Gene Summary

Name:
dihydropyrimidine dehydrogenase
Synonyms:
DPD,  E330028L06Rik

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
abnormal epididymis morphology Dpydtm1b(KOMP)Wtsi HOM Early adult 0.00
hyperactivity Dpydtm1b(KOMP)Wtsi HOM   Early adult 7.71×10-06
abnormal stomach morphology Dpydtm1b(KOMP)Wtsi HOM Early adult 0.00
increased vertical activity Dpydtm1b(KOMP)Wtsi HOM   Early adult 2.28×10-06

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 Whole Body Dorso Ventral

15 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Hind Leg and Hip

12 Images

Eye Morphology

Images Slit Lamp

1 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Histopathology

Images

1 Images

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
Dihydropyrimidine Dehydrogenase Deficiency
High palate, Inability to walk ORPHA:1675
1P21.3 Microdeletion Syndrome
ORPHA:293948

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
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Dominant 52
Cryptorchidism, Hyperactivity OMIM:617796
Immunodeficiency 8
Hyperactivity OMIM:615401
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Testicular seminoma, Hypogonadism, Attention deficit... ORPHA:281090
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
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
Colorectal polyposis, Neoplasm of the large intestine, Biliary tract neoplasm, Prostate cancer, O... ORPHA:157798
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Dysmetria, Inability to walk, Gait disturbance OMIM:618090
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Morm Syndrome
Micropenis, Hyperactivity ORPHA:75858
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach OMIM:114500
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Hyperactivity, Micropenis, Attention deficit hyperactivity disorder OMIM:618504
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Alazami-Yuan Syndrome
Cryptorchidism, High palate, Hyperactivity OMIM:617126
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Diethylstilbestrol Syndrome
Epididymal cyst, Cryptorchidism, Micropenis, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, Narrow palate OMIM:617169
Intellectual Developmental Disorder, X-Linked 104
High palate, Hyperactivity, Ataxia OMIM:300983
Intellectual Developmental Disorder, Autosomal Dominant 43
Gastroesophageal reflux, Hyperactivity OMIM:616977
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Gastroesophageal reflux, Hyperactivity OMIM:300434
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Intrinsic Factor Deficiency
Absence of intrinsic factor, Malabsorption OMIM:261000
Rubinstein-Taybi Syndrome 2
High palate, Narrow palate, Intestinal malrotation, Hyperactivity OMIM:613684
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia OMIM:615924
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Hyperactivity, Cleft palate, Attention deficit hyperactivity disorder OMIM:614294
Juvenile Huntington Disease
Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Broad-based gait ORPHA:248111
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Glycine Encephalopathy
Hyperactivity OMIM:605899
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Hyperactivity OMIM:615824
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Hyperactivity OMIM:618342
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Gastroesophageal reflux, Colonic diverticula, Ster... ORPHA:263665
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Precocious puberty, Broad-based gait ORPHA:457260
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity OMIM:274270
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Macroorchidism ORPHA:85327
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Macroorchidism, Shuffling gait ORPHA:3077
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Gastroesophageal reflux, Hyperactivity, Broad-based gait, Unsteady gait OMIM:617865
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Macroorchidism OMIM:300143
Clark-Baraitser Syndrome
High palate, Hyperactivity OMIM:617752
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Narrow palate, Unsteady gait OMIM:615516
Optic Atrophy 11
Hyperactivity, Dysmetria, Ataxia OMIM:617302
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Abnormal gastric mucosa morphology, Malabsorption, Int... ORPHA:1876
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Hyperactivity, Precocious puberty, Cleft palate, Broad-based gait OMIM:300958
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Colon cancer, Neoplasm of the rectum, Juvenile gastrointestinal polyposis, ... ORPHA:480536
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Micropenis, Hyperactivity, Macroglossia, Gait ataxia, Hypospadias, Hypogonadism, ... OMIM:300354
Ménétrier Disease
Giant hypertrophic gastritis, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroe... ORPHA:2494
Trisomy 18P
Bilateral cryptorchidism, Pyloric stenosis, High, narrow palate, Attention deficit hyperactivity ... ORPHA:1715
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Hyperactivity, Oligospermia, Macroorchidism,... ORPHA:8
Fragile X Syndrome
Hyperactivity, Congenital macroorchidism, Macroorchidism, postpubertal OMIM:300624
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia OMIM:612716
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Mend Syndrome
Cryptorchidism, High palate, Hyperactivity OMIM:300960
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Gastroesophageal reflux, Hyperactivity, Unsteady gait, Progressive cerebellar ataxia ORPHA:485350
Harrod Syndrome
High palate, Malrotation of small bowel, Cryptorchidism, Aganglionic megacolon, High, narrow pala... OMIM:601095
Inverted Duplicated Chromosome 15 Syndrome
High palate, Cryptorchidism, Hyperactivity, Precocious puberty, Gonadal dysgenesis, Hypogonadism ORPHA:3306
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Pyloric stenosis, Bilateral cryptorchidism ORPHA:314575
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity OMIM:613192
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Ataxia, Unsteady gait, Dysdiadochokinesis, Truncal a... ORPHA:228360
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Hyperactivity, Inability to walk, Dysphagia ORPHA:500180
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Hyperactivity, Bifid uvula OMIM:619239
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Hyperactivity OMIM:609727
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Intestinal polyp, Cryptorchidism, Hyperactivity, Lactose intolerance, Gait disturbance, Hypospadias ORPHA:457485
2Q23.1 Microdeletion Syndrome
Cryptorchidism, Ataxia, Hyperactivity, Hypoplasia of penis ORPHA:228402
X-Linked Creatine Transporter Deficiency
Ileus, Hyperactivity, Aganglionic megacolon, Ataxia, Athetosis ORPHA:52503
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Hyperactivity, Hypospadias OMIM:614613
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Adenocarcinoma of the colon, Uterine leiomyoma, Adenomatous colonic polypos... ORPHA:220460
Histidinemia
Hyperactivity ORPHA:2157
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Ataxia ORPHA:382
X-Linked Non-Syndromic Intellectual Disability
Attention deficit hyperactivity disorder, Pyloric stenosis, Meckel diverticulum ORPHA:777
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Small scrotum, Cryptorchidism, Micropenis, Hyperactivity, Gait ataxia, Microphallus OMIM:300486
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Ataxia, Neoplasm of t... ORPHA:512
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Neoplasm of the gastrointestinal tract, Gastr... ORPHA:44890
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... OMIM:300048
Scleroderma
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, ... ORPHA:801
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Systemic Sclerosis
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, ... ORPHA:90291
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Bifid uvula, Cryptorchidism, Precocious puberty, Pyloric stenosis, Cleft palate ORPHA:96184
Stankiewicz-Isidor Syndrome
Cryptorchidism, Micropenis, Shawl scrotum, Hyperactivity, Hypospadias OMIM:617516
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hypospadias, Pyloric stenosis OMIM:218350
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Cryptorchidism, Hyperactivity, Anal atresia, Pyloric stenosis, Bifid scrotum, Anteri... OMIM:619148
Microgastria-Limb Reduction Defects Association
Splenogonadal fusion, Microgastria, Cryptorchidism, Intestinal malrotation, Gastroesophageal refl... OMIM:156810
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Juvenile Polyposis Syndrome
Hematochezia, Colon cancer, Intussusception, Rectal prolapse, Duodenal adenocarcinoma, Multiple g... OMIM:174900
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hyperactivity ORPHA:391307
13Q12.3 Microdeletion Syndrome
Cryptorchidism, Hyperactivity ORPHA:412035
X-Linked Cerebral Adrenoleukodystrophy
Dysmetria, Hyperactivity, Inability to walk, Ataxia, Male hypogonadism, Dysphagia, Gait disturban... ORPHA:139396
Fg Syndrome Type 1
High palate, Malrotation of colon, Cryptorchidism, Gastroesophageal reflux, Anal atresia, Pyloric... ORPHA:93932
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Gastrointestinal hemorrhage, Gastric varix ORPHA:64743
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Rectovaginal fistula, Microgastria, Intestinal malrotation, Gastroesophageal reflu... ORPHA:2538
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Protruding tongue, Hyperactivity, Ataxia, Dysphagia, Gait imbalance, Broad-based gait ORPHA:98794
X-Linked Intellectual Disability, Cabezas Type
High palate, Hyperactivity, Hypoplasia of penis, Broad-based gait, Hypogonadism, Decreased testic... ORPHA:85293
Congenital Tracheal Stenosis
Abnormal stomach morphology, Morphological abnormality of the gastrointestinal tract, Tracheoesop... ORPHA:141127
Purine Nucleoside Phosphorylase Deficiency
Unusual gastrointestinal infection, Hyperactivity, Ataxia ORPHA:760
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Opitz-Kaveggia Syndrome
Anal stenosis, Cryptorchidism, Intestinal malrotation, Hypospadias, Anal atresia, Pyloric stenosi... OMIM:305450
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Cryptorchidism, Hyperactivity OMIM:618505
X-Linked Adrenoleukodystrophy
Gait disturbance, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:43
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Dysphagia, Abnormal gastric mucosa morphology ORPHA:779
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Hyperactivity, Gait ataxia, Dysphagia, Dysdiadochokinesis OMIM:610217
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Difficulty walking, Pyloric stenosis ORPHA:169189
Floating-Harbor Syndrome
Epididymal cyst, Varicocele, Cryptorchidism, Celiac disease, Congenital posterior urethral valve,... OMIM:136140
Esophageal Atresia
Morphological abnormality of the gastrointestinal tract, Gastrointestinal carcinoma, Gastrointest... ORPHA:1199
Floating-Harbor Syndrome
Epididymal cyst, Varicocele, Cryptorchidism, Gastroesophageal reflux, Celiac disease, Precocious ... ORPHA:2044
Legius Syndrome
Hyperactivity, Male urethral meatus stenosis, Ovarian neoplasm, Desmoid tumors, Attention deficit... ORPHA:137605
Nijmegen Breakage Syndrome
Anal stenosis, Hyperactivity, Anal atresia, Recurrent infection of the gastrointestinal tract, Pr... OMIM:251260
Postaxial Acrofacial Dysostosis
Micropenis, Cryptorchidism, Midgut malrotation, Pyloric stenosis, Cleft palate OMIM:263750
Ulnar-Mammary Syndrome
Ectopic anus, Cryptorchidism, Hypoplasia of penis, Anal atresia, Abnormality of the uterus, Pylor... ORPHA:3138
Smith-Lemli-Opitz Syndrome
Small scrotum, Septate vagina, Gastrointestinal dysmotility, Intestinal malrotation, Gastroesopha... OMIM:270400
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia, Urethral stricture ORPHA:79403
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis OMIM:193300
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Atretic vas deferens, Bicornuate uterus, Hypoplasia of the uterus, Hypospadias OMIM:137920
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Maternal Phenylketonuria
High palate, Hyperactivity, Esophageal atresia ORPHA:2209
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hiatus hernia, High palate, Dysmetria, Gastroesophageal reflux, Hyperactivity, Ataxia, Unsteady g... OMIM:614756
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Papillary cystadenoma of the epididymis, Pyloric stenosis, Bicornuate uterus, Hypospadias, Absent... ORPHA:93111
Argininemia
Hyperactivity, Spastic gait OMIM:207800
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Unilateral cleft palate, Esophageal varix, Celiac dise... OMIM:301068
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia, Abnormality of the urethra ORPHA:158684
Von Hippel-Lindau Disease
Epididymal cyst, Papillary cystadenoma of the epididymis ORPHA:892
Williams Syndrome
Hypogonadotropic hypogonadism, Dysmetria, Polycystic ovaries, Cryptorchidism, Gastroesophageal re... ORPHA:904
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Akinesia, Ataxia, Dysphagia, Gait disturbance OMIM:234200
Ulnar-Mammary Syndrome
Small scrotum, Anal stenosis, Micropenis, Shawl scrotum, Anal atresia, Pyloric stenosis, Bicornua... OMIM:181450
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
High palate, Small scrotum, Cryptorchidism, Micropenis, Gastroesophageal reflux, Hyperactivity, M... OMIM:309580
Viss Syndrome
Submucous cleft soft palate, High palate, Bifid uvula, Broad uvula, Cleft soft palate, Intestinal... OMIM:619472
Dihydropyrimidine Dehydrogenase Deficiency
High palate, Inability to walk ORPHA:1675
1P21.3 Microdeletion Syndrome
ORPHA:293948

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.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The dihydropyrimidine dehydrogenase gene contributes to heritable differences in sleep in mice. Current biology : CB (October 2021) Dpydtm1b(KOMP)Wtsi 34653361

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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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