Gene Summary

Name:
poly (A) polymerase alpha
Synonyms:
PapIII,  Plap

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, complete penetrance Papolaem1(IMPC)J HOM   Early adult 0.00
decreased lean body mass Papolaem1(IMPC)J HET Early adult 1.02×10-05
increased circulating aspartate transaminase level Papolaem1(IMPC)J HET Early adult 1.87×10-08
abnormal embryo size Papolaem1(IMPC)J HOM E18.5 0.00
decreased circulating calcium level Papolaem1(IMPC)J HET   Early adult 1.92×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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 Skull Dorso Ventral Orientation

7 Images

Electrocardiogram (ECG)

Waveform Image

14 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

X-ray

XRay Images Forepaw

7 Images

Gross Morphology Embryo E18.5

Images

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Papola 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 Papola by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Obesity, Hypocalcemia OMIM:603233
Adamantinoma
Hypercalcemia ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia ORPHA:163693
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Obesity, Hypocalcemia ORPHA:79445
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Refractory Celiac Disease
Weight loss, Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Obesity, Hypocalcemia, Hyperphosphatemia OMIM:612462
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia OMIM:606407
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia OMIM:175500
Timothy Syndrome
Hypocalcemia OMIM:601005
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia, Increased body weight ORPHA:94086
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Hypophosphatemia, Hypocalcemia OMIM:600081
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Small for gestational age, Elevated circulating crea... ORPHA:26793
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Primary Intestinal Lymphangiectasia
Weight loss, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:264700
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
X-Linked Agammaglobulinemia
Failure to thrive, Hypocalcemia, Weight loss ORPHA:47
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... ORPHA:31824
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia ORPHA:53
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Failure to thrive, Hypocalcemia OMIM:607143
Oculoskeletodental Syndrome
Small for gestational age, Hypocalcemia, Hypercalcemia OMIM:618440
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia OMIM:602361
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
Hypocalcemic Vitamin D-Dependent Rickets
Failure to thrive, Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia OMIM:259700
Kenny-Caffey Syndrome, Type 2
Small for gestational age, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Failure to thrive, Hyponatremia, Elevated cir... ORPHA:411634
Cholera
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia ORPHA:173
Rhabdoid Tumor
Hypercalcemia, Weight loss ORPHA:69077
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... ORPHA:94093
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia, Obesity ORPHA:79444
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Cachexia, Abnormal blood ion concentration, Hypomagnesemia, Hypocalce... ORPHA:37042
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Failure to thrive in infancy ORPHA:746
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypocalcemia, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Celiac Disease, Susceptibility To, 1
Failure to thrive, Hypocalcemia, Weight loss OMIM:212750
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Obesity, Hyperphosphatemia OMIM:103580
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia, Obesity ORPHA:79443
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypocalcemia, Hypokalemia, Hyponatremia OMIM:617913
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss ORPHA:94080
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Failure to thrive, Hypercalcemia OMIM:241500
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Cartilage-Hair Hypoplasia
Failure to thrive, Hypocalcemia ORPHA:175
Pearson Syndrome
Hyperalaninemia, Small for gestational age, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagn... ORPHA:699
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Unconjugated hyperbilirubinemia, Failure to thrive, Slender build, Hyp... OMIM:613658
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Thymic Neuroendocrine Tumor
Hypercalcemia, Weight loss ORPHA:97289
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration ORPHA:466650
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Obesity, Hypercalcemia ORPHA:251004
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Failure to thrive, Hypocalcemia, Hypomagnesemia ORPHA:358
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Weight loss, Hyperkalemia, Failure to thrive, Hypercalcemia, Hyponatremia ORPHA:199299
Acute Adrenal Insufficiency
Hyperuricemia, Weight loss, Hyperkalemia, Increased circulating renin level, Failure to thrive, H... ORPHA:95409
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyperkalemia, Hyponatremia ORPHA:544482
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Obesity, Hyperphosphatemia ORPHA:280651
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:405
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Increased circulating r... OMIM:601678
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Liver Disease, Severe Congenital
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al... OMIM:619991
Monosomy 13Q34
Obesity, Hypercalcemia ORPHA:96168
Hennekam Syndrome
Hypocalcemia ORPHA:2136
22Q11.2 Deletion Syndrome
Failure to thrive, Hypocalcemia, Obesity ORPHA:567
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Weight loss ORPHA:276621
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia, Weight loss ORPHA:29073
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia ORPHA:476126
Addison Disease
Hyperuricemia, Weight loss, Hyperkalemia, Increased circulating renin level, Failure to thrive, H... ORPHA:85138
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Hepatocellular Carcinoma
Weight loss, Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia ORPHA:88673
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Thymic Aplasia
Failure to thrive, Hypocalcemic tetany ORPHA:83471
Pheochromocytoma
Hypercalcemia OMIM:171300
Mastocytosis
Hypercalcemia ORPHA:98292
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Weight loss ORPHA:29072
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Failure to thrive, Hypocalcemia, Hypomagnesemia OMIM:619503
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Obesity, Hypercalcemia ORPHA:369837
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Digeorge Syndrome
Hypocalcemia, Obesity OMIM:188400
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia, Weight loss ORPHA:143
Vipoma
Hypokalemia, Hypercalcemia, Weight loss ORPHA:97282
Ppoma
Hypercalcemia, Weight loss ORPHA:97278
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Johanson-Blizzard Syndrome
Small for gestational age, Failure to thrive, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Hypophosphatemic Rickets
Failure to thrive, Hypophosphatemia, Hypercalcemia ORPHA:437
Somatostatinoma
Hypercalcemia, Weight loss ORPHA:97283
Zollinger-Ellison Syndrome
Hypercalcemia, Weight loss ORPHA:913
Charge Syndrome
Hypocalcemia OMIM:214800
Grfoma
Hypercalcemia, Weight loss ORPHA:97261
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Glucagonoma
Hypercalcemia, Weight loss ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Weight loss ORPHA:652
Williams Syndrome
Abnormal circulating lipid concentration, Elevated circulating creatine kinase concentration, Hyp... ORPHA:904
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Sarcoidosis
Hypercalcemia, Weight loss ORPHA:797
Williams-Beuren Syndrome
Obesity, Failure to thrive in infancy, Hypercalcemia OMIM:194050
Sotos Syndrome
Hypercalcemia ORPHA:821

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 Papola

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 Papola.

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

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MGI Allele Allele Type Produced
Papolatm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Papolaem1(IMPC)J Exon Deletion Mice

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