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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
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Spermatogenic Failure 17
Male infertility OMIM:617214
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Mastocytosis, Splenomegaly, Abnormal mast ce... ORPHA:98848
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Cutaneous mastocytosis ORPHA:280785
Mast Cell Sarcoma
Splenomegaly, Mastocytosis ORPHA:66661
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukemia, Leukocytosis, Hepatospl... ORPHA:98850
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ... OMIM:608203
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Immunodeficiency 32B
Anemia, Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Eosinophilia, Neutrophilia, Th... OMIM:226990
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia, Pneumonia OMIM:266265
Chédiak-Higashi Syndrome
Anemia, Increased proportion of CD25+ mast cells, Hemophagocytosis, Periodontitis, Pancytopenia, ... ORPHA:167
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid dermatitis, Gran... OMIM:618935
Necrobiosis Lipoidica
Granuloma, Inflammatory abnormality of the skin, Abnormality of neutrophil physiology ORPHA:542592
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal a... OMIM:613470
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... OMIM:618986
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Rectal abscess, Discoid lupus rash, Granulomatosis, Recurrent bacterial skin infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Rectal abscess, Discoid lupus rash, Granulomatosis, Recurrent bacterial skin infec... OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Rectal abscess, Discoid lupus rash, Granulomatosis, Recurrent bacterial skin infec... OMIM:233690
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Periodontitis, Recurrent bacterial skin infections, Impaired neutrophil... OMIM:214500
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Rectal abscess, Discoid lupus rash, Granulomatosis, Recurrent bacterial skin infec... OMIM:306400
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... 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.

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

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