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Gene: Hpf1 MGI:1919862

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Gene Summary

Name:
histone PARylation factor 1
Synonyms:
2700029M09Rik

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal autopod morphology Hpf1em1(IMPC)Wtsi HOM Early adult 4.08×10-05
increased red blood cell distribution width Hpf1em1(IMPC)Wtsi HOM Early adult 4.43×10-07

Download data as:  TSV  XLS

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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.

DSS Histology

Images

8 Images

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X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Anti-nuclear antibody assay

Images

5 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Hpf1em1(IMPC)Wtsi
HOM, Male, WTSI
Hpf1em1(IMPC)Wtsi
HOM, Male, WTSI
Hpf1em1(IMPC)Wtsi
HOM, Male, WTSI
Hpf1em1(IMPC)Wtsi
HOM, Male, WTSI
Hpf1em1(IMPC)Wtsi
HOM, Male, WTSI

View all 89 images

Hpf1em1(IMPC)Wtsi
HOM, Male, WTSI
Hpf1em1(IMPC)Wtsi
decreased anterior commissure size, anterior commissure, HOM, Male, WTSI
Hpf1em1(IMPC)Wtsi
anterior commissure, decreased anterior commissure size, HOM, Male, WTSI
Hpf1em1(IMPC)Wtsi
HOM, Male, WTSI
Hpf1em1(IMPC)Wtsi
HOM, Male, WTSI

View all 6 images

Hpf1em1(IMPC)Wtsi
abnormal tail tip morphology, abnormal tail morphology, HOM, Male, WTSI
Hpf1em1(IMPC)Wtsi
abnormal tail morphology, short tail, HOM, Male, WTSI
Hpf1em1(IMPC)Wtsi
abnormal digit morphology, HOM, Male, WTSI
Hpf1em1(IMPC)Wtsi
abnormal digit morphology, HOM, Male, WTSI
Hpf1em1(IMPC)Wtsi
abnormal digit morphology, HOM, Male, WTSI

View all 6 images

Human diseases caused by Hpf1 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 Hpf1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo... OMIM:615631
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Syndactyly, Anemia of inadequate production, Anisocytosis, Spl... OMIM:224120
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Rocker bottom foot, Anisocytosis, Camptodactyly OMIM:604273
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231226
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... ORPHA:79277

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 Hpf1

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 Hpf1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Hpf1em1(IMPC)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Hpf1em1(IMPC)Wtsi PMC7338221
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Hpf1em2Wtsi PMC5827107

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MGI Allele Allele Type Produced
Hpf1tm51909(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hpf1em1(IMPC)Wtsi Deletion Mice

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