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Gene: Pip5k1b MGI:107930

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
phosphatidylinositol-4-phosphate 5-kinase, type 1 beta
Synonyms:
Pipk5b

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IMPC Data Collections

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

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.

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 Pip5k1b 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 Pip5k1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nondisjunction
Decreased fertility OMIM:158250
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Spermatogenic Failure 17
Male infertility OMIM:617214
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto... ORPHA:98848
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma ORPHA:280785
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen... ORPHA:98850
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Immunodeficiency 32B
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... OMIM:226990
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media OMIM:266265
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Thro... ORPHA:167
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... OMIM:618935
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... OMIM:613470
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia ORPHA:2135
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233690
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Thrombocytopenia,... OMIM:214500
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:306400
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968

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 Pip5k1b

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 Pip5k1b.

No publications found that use IMPC mice or data for Pip5k1b.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pip5k1btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pip5k1btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pip5k1btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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