Gene Summary

Name:
PWWP domain containing 3A, DNA repair factor
Synonyms:
9430059D04Rik,  Mum1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Pwwp3aem1(IMPC)Tcp HOM Early adult 7.96×10-16
thrombocytosis Pwwp3aem1(IMPC)Tcp HOM Early adult 7.38×10-05
decreased circulating alkaline phosphatase level Pwwp3aem1(IMPC)Tcp HOM   Early adult 9.71×10-05
increased vertical activity Pwwp3aem1(IMPC)Tcp HOM Early adult 5.20×10-05
small thymus Pwwp3aem1(IMPC)Tcp HOM Early adult 0.00
increased blood urea nitrogen level Pwwp3aem1(IMPC)Tcp HOM Early adult 7.38×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Eye Morphology

Images Slit Lamp

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

6 Images

Histopathology

Images

4 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Human diseases caused by Pwwp3a 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 Pwwp3a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... OMIM:618963
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Polyphagia, Increased blood urea nitrogen, H... OMIM:620085
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Thrombocythemia 2
Thrombocytosis OMIM:601977
Immunodeficiency 27A
Anorexia, Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesen... OMIM:209950
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Thrombocythemia 3
Thrombocytosis OMIM:614521
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Pancytopenia, Hepatosplenomegaly, Thromboc... OMIM:604416
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypersegmentation of neutrophil nuclei, Meg... OMIM:617780
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity, Gait ataxia OMIM:620448
Primary Myelofibrosis
Anorexia, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Poikilocytosis, He... ORPHA:824
Heme Oxygenase 1 Deficiency
Thrombocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Asplenia,... OMIM:614034
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Hyperprolinemia, Aggressive behavior OMIM:239500
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Pancytopenia OMIM:617872
Essential Thrombocythemia
Acute leukemia, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Abnorma... ORPHA:3318
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612926
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpuscular volu... ORPHA:232
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina... ORPHA:231111
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612925
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior OMIM:605899
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Hyperuricemia, Leukocytosis, Hyperammonemia, Ataxia, Oral aversion, Thromboc... ORPHA:134
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia,... OMIM:613845
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi... OMIM:235400
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis OMIM:226300
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior OMIM:301107
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anem... OMIM:274150
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk... OMIM:615934
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concen... ORPHA:94093
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Hypertriglyceridemia OMIM:615924
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Anemia, Hyperuricemia, Leukocytosis, Hyperammonemia, Leukopenia, Ataxia, Thrombocytosis ORPHA:20
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Self-mutilation, Hyperuricemia OMIM:308950
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Autoerythrocyte Sensitization Syndrome
Obsessive-compulsive trait, Impaired platelet adhesion, Self-injurious behavior, Autoimmune throm... ORPHA:324636
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Phenylketonuria
Hyperactivity, Hyperphenylalaninemia, Compulsive behaviors, Attention deficit hyperactivity disor... OMIM:261600
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Agitation, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pancyt... OMIM:615688
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia, Polyphagia, Episodic hemolytic anemia ORPHA:251004
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Gait disturbance, Gait ataxia, Dysmetria OMIM:618090
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Elevated circulating gamma-aminobutyric acid concentration, Ataxia, Self-injurious... OMIM:271980
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Ataxia, Thrombocytosis OMIM:212750
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci... OMIM:620481
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Ataxia, Self-injurious behavior, Aggressive behavior ORPHA:382
Interstitial Lung And Liver Disease
Hyperammonemia, Intraalveolar phospholipid accumulation, Anemia, Thrombocytosis OMIM:615486
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Dysmetria OMIM:212065
Hyperlysinemia, Type I
Anemia, Hyperactivity, Dysdiadochokinesis, Hyperlysinemia, Hypoornithinemia OMIM:238700
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal ... OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Unsteady gait, Self-mutilation, Aggressive behavior OMIM:615516
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypergalactosemia, Increased mean platelet volume, Increased cir... OMIM:222470
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal T cell morphology, Hyperactivity, Decreased proportion of C... ORPHA:760
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid co... OMIM:223360
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Thrombocytosis, Elevated circulating C-reactive protein concentration, Iron deficiency anemia, Ly... OMIM:301074
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or act... ORPHA:447
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Poems Syndrome
Lymphadenopathy, Polycythemia, Splenomegaly, Increased circulating prolactin concentration, Throm... ORPHA:2905
Polycythemia Vera
Acute leukemia, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis ORPHA:729
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shuffling gait, Macroo... ORPHA:3077
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Cockayne Syndrome Type 1
Difficulty walking, Anemia, Gait disturbance, Increased blood urea nitrogen, Ataxia, Cryptorchidism ORPHA:90321
Idiopathic Hypereosinophilic Syndrome
Anemia, Generalized lymphadenopathy, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hep... ORPHA:3260
Myopathy With Extrapyramidal Signs
Hypervalinemia, Difficulty walking, Hyperactivity, Elevated circulating creatine kinase concentra... OMIM:615673
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Syndromic Diarrhea
Abnormality of iron homeostasis, Hypoplasia of the thymus, Increased mean platelet volume, Spleno... ORPHA:84064
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Normocytic anemia, Elevated circulating C-reactive protein concentration, Increased blo... ORPHA:49041
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Optic Atrophy 11
Hyperactivity, Athetosis, Mildly elevated creatine kinase, Gait apraxia, Stereotypical body rocki... OMIM:617302
Brucellosis
Anorexia, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocy... ORPHA:1304
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Anemia ORPHA:230
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Macroorchidism, Elevated circulating growth hormone concentration, Aggressive beha... ORPHA:85327
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Hypomagnesemia, Self-biting OMIM:618314
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hyperc... ORPHA:247585
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemia, Thrombocyto... ORPHA:2331
Argininemia
Anorexia, Spastic gait, Reduced erythrocyte arginase activity, Hyperactivity, Hyperargininemia, H... OMIM:207800
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Hyperactivity, Hyperphenylalaninemia, Abnormal circulating neopt... OMIM:612716
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Leukocytosis OMIM:618213
Hyperthyroidism, Nonautoimmune
Hyperactivity, Goiter, Increased circulating thyroglobulin concentration, Thyroid hyperplasia OMIM:609152
X-Linked Creatine Transporter Deficiency
Hyperactivity, Athetosis, Ataxia, Abnormal circulating creatine concentration, Self-mutilation ORPHA:52503
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive beh... OMIM:610042
Familial Gestational Hyperthyroidism
Hyperactivity, Goiter, Agitation, Thyroid hyperplasia ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Goiter, Agitation, Thyroid hyperplasia ORPHA:424
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormality of neutrophil ph... ORPHA:2968
Doors Syndrome
Adrenal hyperplasia, Thrombocytosis ORPHA:79500
Goodpasture Syndrome
Increased blood urea nitrogen, Anemia OMIM:233450

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 Pwwp3a

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 Pwwp3a.

No publications found that use IMPC mice or data for Pwwp3a.

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MGI Allele Allele Type Produced
Pwwp3aem1(IMPC)Tcp Exon Deletion Mice

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