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
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Inappropriate behavior, Memory impairment, Falls, Abnormal neuron ... ORPHA:412066
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Impulsivity, Polymicrogyria, Lissencephaly, Aggressive behavior, Abnorma... OMIM:604317
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Ataxia, Cognitive impairment ORPHA:1314
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Chorea, Athetosis, Dementia OMIM:615483
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
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
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Depression, Anxiety, Inappropriate behavior, Memory impairment, Chorea ORPHA:401901
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Chorea, Aggressive behavior, Unsteady gait, Dementia OMIM:603218
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Huntington Disease-Like 2
Apathy, Bradykinesia, Depression, Anxiety, Chorea, Irritability, Dementia OMIM:606438
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Mental deterioration, Depression, Anxiety, Difficulty walking OMIM:619191
Immunodeficiency 8
Hyperactivity OMIM:615401
Lissencephaly, X-Linked, 1
Ataxia, Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:300067
Lissencephaly 3
Ataxia, Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria OMIM:611603
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Frontotemporal dementia OMIM:616208
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature OMIM:618160
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Cognitive impairment ORPHA:2216
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Microlissencephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... ORPHA:1083
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Inability to walk OMIM:618572
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ataxia OMIM:618709
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Dystonia 31
Difficulty walking, Abnormal posturing OMIM:619565
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Hyperactivity OMIM:608747
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Bradykinesia, Inappropriate behavior, Memory impairment, Self-biting, Na... OMIM:619827
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Progressive language deterioration, Self-mutilation, Mental deterioration, Abnormal neuro... ORPHA:163681
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity OMIM:619970
Band Heterotopia
Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia OMIM:600348
Optic Atrophy 8
Central scotoma, Visual impairment, Abnormality of pattern visual evoked potentials, Visual loss OMIM:616648
Intellectual Developmental Disorder And Retinitis Pigmentosa
Reduced visual acuity, Abnormal flash visual evoked potentials OMIM:618195
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Cognitive impairment, Polymicrogyria, Lissen... ORPHA:300573
Stargardt Disease
Nyctalopia, Color vision defect, Reduced visual acuity, Abnormality of visual evoked potentials, ... ORPHA:827
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Cognitive impairment OMIM:617008
Huntington Disease-Like 1
Bradykinesia, Dysmetria, Gait disturbance, Gait ataxia, Weight loss, Abnormal posturing ORPHA:157941
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity, Agenesis of corpus callosum OMIM:274270
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Difficulty walking, Tip-toe gait ORPHA:370980
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Gait disturbance, Weight loss, Abnormal posturing ORPHA:216866
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior ORPHA:100973
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior OMIM:239500
Phenylketonuria
Hyperactivity, Self-mutilation, Anxiety, Attention deficit hyperactivity disorder, Aggressive beh... OMIM:261600
Hemimegalencephaly
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Aggressive behavior ORPHA:2382
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity OMIM:615924
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Depression, Anxiety, Gait disturbance OMIM:300957
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Growth delay, Lethargy, Abnormal posturing OMIM:614857
Landau-Kleffner Syndrome
Social and occupational deterioration, Hyperactivity, Anxiety, Memory impairment, Attention defic... ORPHA:98818
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Dysgyria ORPHA:352682
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:1389
Canavan Disease
Visual impairment, Abnormality of visual evoked potentials, Blindness ORPHA:141
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Aggressive behavior ORPHA:382
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Periventricular heterotopia, Ataxia OMIM:618476
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Combined Oxidative Phosphorylation Deficiency 54
Periventricular nodular heterotopia, Hypoesthesia, Memory impairment, Impaired vibratory sensation OMIM:619737
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, Reduced visual acuity, Abnormality of visua... ORPHA:168491
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Cognitive impairment ORPHA:93274
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... ORPHA:3077
Tetrasomy 18P
Abnormality of neuronal migration, Gait disturbance ORPHA:3307
Mohr-Tranebjaerg Syndrome
Photophobia, Color vision defect, Abnormality of visual evoked potentials, Visual loss, Central s... ORPHA:52368
Lissencephaly 5
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia OMIM:615191
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Gait disturbance, Titubation, Gait ataxia, Abnormal posturing ORPHA:225147
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Oculocutaneous Albinism Type 1
Photophobia, Reduced visual acuity, Abnormality of visual evoked potentials, Amblyopia ORPHA:352731
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Acroparesthesia, Gray matter heterotopia, Polymicrogyria ORPHA:101030
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Polymicrogyria, Lissencephaly, Simplified gyral pattern,... OMIM:616212
Late-Infantile/Juvenile Krabbe Disease
Blindness, Abnormality of visual evoked potentials, Visual loss, Emotional lability, Visual impai... ORPHA:206443
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Autosomal Dominant Optic Atrophy Plus Syndrome
Progressive visual loss, Abnormality of visual evoked potentials, Constriction of peripheral visu... ORPHA:1215
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Color vision defect, Abnormality of visual evoked potentials, Slow decrease in visual acuity, Cen... OMIM:601152
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly ORPHA:89844
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Amblyopia OMIM:617523
Cln5 Disease
Abnormality of visual evoked potentials, Anxiety, Visual impairment, Aggressive behavior ORPHA:228360
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior OMIM:612716
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Visual impairment, Nyctalopia ORPHA:96
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria, Cognitive impairment ORPHA:2065
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Abulia, Visual loss OMIM:125310
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia ORPHA:2512
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Visual impairment ORPHA:1933
Acalvaria
Abnormality of neuronal migration ORPHA:945
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
High myopia, Abnormality of visual evoked potentials OMIM:614457
Fragile X Syndrome
Periventricular heterotopia, Self-biting OMIM:300624
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Ataxia, Self-injurious behavior, Aggressive behavior, Irritability OMIM:619833
Radio-Tartaglia Syndrome
Gait imbalance, Ataxia, Gray matter heterotopia, Impulsivity, Aggressive behavior OMIM:619312
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Dystonia 1, Torsion, Autosomal Dominant
Inability to walk, Abnormal posturing OMIM:128100
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Myopia ORPHA:2971
Joubert Syndrome
Abnormality of neuronal migration, Ataxia, Polymicrogyria, Gait disturbance ORPHA:475
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Hypermetropia, Abnormality of visual evoked potentials, Myopia, Cerebral visual impairment OMIM:616875
Vici Syndrome
Failure to thrive, Hypopigmentation of hair, Albinism, Growth delay, Abnormal posturing OMIM:242840
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Ataxia, Pachygyria ORPHA:255138
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Friedreich Ataxia
Visual field defect, Abnormality of visual evoked potentials, Visual impairment, Reduced visual a... OMIM:229300
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Orofaciodigital Syndrome Xvi
Ataxia, Gray matter heterotopia, Inability to walk OMIM:617563
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:899
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Chiari Malformation Type Ii
Ataxia, Gray matter heterotopia OMIM:207950
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
X-Linked Adrenoleukodystrophy
Hyperactivity, Cognitive impairment, Attention deficit hyperactivity disorder, Aggressive behavio... ORPHA:43
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Blindness, Emotional lability ORPHA:35069
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
White-Sutton Syndrome
Hypermetropia, Self-injurious behavior, Irritability, Abnormality of visual evoked potentials, An... OMIM:616364
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Pseudo-Torch Syndrome 2
Lethargy, Gray matter heterotopia, Polymicrogyria OMIM:617397
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Visual loss OMIM:256600
Oculocutaneous Albinism Type 1A
Photophobia, Abnormality of visual evoked potentials, Visual impairment ORPHA:79431
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:603671
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Ataxia ORPHA:2318
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:35107
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Progressive language deterioration OMIM:610042
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Impulsivity, Periventricular heterotopia, Anxiety, Self-injurious behavior OMIM:618929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Polymicrogyria, Type II lissencephaly, Agyria, Lissencephaly, Pachygyria... OMIM:614643
Coffin-Lowry Syndrome
Abnormality of neuronal migration, Self-injurious behavior, Gait disturbance ORPHA:192
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Man1B1-Cdg
Broad-based gait, Periventricular heterotopia ORPHA:397941
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Myopia, Cerebral visual impairment ORPHA:480898
Alg11-Cdg
Ataxia, Gray matter heterotopia ORPHA:280071
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Metachromatic Leukodystrophy, Late Infantile Form
Reduced visual acuity, Abnormality of visual evoked potentials, Emotional lability ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Reduced visual acuity, Abnormality of visual evoked potentials, Emotional lability ORPHA:309263
Familial Infantile Myoclonic Epilepsy
Gait disturbance, Periventricular nodular heterotopia, Ataxia ORPHA:352582
Infantile Krabbe Disease
Photophobia, Abnormality of visual evoked potentials, Visual loss, Blindness, Irritability ORPHA:206436
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggres... ORPHA:449291
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:2211
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia OMIM:615287
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Gray matter heterotopia, Polymicrogyria ORPHA:370959
9Q21.13 Microdeletion Syndrome
Difficulty walking, Gray matter heterotopia ORPHA:531151
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Lethargy, Polymicrogyria OMIM:608836
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Cerebrofacioarticular Syndrome
Ataxia, Gray matter heterotopia, Self-injurious behavior ORPHA:314679
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:2671
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Lissencephaly OMIM:615219
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Self-injurious behavior ORPHA:261236
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Ataxia, Gait disturbance ORPHA:1454
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Van Maldergem Syndrome 1
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Dysmetria, Polymicrogyria, Gait ataxia, Abn... ORPHA:75857
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Visual impairment ORPHA:485421
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Ataxia, Gait disturbance ORPHA:2754
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials, Visual loss, Cerebral visual impairment OMIM:203700
Metachromatic Leukodystrophy, Adult Form
Reduced visual acuity, Abnormality of visual evoked potentials, Emotional lability ORPHA:309271
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Small for gestational age ORPHA:424
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Inability to walk ORPHA:26791
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Anxiety, Gait disturbance ORPHA:464311
Koolen-De Vries Syndrome
Conspicuously happy disposition, Gray matter heterotopia, Impulsivity, Anxiety OMIM:610443
Holoprosencephaly
Abnormality of neuronal migration, Chorea, Cognitive impairment ORPHA:2162
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Micro Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:2510
Peroxisome Biogenesis Disorder 1A (Zellweger)
Unsteady gait, Loss of ambulation, Gray matter heterotopia, Polymicrogyria OMIM:214100
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:157
Hermansky-Pudlak Syndrome
Photophobia, Abnormality of visual evoked potentials, Amblyopia, Visual impairment, Myopia ORPHA:79430
Periventricular Nodular Heterotopia 9
Broad-based gait, Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria OMIM:618918
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... ORPHA:98889
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia OMIM:615546
Nijmegen Breakage Syndrome
Mental deterioration, Abnormality of neuronal migration ORPHA:647
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:228308
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Visual impairment, Emotional lability ORPHA:512
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Miller-Dieker Lissencephaly Syndrome
Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly OMIM:247200
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Self-injurious behavior, Polymicrogyria, Lissencephaly, Simplified g... ORPHA:468631
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria OMIM:619775
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity ORPHA:99819
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability OMIM:620047
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Unsteady gait OMIM:618733
Tay-Sachs Disease
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia ORPHA:845
Histidinemia
Hyperactivity ORPHA:2157
Arima Syndrome
Ataxia, Gray matter heterotopia OMIM:243910
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Pachygyria, Gray matter heterotopia OMIM:620024
Sandhoff Disease
Exaggerated startle response OMIM:268800
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Impaired pain sensation, Gray matter heterotopia ORPHA:453499
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Impaired pain sensation, Gray matter heterotopia, Inability to walk ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Impaired pain sensation, Gray matter heterotopia, Inability to walk ORPHA:352665
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Cerebrotendinous Xanthomatosis
Abnormality of visual evoked potentials, Visual impairment, Aggressive behavior, Suicidal ideation ORPHA:909
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials OMIM:231550
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Mogs-Cdg
Abnormality of visual evoked potentials ORPHA:79330
Opitz-Kaveggia Syndrome
Gray matter heterotopia OMIM:305450
Aicardi Syndrome
Pachygyria, Gray matter heterotopia, Polymicrogyria OMIM:304050
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cortical gyration OMIM:311200
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
Cockayne Syndrome B
Hypermetropia, Abnormality of visual evoked potentials OMIM:133540
Cockayne Syndrome A
Hypermetropia, Abnormality of visual evoked potentials OMIM:216400
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:667
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Holoprosencephaly 14
Periventricular heterotopia, Gray matter heterotopia OMIM:619895
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:618820
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Aggressive behavior, Self-mutilation OMIM:270400
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Gray matter heterotopia OMIM:210710
Fontaine Progeroid Syndrome
Periventricular heterotopia, Gray matter heterotopia OMIM:612289
Orofaciodigital Syndrome Xiv
Simplified gyral pattern, Periventricular heterotopia, Polymicrogyria OMIM:615948
Mowat-Wilson Syndrome
Broad-based gait, Happy demeanor, Periventricular heterotopia, Ataxia, Inability to walk, Anxiety... ORPHA:2152
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia ORPHA:438213
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration OMIM:236680
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Happy demeanor, Periventricular heterotopia, Inability to walk, Polymicrogyria,... ORPHA:261537
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Happy demeanor, Periventricular heterotopia, Inability to walk, Polymicrogyria,... ORPHA:261552
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Periventricular heterotopia OMIM:606170

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 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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-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

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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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