Gene Summary

Name:
poly (ADP-ribose) polymerase family, member 1
Synonyms:
PARP,  Adprp,  5830444G22Rik,  parp-1,  sPARP-1,  Adprt1

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
preweaning lethality, incomplete penetrance Parp1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased prepulse inhibition Parp1tm1b(EUCOMM)Hmgu HOM   Early adult 7.75×10-06
abnormal retina inner nuclear layer morphology Parp1tm1b(EUCOMM)Hmgu HOM Early adult 1.16×10-05
decreased grip strength Parp1tm1b(EUCOMM)Hmgu HOM   Early adult 2.30×10-05
increased effector memory CD8-positive, alpha-beta T cell number Parp1tm1b(EUCOMM)Hmgu HOM   Early adult 2.08×10-06
immune system phenotype Parp1tm1b(EUCOMM)Hmgu HOM   Early adult 3.45×10-05
decreased total retina thickness Parp1tm1b(EUCOMM)Hmgu HOM Early adult 1.39×10-07
decreased NK cell number Parp1tm1b(EUCOMM)Hmgu HOM   Early adult 1.63×10-07

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.

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Parp1 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 Parp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... ORPHA:567544
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ... OMIM:162000
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... OMIM:619468
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Anterior uveitis, Reversible renal failure, Uveitis, Elevated circulating creatinine ... OMIM:607665
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count OMIM:618261
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Gout, Elevated circulating creatini... ORPHA:79233
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage, Small for gestational age OMIM:278780
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia OMIM:618108
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria ORPHA:54057
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... ORPHA:158057
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... OMIM:619510
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... OMIM:179800
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Recurrent skin infections, Decreased serum creatinine, Decreased... OMIM:617744
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Lcat Deficiency
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... ORPHA:650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... OMIM:123550
Preeclampsia
Chronic kidney disease, Abnormality of the kidney, Elevated circulating creatinine concentration,... ORPHA:275555
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney disease OMIM:618061
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents, Failure to thrive, Decreased body weight OMIM:619060
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Failure to thrive OMIM:605724
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... ORPHA:276
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased serum creatinine, Hyponatremia, Decreased circulating renin level OMIM:300539
Fanconi Anemia, Complementation Group A
Small for gestational age, Hypergonadotropic hypogonadism, Deficient excision of UV-induced pyrim... OMIM:227650
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Fragile X Syndrome
Protruding ear, Sinusitis, Otitis media, Folate-dependent fragile site at Xq28, Chronic otitis media ORPHA:908
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Hearing impairment, Deficient excision o... OMIM:278760
Fanconi Anemia, Complementation Group E
Small for gestational age, Hypergonadotropic hypogonadism, Deficient excision of UV-induced pyrim... OMIM:600901
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... OMIM:601198
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Fragile X Syndrome
Periventricular heterotopia, Macrotia, Folate-dependent fragile site at Xq28 OMIM:300624
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Fanconi Anemia, Complementation Group C
Small for gestational age, Hypergonadotropic hypogonadism, Bone marrow hypocellularity, Deficient... OMIM:227645
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity OMIM:609054
Fanconi Anemia, Complementation Group O
Neonatal death, Chromosome breakage OMIM:613390
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... ORPHA:859
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... ORPHA:2260
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Ocular albinism, Splenomegaly, Hepatosplenomegaly, Thrombocytop... OMIM:608233
Pauci-Immune Glomerulonephritis
Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hema... ORPHA:93126
Bloom Syndrome
Protruding ear, Decreased circulating IgA level, Decreased circulating IgG level, Chromosome brea... OMIM:210900
Fanconi Anemia, Complementation Group S
Failure to thrive, Chromosome breakage OMIM:617883
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... ORPHA:449395
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, R... OMIM:616733
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multiple renal cysts... OMIM:613095
Primary Hyperoxaluria Type 1
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... ORPHA:93598
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Elevated circulating creatinine concentra... OMIM:614376
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... ORPHA:85450
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Nephrotic syndrome, Deep dermal perivascular inflammatory infiltrate, Elevated circulati... ORPHA:49041
Fanconi Anemia, Complementation Group D2
Small for gestational age, Hypergonadotropic hypogonadism, Hearing impairment, Deficient excision... OMIM:227646
Radial-Renal Syndrome
External ear malformation, Chromosome breakage OMIM:179280
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
X-Linked Lymphoproliferative Disease
Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... ORPHA:2442
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Optic nerve hypoplasia, B lymphocytopenia, Decreased proport... ORPHA:221139
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Hypokalemia, Aminoaciduria, Hy... ORPHA:411634
Bacterial Toxic-Shock Syndrome
Sinusitis, Osteomyelitis, Hypocalcemia, Skin rash, Recurrent skin infections, Peritonitis, Recurr... ORPHA:36234
Aapoaiv Amyloidosis
Chronic kidney disease, Hyperlipidemia, Abnormal renal medulla morphology, Renal interstitial amy... ORPHA:439232
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Conductive hearing impairment, Bone marrow h... OMIM:609053
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
N Syndrome
Hearing impairment, Abnormality of chromosome stability OMIM:310465
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... OMIM:274150
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Failure to thrive, Microtia, Bone marrow hypocellularity, Patent d... OMIM:603467
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... OMIM:120330
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Skin rash, Elevated circulating creatinine concentration, Increased inflammat... ORPHA:542323
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... OMIM:613090
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... OMIM:602522
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Low-set ears, Chromosome breakage OMIM:615272
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Elevated circulating long chain fatty acid concentration, Hyper... OMIM:608836
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... OMIM:600802
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Decreased circula... ORPHA:420741
Relapsing Fever
Elevated circulating C-reactive protein concentration, Abnormality of the urinary system, Hematur... ORPHA:91547
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgA level, Hyperproteinemia, Nephropathy, Increased cir... ORPHA:29073
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... OMIM:235400
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Unilateral renal agenesis, Abnormality of the kidney, Hypospadias, Glycosuria, G... OMIM:137920
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Chromosome breakage, Abnormality of chromosome stability OMIM:208910
Ataxia-Telangiectasia
Failure to thrive, Decreased circulating antibody level, Abnormality of chromosome stability ORPHA:100
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity OMIM:617243
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... ORPHA:35078
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Decreased glomerular filtration rate, Gout, Enlarg... OMIM:232200
Xfe Progeroid Syndrome
Failure to thrive, Cachexia, Defective DNA repair after ultraviolet radiation damage, Hearing imp... OMIM:610965
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Decreased glomerular filtration rate,... ORPHA:470
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Perianal abscess, Reduced natural killer c... OMIM:301074
Immunodeficiency 55
Neutropenia, Lymphopenia, Absent natural killer cells OMIM:617827
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Panuveitis, Elevated circulating C-reactive protein concentration, D... ORPHA:91500
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Decreased glomerular filtration rate, Gout, Inflam... OMIM:232220
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Renal dysplasia, Ureteropelvic junction obstruction, Elevated circ... OMIM:154230
Fanconi Anemia, Complementation Group U
Patent ductus arteriosus, Chromosome breakage OMIM:617247
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Decreased glomerular filtration rate, Hematuria, Gout, Foca... OMIM:232240
Xeroderma Pigmentosum, Complementation Group A
Sensorineural hearing impairment, Keratitis, Defective DNA repair after ultraviolet radiation dam... OMIM:278700
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine, Urinary... OMIM:618885
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Xeroderma Pigmentosum, Complementation Group D
Sensorineural hearing impairment, Keratitis, Keratoconjunctivitis sicca, Defective DNA repair aft... OMIM:278730
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Hypokalemia, Pancreatitis, Hemoglobinuria, Peritonitis, Elevated circulating creat... ORPHA:90038
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... ORPHA:488627
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Nephropathy, Elevated circulating creatinine concentration, Proteinuria, Pneumonia, Gl... ORPHA:247691
Fanconi Anemia, Complementation Group L
Chromosome breakage, Microtia, Anotia, Bone marrow hypocellularity, Chromosomal breakage induced ... OMIM:614083
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Patent ductus arteriosus, Hypoalbuminemia OMIM:608104
Xeroderma Pigmentosum, Complementation Group E
Keratitis, Defective DNA repair after ultraviolet radiation damage, Conjunctivitis OMIM:278740
Distal Renal Tubular Acidosis
Nephrolithiasis, Hypokalemia, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-... ORPHA:18
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Glomerulonephritis, Hematuria, Hype... ORPHA:340
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Trichothiodystrophy
Protruding ear, Eczema, Congenital exfoliative erythroderma, Keratoconjunctivitis sicca, Panhypog... ORPHA:33364
Xeroderma Pigmentosum, Complementation Group C
Keratitis, Defective DNA repair after ultraviolet radiation damage, Conjunctivitis OMIM:278720
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... ORPHA:79124
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Elevated circulating creatini... ORPHA:230
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glomerular sclerosi... OMIM:223900
Sickle Cell Anemia
Elevated circulating creatinine concentration, Osteomyelitis, Unconjugated hyperbilirubinemia ORPHA:232
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
De Sanctis-Cacchione Syndrome
Sensorineural hearing impairment, Keratitis, Defective DNA repair after ultraviolet radiation dam... OMIM:278800
Alkaptonuria
Nephrolithiasis, Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Arthritis OMIM:203500
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A... ORPHA:158048
Fanconi Anemia, Complementation Group B
Overfolded helix, Hypergonadotropic hypogonadism, Patent ductus arteriosus, Hypogonadism, Low-set... OMIM:300514
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Anemia... OMIM:619381
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency OMIM:617478
Meningioma
Amenorrhea, Impotence, Hypogonadotropic hypogonadism, Chromosomal breakage induced by ionizing ra... ORPHA:2495
Acute Interstitial Pneumonia
Bronchiectasis, Elevated circulating creatinine concentration, Elevated circulating C-reactive pr... ORPHA:79126
Marburg Hemorrhagic Fever
Increased circulating antibody level, Hypokalemia, Pancreatitis, Orchitis, Skin rash, Hyperammone... ORPHA:99826
Icf Syndrome
Low-set ears, Decreased circulating antibody level, Abnormality of chromosome stability ORPHA:2268
Yellow Fever
Hyperbilirubinemia, Skin rash, Elevated circulating creatine kinase concentration, Acute pancreat... ORPHA:99829
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Focal segmental ... OMIM:614748
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Cartilage-Hair Hypoplasia
Failure to thrive, Low-set, posteriorly rotated ears, Decreased circulating antibody level, Macro... ORPHA:175
Nijmegen Breakage Syndrome
Cachexia, Recurrent pneumonia, Macrotia, Abnormality of neuronal migration, Abnormality of chromo... ORPHA:647
Fanconi Anemia
Decreased fertility in males, External ear malformation, Weight loss, Patent ductus arteriosus, H... ORPHA:84
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperechogenic kidn... OMIM:619534
Revesz Syndrome
Bone marrow hypocellularity, Abnormality of chromosome stability OMIM:268130

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 Parp1

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 Parp1.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Deficiency of PARP-1 and PARP-2 in the mouse uterus results in decidualization failure and pregnancy loss. Proceedings of the National Academy of Sciences of the United States of America (October 2021) Parp1tm1c(EUCOMM)Hmgu 34580230
PARP1-mediated PARylation activity is essential for oligodendroglial differentiation and CNS myelination. Cell reports (October 2021) Parp1tm1c(EUCOMM)Hmgu 34610310
Functional Interplay between Histone H2B ADP-Ribosylation and Phosphorylation Controls Adipogenesis. Molecular cell (August 2020) Parp1tm1c(EUCOMM)Hmgu PMC7502539
Differential regulation of breast cancer bone metastasis by PARP1 and PARP2. Nature communications (March 2020) Parp1tm1c(EUCOMM)Hmgu PMC7101362
ARTD1 in Myeloid Cells Controls the IL-12/18-IFN-γ Axis in a Model of Sterile Sepsis, Chronic Bacterial Infection, and Cancer. Journal of immunology (Baltimore, Md. : 1950) (January 2019) Parp1tm1c(EUCOMM)Hmgu 30674576
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Parp16tm1.1(KOMP)Mbp PMC5503261
PARP-1 Controls the Adipogenic Transcriptional Program by PARylating C/EBPβ and Modulating Its Transcriptional Activity. Molecular cell (January 2017) Parp1tm1c(EUCOMM)Hmgu Parp1tm1a(EUCOMM)Hmgu PMC5258183
Spermatid head elongation with normal nuclear shaping requires ADP-ribosyltransferase PARP11 (ARTD11) in mice. Biology of reproduction (February 2015) Parp11tm1(KOMP)Vlcg PMC4376083

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MGI Allele Allele Type Produced
Parp1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Parp1em1(IMPC)Ccpcz Exon Deletion Mice, Tissue
Parp1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Parp1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Parp1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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