Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
dopamine receptor D1
Synonyms:
D1 receptor,  Drd-1,  Gpcr15,  C030036C15Rik,  Drd1a

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Drd1 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 Drd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Motor stereotypy, At... OMIM:618709
Schizophrenia 15
Hyperactivity OMIM:613950
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Cognitive impairment, Ataxia ORPHA:1314
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Lissencephaly, X-Linked, 1
Ataxia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Lissencephaly 3
Polymicrogyria, Periventricular laminar heterotopia, Ataxia, Pachygyria, Agyria, Gray matter hete... OMIM:611603
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Cognitive impairment ORPHA:2216
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... ORPHA:66624
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Lissencephaly 1
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:607432
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Lissencephaly, Polymicrogyria, Self-mutilation, Abnormality of neuronal migration, Aggressive beh... OMIM:604317
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... ORPHA:1083
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Dystonia 31
Difficulty walking, Abnormal posturing OMIM:619565
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Cntnap2-Related Developmental And Epileptic Encephalopathy
Mental deterioration, Abnormal temper tantrums, Low frustration tolerance, Self-mutilation, Stere... ORPHA:163681
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Polymicrogyria, Attention deficit hyperactivity disorder, Cognitive imp... ORPHA:300573
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Dysphagia, Cognitive impairment OMIM:617008
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Periventricular heterotopia, Truncal ataxia, Unsteady gait, Simplified gyral p... OMIM:618273
Huntington Disease-Like 1
Abnormal posturing, Gait ataxia, Dysmetria, Weight loss, Gait disturbance, Bradykinesia ORPHA:157941
Landau-Kleffner Syndrome
Depression, Memory impairment, Short attention span, Emotional lability, Aggressive behavior, Att... ORPHA:98818
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Tip-toe gait, Inability to walk, Gait disturbance, Weight loss ORPHA:216866
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... OMIM:615516
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Abnormal neuron morphology, Polymicrogyria ORPHA:99802
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing, Growth delay, Failure to thrive OMIM:614857
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Cognitive impairment ORPHA:309246
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Glutathionuria
Gray matter heterotopia, Dysdiadochokinesis OMIM:231950
Congenital Muscular Dystrophy Without Intellectual Disability
Difficulty walking, Gray matter heterotopia, Tip-toe gait, Pachygyria ORPHA:370980
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Dysgyria ORPHA:352682
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Depression, Gait disturbance OMIM:300957
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Gait ataxia, Gait disturbance, Bradykinesia, Titubation ORPHA:225147
Lissencephaly 6 With Microcephaly
Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Lissencephaly, Simpl... OMIM:616212
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Polymicrogyria, Gray matter heterotopia, Ataxia OMIM:617201
Tetrasomy 18P
Abnormality of neuronal migration, Gait disturbance ORPHA:3307
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Cognitive impairment ORPHA:93274
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, Dysphagia, 4-layered lissencephaly ORPHA:89844
Lissencephaly 5
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia OMIM:615191
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Simplified gyral pattern OMIM:616171
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Gray matter heterotopia, Acroparesthesia, Polymicrogyria ORPHA:101030
Radio-Tartaglia Syndrome
Gait imbalance, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Ataxia,... OMIM:619312
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Difficulty walking, Inappropriate laughter, Periventricular heterotopia, Co... OMIM:618476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... ORPHA:449291
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Cognitive impairment, Pachygyria ORPHA:2065
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Fragile X Syndrome
Periventricular heterotopia, Recurrent hand flapping, Hyperactivity, Self-biting OMIM:300624
Chiari Malformation Type Ii
Gray matter heterotopia, Dysphagia, Ataxia OMIM:207950
Acalvaria
Abnormality of neuronal migration ORPHA:945
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Dystonia 1, Torsion, Autosomal Dominant
Inability to walk, Abnormal posturing OMIM:128100
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Periventricular Nodular Heterotopia 9
Broad-based gait, Polymicrogyria, Periventricular nodular heterotopia, Attention deficit hyperact... OMIM:618918
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Periventricular heterotopia, Irritability, Aggressive behavior, Ataxia OMIM:619833
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Progressive languag... OMIM:610042
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Joubert Syndrome
Abnormality of neuronal migration, Polymicrogyria, Gait disturbance, Ataxia ORPHA:475
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Ataxia ORPHA:255138
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Orofaciodigital Syndrome Xvi
Inability to walk, Gray matter heterotopia, Ataxia OMIM:617563
Joubert Syndrome 30
Gray matter heterotopia, Polymicrogyria OMIM:617622
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Periventricular heterotopia, I... OMIM:618929
Man1B1-Cdg
Polyphagia, Broad-based gait, Periventricular heterotopia ORPHA:397941
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lethargy, Polymicrogyria OMIM:617397
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:899
Vici Syndrome
Abnormal posturing, Failure to thrive, Postnatal growth retardation, Albinism, Hypopigmentation o... OMIM:242840
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618870
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Ataxia ORPHA:2318
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Alg11-Cdg
Gray matter heterotopia, Ataxia ORPHA:280071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Pachygyria, Subcortical heterotopia, Agyria, Gray matter h... OMIM:614643
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Gray matter heterotopia, Polymicrogyria ORPHA:370959
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
9Q21.13 Microdeletion Syndrome
Difficulty walking, Gray matter heterotopia ORPHA:531151
Coffin-Lowry Syndrome
Self-injurious behavior, Abnormality of neuronal migration, Gait disturbance ORPHA:192
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:35107
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Lethargy, Polymicrogyria OMIM:608836
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Agitation, Small for gestational age ORPHA:424
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Gait disturbance, Mo... ORPHA:464311
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Gait disturbance, Ataxia ORPHA:1454
Bilateral Perisylvian Polymicrogyria
Bilateral perisylvian polymicrogyria, Perisylvian predominant thick cortex pachygyria, Pseudobulb... ORPHA:98889
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gray matter heterotopia, Dysphagia ORPHA:26791
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2211
6Q Terminal Deletion Syndrome
Polymicrogyria, Periventricular heterotopia, Gait ataxia, Dysmetria, Abnormality of neuronal migr... ORPHA:75857
Cerebrofacioarticular Syndrome
Self-injurious behavior, Gray matter heterotopia, Ataxia ORPHA:314679
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2671
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero... OMIM:601390
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Gait disturbance, Ataxia ORPHA:2754
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Galloway-Mowat Syndrome 1
Abnormality of neuronal migration, Pachygyria, Ataxia OMIM:251300
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Loss of ambulation, Gray matter heterotopia, Unsteady gait, Dysphagia OMIM:214100
16P13.11 Microdeletion Syndrome
Self-injurious behavior, Abnormality of neuronal migration, Compulsive behaviors ORPHA:261236
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity, Agitation ORPHA:99819
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Dysphagia, Polymicrogyria OMIM:619775
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Mental deterioration, Attention deficit hyperactivity disorder ORPHA:647
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia OMIM:614105
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Lissencephaly, Simplified gyral pattern OMIM:615219
Holoprosencephaly
Abnormality of neuronal migration, Chorea, Cognitive impairment ORPHA:2162
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:157
Tay-Sachs Disease
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia ORPHA:845
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Attention deficit hyperactivity disorder OMIM:305450
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:228308
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Koolen-De Vries Syndrome
Gray matter heterotopia, Hyperactivity, Impulsivity OMIM:610443
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia OMIM:620475
Sandhoff Disease
Exaggerated startle response OMIM:268800
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:247200
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Polymicrogyria, Periventricular heterotopia, Pachygyria, Motor stereotyp... ORPHA:468631
Neuromuscular Oculoauditory Syndrome
Unsteady gait, Periventricular heterotopia OMIM:618733
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Bruxism, Impaired pain sensation ORPHA:453499
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Histidinemia
Hyperactivity ORPHA:2157
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Attention deficit hyperactivity disorder, Polymicrogyria OMIM:618820
Arima Syndrome
Gray matter heterotopia, Polydipsia, Ataxia OMIM:243910
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Dysphagia ORPHA:261250
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Pachygyria, Gray matter heterotopia, Frontal polymicrogyria OMIM:620024
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response OMIM:620423
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Bruxism, Gray matter heterotopia, Impaired pain sensation ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Bruxism, Gray matter heterotopia, Impaired pain sensation ORPHA:352665
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia OMIM:620654
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Pachygyria, Polymicrogyria, Microlissencephaly, Progressive neurologi... OMIM:210710
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Aicardi Syndrome
Pachygyria, Gray matter heterotopia, Polymicrogyria OMIM:304050
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cortical gyration OMIM:311200
Holoprosencephaly 14
Gray matter heterotopia, Periventricular heterotopia OMIM:619895
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:603671
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia OMIM:612289
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Smith-Lemli-Opitz Syndrome
Aggressive behavior, Periventricular heterotopia, Hyperactivity, Self-mutilation OMIM:270400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Exaggerated startle response ORPHA:438213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia OMIM:615287
Orofaciodigital Syndrome Xiv
Simplified gyral pattern, Periventricular heterotopia, Polymicrogyria OMIM:615948
Mowat-Wilson Syndrome
Broad-based gait, Impaired pain sensation, Polymicrogyria, Inability to walk, Bruxism, Periventri... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Impaired pain sensation, Polymicrogyria, Inability to walk, Bruxism, Periventri... ORPHA:261537
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration OMIM:236680
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Impaired pain sensation, Polymicrogyria, Inability to walk, Bruxism, Periventri... ORPHA:261552
Genitopatellar Syndrome
Pachygyria, Periventricular heterotopia, Dysphagia OMIM:606170
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179

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 Drd1

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 Drd1.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The Role of Retinal Dopamine D1 Receptors in Ocular Growth and Myopia Development in Mice. The Journal of neuroscience : the official journal of the Society for Neuroscience (November 2023) Drd1tm1a(KOMP)Wtsi 37751999
Type 1 dopamine receptor (D1R)-independent circadian food anticipatory activity in mice. PloS one (February 2021) Drd1tm1e(KOMP)Wtsi PMC7869994
Cardiac dopamine D1 receptor triggers ventricular arrhythmia in chronic heart failure. Nature communications (August 2020) Drd1atm1a(KOMP)Wtsi PMC7459304
Dopamine D1 Receptors Contribute Critically to the Apomorphine-Induced Inhibition of Form-Deprivation Myopia in Mice. Investigative ophthalmology & visual science (May 2018) Drd1tm1a(KOMP)Wtsi 29847669
Dopamine-Dependent Sensitization of Rod Bipolar Cells by GABA Is Conveyed through Wide-Field Amacrine Cells. The Journal of neuroscience : the official journal of the Society for Neuroscience (December 2017) Drd1tm1c(KOMP)Wtsi Drd1tm1a(KOMP)Wtsi PMC5777116

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Drd1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Drd1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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