Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
quinolinate phosphoribosyltransferase
Synonyms:
nicotinate-nucleotide pyrophosphorylase,  2410027J01Rik,  QPRTase

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 Qprt 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 Qprt by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Histiocytosis, Increased circulating antibody level OMIM:235900
Barth Syndrome
Abnormality of neutrophils, Abnormal mitochondrial morphology ORPHA:111
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Papular Xanthoma
Histiocytosis ORPHA:158008
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex I, Abnormal mitochondrial morphology, Decreased activ... OMIM:618378
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Mildly elevated creatine kinase, Increased mitochondrial number ORPHA:457050
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Transcobalamin Deficiency
Pancytopenia, Abnormality of chromosome stability, Decreased circulating antibody level, Decrease... ORPHA:859
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Increased circulating interleukin 6 concentration, Abnormal natural ... OMIM:620430
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Elevated circulating C-reactive protein ... OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural killer cell phys... OMIM:613101
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... OMIM:618963
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Decreased mitochondrial number ORPHA:352470
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Decreased activity of mitochondrial complex I, Macrocytic anemia,... OMIM:615578
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Increased circulating ferritin concentr... OMIM:603552
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Immunodeficiency 27A
Anemia, Increased circulating IgG level, Leukocytosis, Increased circulating IgM level, Hepatospl... OMIM:209950
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein co... OMIM:613011
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Splenomega... OMIM:300635
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Leishmaniasis
Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophage morphology, Leuko... ORPHA:507
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Hemophagocytosis, Elevated circulating C-react... ORPHA:158061
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex I, Decreased activity of m... OMIM:500013
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein concentration, Pancytopen... ORPHA:158057
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Decreased circulating IgG level... OMIM:301078
Barth Syndrome
Hypochromic microcytic anemia, Abnormal mitochondrial morphology, Cyclic neutropenia, Granulocyto... OMIM:302060
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, H... ORPHA:540
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Hepatosple... OMIM:615122
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration OMIM:602541
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Elevated circulating creatine kinase concentration ORPHA:352447
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating ferritin concentration OMIM:618398
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mildly elevated creatine kinase, Mitochondrial swelling ORPHA:397744
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration OMIM:619518
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Elevated circulating creatine kinase concentration ORPHA:353
Autoinflammatory-Pancytopenia Syndrome
Granuloma, Hepatosplenomegaly, Hemophagocytosis, Pancytopenia OMIM:619858
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hepatosple... OMIM:619644
Hemophagocytic Lymphohistiocytosis, Familial, 2
Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Leukopenia, Splenomegaly, Hepatosplenome... OMIM:603553
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Thrombocytopenia, Hypoalbuminem... ORPHA:292
Griscelli Syndrome Type 2
Splenomegaly, Neutropenia, Hemophagocytosis, Pancytopenia ORPHA:79477
Myelofibrosis
Splenomegaly, Extramedullary hematopoiesis, Myeloproliferative disorder, Hemophagocytosis OMIM:254450
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thr... ORPHA:158048
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Sea-blue histiocytosis, Microcytic anemia, Splenomegaly OMIM:257200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Anemia, Hemophagocytosis, Hypoproteinemia, Leukopenia, Splenomegaly, Thrombocytopenia, Hypoalbumi... OMIM:267700
Mitochondrial Complex I Deficiency, Nuclear Type 29
Mitochondrial swelling, Decreased activity of mitochondrial complex I OMIM:618250
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Rectal abscess, Deficiency or absence of cytochrome b(-245), Splenomegaly, Impaire... OMIM:233690
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Leukopenia, Impaired neutrophil bactericidal activity, Splenomegaly, Th... OMIM:214500
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Fumarase Deficiency
Decreased fumarate hydratase activity, Mitochondrial swelling, Polycythemia OMIM:606812
Ch├ędiak-Higashi Syndrome
Anemia, Increased proportion of CD25+ mast cells, Hemophagocytosis, Pancytopenia, Abnormal natura... ORPHA:167
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Decreased activity of mitochondrial complex I, Decreased activity o... ORPHA:17
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Rectal abscess, Deficiency or absence of cytochrome b(-245), Granuloma, Splenomega... OMIM:306400
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Hemophagocytosis ORPHA:86884
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233710
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:257220
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Lysinuric Protein Intolerance
Anemia, Hemophagocytosis, Intraalveolar phospholipid accumulation, Leukopenia, Splenomegaly, Thro... OMIM:222700
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Splenomegaly OMIM:230600
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607625
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227982
H Syndrome
Histiocytosis, Microcytic anemia, Hepatosplenomegaly, Azoospermia ORPHA:168569
Graft Versus Host Disease
Hepatosplenomegaly, Hemophagocytosis ORPHA:39812
Lysinuric Protein Intolerance
Anemia, Increased circulating antibody level, Hemophagocytosis, Intraalveolar phospholipid accumu... ORPHA:470
Listeriosis
Liver abscess, Splenic abscess, Abnormal cellular immune system morphology, Hepatic granulomatosi... ORPHA:533
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Splenomegaly, Hepatosplenomegaly, Azoospermia OMIM:602782
Granulomatosis With Polyangiitis
Granulomatosis OMIM:608710
Granulomatosis With Polyangiitis
Granulomatosis, Elevated circulating C-reactive protein concentration ORPHA:900

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 Qprt

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 Qprt.

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

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
Qprttm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Qprttm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Qprttm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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