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Gene: Parp1 MGI:1340806

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Gene Summary

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

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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
increased prepulse inhibition Parp1tm1b(EUCOMM)Hmgu HOM   Early adult 7.75×10-06
preweaning lethality, incomplete penetrance Parp1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
immune system phenotype Parp1tm1b(EUCOMM)Hmgu HOM   Early adult 3.45×10-05
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
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

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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.

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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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
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... OMIM:162000
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Defective DNA repair after ultraviolet radiation damage OMIM:278780
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Gout, Renal cyst, Focal se... OMIM:617056
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... ORPHA:79233
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury ORPHA:54057
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ... OMIM:617744
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Fragile X Syndrome
Sinusitis, Protruding ear, Folate-dependent fragile site at Xq28, Otitis media, Macroorchidism, C... ORPHA:908
Fanconi Anemia, Complementation Group D1
Failure to thrive, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:605724
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange, Malar rash, Decreased body weight OMIM:618097
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia OMIM:616050
Fragile X Syndrome
Macroorchidism, postpubertal, Periventricular heterotopia, Folate-dependent fragile site at Xq28,... OMIM:300624
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Failure to thrive, Chromosomal breakage induced by crosslinking agents, Decreased body weight OMIM:619060
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... ORPHA:275555
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Hearing impairment OMIM:616435
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Decreased body weight, Defective DNA r... OMIM:278760
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:609054
Immunodeficiency 54
Chromosome breakage, Failure to thrive OMIM:609981
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... OMIM:618061
N Syndrome
Cryptorchidism, Abnormality of chromosome stability, Hearing impairment OMIM:310465
Fanconi Anemia, Complementation Group O
Neonatal death, Chromosome breakage, Cryptorchidism OMIM:613390
Transcobalamin Deficiency
Abnormality of chromosome stability, Decreased circulating antibody level, Decreased circulating ... ORPHA:859
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Prol... OMIM:227650
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Decreased fe... OMIM:210900
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... ORPHA:276
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Prolonged G2 phase of ... OMIM:600901
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... OMIM:613388
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Prolonged G2 phase of ... OMIM:227645
Radial-Renal Syndrome
External ear malformation, Chromosome breakage OMIM:179280
Fanconi Anemia, Complementation Group S
Chromosome breakage, Failure to thrive OMIM:617883
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:620133
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Splenomegaly, Ocular albinism, Hepatosplenomegaly, Enlarged plate... OMIM:608233
Fanconi Anemia, Complementation Group F
Pneumonia, Cryptorchidism, Patent ductus arteriosus, Microtia, Bone marrow hypocellularity, Condu... OMIM:603467
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... OMIM:616733
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Patent ductus arterios... OMIM:227646
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... ORPHA:49041
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Bone marrow hypocellularity, Low-set ears OMIM:615272
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Ataxia-Telangiectasia
Failure to thrive, Abnormality of chromosome stability, Abnormal testis morphology, Decreased cir... ORPHA:100
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Bone marrow hypocellularity, Chromosomal breakage induced by cross... OMIM:609053
Bone Marrow Failure Syndrome 3
Chromosome breakage, Eczema, Cryptorchidism, Cupped ear, Bone marrow hypocellularity, Failure to ... OMIM:617052
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:617243
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... ORPHA:97362
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Juvenile Nephropathic Cystinosis
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... ORPHA:411634
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... ORPHA:439232
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Optic nerve hypoplasia, Abnormal T cell subset distribution, B lymphocytopenia, Decreased proport... ORPHA:221139
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Sinusitis, Recurrent urinary tract infections, Glomerulonephritis, Fasciitis... ORPHA:36234
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Weight loss, Decreased circulating total IgM, Arthritis, Chromoso... ORPHA:420741
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... OMIM:274150
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Skin rash, Elevated circulating creatinine concentration, Hyperb... ORPHA:542323
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:85327
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase concentration, Lo... OMIM:608836
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine concentration, Ab... ORPHA:29073
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Cachexia, Defective DNA repair after ultraviolet radiation damag... OMIM:610965
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Fanconi Anemia, Complementation Group P
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Hearing impairment OMIM:613951
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:617244
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Glycogen Storage Disease Ia
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Hyperuric... OMIM:232200
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... OMIM:301074
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ... ORPHA:91500
Xeroderma Pigmentosum, Complementation Group A
Keratitis, Sensorineural hearing impairment, Conjunctivitis, Defective DNA repair after ultraviol... OMIM:278700
Xeroderma Pigmentosum, Complementation Group D
Keratitis, Sensorineural hearing impairment, Defective DNA repair after ultraviolet radiation dam... OMIM:278730
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Xeroderma Pigmentosum, Complementation Group E
Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radiation damage OMIM:278740
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Glycogen Storage Disease Ib
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Inflammat... OMIM:232220
Fanconi Anemia, Complementation Group L
Chromosome breakage, Microtia, Anotia, Bone marrow hypocellularity, Low-set ears, Chromosomal bre... OMIM:614083
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Gout, Hematuria, Focal se... OMIM:232240
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... OMIM:154230
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary... OMIM:618885
Diffuse Alveolar Hemorrhage
Hematuria, Elevated circulating creatinine concentration, Proteinuria ORPHA:90060
Xeroderma Pigmentosum, Complementation Group C
Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radiation damage OMIM:278720
Trichothiodystrophy
Congenital exfoliative erythroderma, Eczema, Cryptorchidism, Defective DNA repair after ultraviol... ORPHA:33364
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... ORPHA:488627
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Pneumonia, Skin rash, Elevated circulating creatinine concentration, Glomerular scle... ORPHA:247691
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... ORPHA:90038
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Keratitis, Sensorineural hearing impairment, Defective DNA repair after... OMIM:278800
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Elevated circulating ... ORPHA:340
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Rhinitis, Increas... ORPHA:230
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Hypergonadotropic hypogonadism, Patent ductus arteriosus, Hy... OMIM:300514
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... OMIM:223900
Icf Syndrome
Abnormality of chromosome stability, Low-set ears, Decreased circulating antibody level ORPHA:2268
Sickle Cell Anemia
Osteomyelitis, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Reduce... OMIM:619381
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Meningioma
Hypogonadotropic hypogonadism, Obesity, Impotence, Chromosomal breakage induced by ionizing radia... ORPHA:2495
Alkaptonuria
Arthritis, Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate OMIM:203500
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Bronchiectasis, Elevated circulating C-reactive pr... ORPHA:79126
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst OMIM:617478
Lig4 Syndrome
Cryptorchidism, Abnormality of chromosome stability ORPHA:99812
Marburg Hemorrhagic Fever
Renal insufficiency, Pericarditis, Skin rash, Maculopapular exanthema, Elevated circulating creat... ORPHA:99826
Yellow Fever
Renal insufficiency, Anuria, Skin rash, Acute pancreatitis, Elevated circulating creatine kinase ... ORPHA:99829
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Cachexia, Recurrent pneumonia, Abnormality of neuronal migra... ORPHA:647
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, Abnormality of chromosome stability, Macrotia, Decreased circu... ORPHA:175
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... OMIM:614748
Fanconi Anemia
Abnormality of chromosome stability, External ear malformation, Cryptorchidism, Patent ductus art... ORPHA:84
Revesz Syndrome
Abnormality of chromosome stability, Bone marrow hypocellularity OMIM:268130
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating ferritin co... OMIM:619534

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 10 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
PARP12 is required to repress the replication of a Mac1 mutant coronavirus in a cell- and tissue-specific manner. Journal of virology (September 2023) Parp12tm1.1(KOMP)Vlcg PMC10537751
Poly(ADP-Ribose) Polymerase-1 Lacking Enzymatic Activity Is Not Compatible with Mouse Development. Cells (August 2023) Parp1tm1c(EUCOMM)Hmgu PMC10453916
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
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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