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Gene: Dpyd MGI:2139667

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Gene Summary

Name:
dihydropyrimidine dehydrogenase
Synonyms:
DPD,  E330028L06Rik

Order Alleles

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
hyperactivity Dpydtm1b(KOMP)Wtsi HOM   Early adult 4.36×10-06
abnormal stomach morphology Dpydtm1b(KOMP)Wtsi HOM Early adult 0.00
increased vertical activity Dpydtm1b(KOMP)Wtsi HOM   Early adult 8.18×10-06
abnormal epididymis morphology Dpydtm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

15 Images

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Eye Morphology

Images Slit Lamp

1 Images

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X-ray

XRay Images Hind Leg and Hip

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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Histopathology

Images

1 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Human diseases caused by Dpyd 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.

The table below shows human diseases associated to Dpyd by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity OMIM:274270
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Abnormal eating behavior, Self-mutilation, Aggressive behavior ORPHA:293948
Dihydropyrimidine Dehydrogenase Deficiency
High palate, Inability to walk ORPHA:1675

The table below shows human diseases predicted to be associated to Dpyd by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
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
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity, Gait ataxia OMIM:620448
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Morm Syndrome
Hyperactivity, Micropenis, Aggressive behavior ORPHA:75858
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Testicular seminoma, Hypogonadism, Attention deficit hyperactivity d... ORPHA:281090
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Glossitis, Episodic ataxia OMIM:234500
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
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Serrated Polyposis Syndrome
Ovarian neoplasm, Gastric diverticulum, Colorectal polyposis, Prostate cancer, Biliary tract neop... ORPHA:157798
Intellectual Developmental Disorder, Autosomal Dominant 67
Gastroesophageal reflux, Hyperactivity, Compulsive behaviors, Motor tics, Attention deficit hyper... OMIM:619927
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior OMIM:301107
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior OMIM:605899
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Gastroesophageal reflux OMIM:617182
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Motor stereotypy, Aggressive behavior OMIM:619470
Intellectual Developmental Disorder, Autosomal Recessive 38
Narrow palate, Hyperactivity, Recurrent hand flapping, Unsteady gait, Self-mutilation, Aggressive... OMIM:615516
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Gait disturbance, Gait ataxia, Dysmetria OMIM:618090
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Ataxia, Self-injurious behavior, Aggressive behavior ORPHA:382
Fg Syndrome 3
Hyperactivity, Cryptorchidism, Pyloric stenosis OMIM:300406
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, Narrow palate OMIM:617169
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shuffling gait, Macroo... ORPHA:3077
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal ... OMIM:618718
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophi... ORPHA:2494
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, High palate, Self-injurious behavior, Choreoathetosis, Aggressi... OMIM:620023
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Macroorchidism, Aggressive behavior ORPHA:85327
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:615541
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Macroorchidism, Impulsivity OMIM:300143
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior... ORPHA:228402
Fragile X Syndrome
Congenital macroorchidism, Hyperactivity, Macroorchidism, postpubertal, Recurrent hand flapping, ... OMIM:300624
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Dysphagia, Aggressive behavior ORPHA:500180
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Precocious puberty, Broad-based gait, Aggressive behavior ORPHA:457260
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Hyperactivity, High palate, Precocious puberty, Motor stereotypy, Hypogonadis... ORPHA:3306
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Polyphagia, Inappropriate laughter, Ataxia ORPHA:411515
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity, Precocious puberty, Bifid uvula, Cleft palate, Aggressive behavior OMIM:300958
Trisomy 18P
High, narrow palate, Polyphagia, Bilateral cryptorchidism, Pyloric stenosis, Attention deficit hy... ORPHA:1715
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... ORPHA:263665
47,Xyy Syndrome
Hypospadias, Azoospermia, Hyperactivity, Oligozoospermia, Impulsivity, Varicocele, Attention defi... ORPHA:8
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity OMIM:274270
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Hyperactivity, Athetosis, Ataxia, Ileus, Self-mutilation ORPHA:52503
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Bilateral cryptorchidism ORPHA:314575
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Metachromatic Leukodystrophy
Tip-toe gait, Neoplasm of the gallbladder, Addictive behavior, Gait disturbance, Ataxia, Abnormal... ORPHA:512
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Microphallus, Gait ataxia, Motor stereotypy, Small scrotum, Cryptorchidism, Microp... OMIM:300486
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive beh... OMIM:610042
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Hiatus hernia OMIM:609727
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Gastroesophageal reflux, Hyperactivity, Recurrent hand flapping, Motor ... ORPHA:449291
Histidinemia
Hyperactivity ORPHA:2157
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal telangiectas... ORPHA:90291
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Hypospadias, Hyperactivity, Bifid scrotum, High palate, Anal atresia, ... OMIM:619148
Microgastria-Limb Reduction Defect Syndrome
Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Perineal fistula... ORPHA:2538
Reynolds Syndrome
Abnormal gastric mucosa morphology, Dysphagia, Xerostomia, Gastroesophageal reflux ORPHA:779
Hepatoportal Sclerosis
Gastric varix, Esophageal varix, Gastrointestinal hemorrhage, Hepatocellular carcinoma ORPHA:64743
Esophageal Atresia
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Abnormal ... ORPHA:1199
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix OMIM:620367
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Floating-Harbor Syndrome
Abnormal temper tantrums, Hypospadias, Gastroesophageal reflux, Broad-based gait, Compulsive beha... ORPHA:2044
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... ORPHA:141127
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Absent vas deferens, Hypospadias, Bicornuate uterus, Pyloric stenosis, Papillary cyst... ORPHA:93111
Von Hippel-Lindau Syndrome
Epididymal cyst, Hepatic hemangioma, Papillary cystadenoma of the epididymis OMIM:193300
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Celiac disease, Varicocele, Epididymal cyst, Cryptorchidism, ... OMIM:136140
Renal Cysts And Diabetes Syndrome
Hypospadias, Bicornuate uterus, Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus OMIM:137920
Hardikar Syndrome
Hematemesis, Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilater... OMIM:301068
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia ORPHA:79403
Williams Syndrome
Peptic ulcer, Rectal prolapse, Gait imbalance, Gastroesophageal reflux, Hypoplasia of penis, Comp... ORPHA:904
Viss Syndrome
High, narrow palate, Cleft soft palate, Gastroesophageal reflux, Chronic gastritis, High palate, ... OMIM:619472
Von Hippel-Lindau Disease
Epididymal cyst, Papillary cystadenoma of the epididymis ORPHA:892
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Abnormal eating behavior, Self-mutilation, Aggressive behavior ORPHA:293948
Dihydropyrimidine Dehydrogenase Deficiency
High palate, Inability to walk ORPHA:1675

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 Dpyd

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 Dpyd.

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

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MGI Allele Allele Type Produced
Dpydtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dpydtm44438(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dpydtm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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