age, Microcytic anemia, Leukocytosis, Anemia, F... ORPHA:99843
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... OMIM:260920
Hair-pulling OMIM:613229
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Impaired social interactions, Attention deficit hyperactivity disorder,... ORPHA:177907
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Confusion, Splenomegaly, Jaundice, ... ORPHA:99827
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Splenomegaly, Peritonitis, Leukocytosis OMIM:249100
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Cholecystitis ORPHA:309256
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Abnormal social behavior, Abnormal cortical gyration ORPHA:314647
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... ORPHA:363958
Yellow Fever
Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentration, ... ORPHA:99829
Tuberous Sclerosis Complex
Attention deficit hyperactivity disorder, Abnormal social behavior, Hepatic cysts ORPHA:805
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling OMIM:616393
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Attention deficit hyperactivity disorder OMIM:620330
Monosomy 22Q13.3
Hair-pulling, Obesity ORPHA:48652
Mend Syndrome
Failure to thrive, Abnormal social behavior ORPHA:401973
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling ORPHA:447997
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Williams Syndrome
Failure to thrive in infancy, Obesity, Attention deficit hyperactivity disorder, Cholelithiasis, ... ORPHA:904


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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter