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Gene: Drd1 MGI:99578

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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,  Drd1a,  C030036C15Rik

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IMPC Data Collections

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

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.

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
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
Cognitive impairment, Dementia OMIM:618564
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Chorea, Benign Hereditary
Chorea, Gait disturbance, Dementia, Anxiety OMIM:118700
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis OMIM:615483
Symmetrical Thalamic Calcifications
Cognitive impairment, Abnormality of neuronal migration, Ataxia ORPHA:1314
Schizophrenia 15
Hyperactivity OMIM:613950
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Frontotemporal dementia, Motor neuron atrophy, Inertia, Falls, Shuffling ... ORPHA:412066
Huntington Disease-Like 2
Chorea, Inertia, Anxiety, Apathy, Dementia, Depression, Subcortical dementia, Irritability, Memor... OMIM:606438
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Inappropriate behavior, Cognitive impairment, Ataxia, Depression, Anxiety, Memory impairment ORPHA:401901
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Difficulty walking, Depression, Anxiety, Mental deterioration OMIM:619191
Huntington Disease-Like 1
Chorea, Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Unsteady gait OMIM:603218
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Ataxia, Pachygyria OMIM:300067
Lissencephaly 3
Gray matter heterotopia, Agyria, Lissencephaly, Ataxia, Pachygyria, Periventricular laminar heter... OMIM:611603
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Amyotrophic lateral sclerosis OMIM:616208
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ataxia OMIM:618709
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Bradykinesia, Dementia, Anxiety OMIM:605909
Maternal Hyperthermia-Induced Birth Defects
Cognitive impairment, Abnormality of neuronal migration ORPHA:2216
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Aggressive behavior, Abnormality of neuronal migration, Simplified gyral... OMIM:604317
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:619031
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Dystonia 31
Abnormal posturing, Difficulty walking OMIM:619565
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Agyria, Pachygyria ORPHA:1084
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Aggressive behavior, Self-injurious behavior, Self-biting, Lissencephaly,... OMIM:619827
Early-Onset Schizophrenia
Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,... ORPHA:96369
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia OMIM:608097
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Polymicrogyria ORPHA:101029
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability OMIM:234500
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness OMIM:605899
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Aggressive behavior, Agitation OMIM:309548
Cntnap2-Related Developmental And Epileptic Encephalopathy
Aggressive behavior, Abnormality of neuronal migration, Ataxia, Skin-picking, Mental deterioratio... ORPHA:163681
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Cognitive impairment, Lissencephaly, Pachygy... ORPHA:300573
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Agitation ORPHA:100973
Optic Atrophy 8
Visual loss, Abnormality of pattern visual evoked potentials, Central scotoma, Visual impairment OMIM:616648
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Stargardt Disease
Central scotoma, Color vision defect, Reduced visual acuity, Abnormality of visual evoked potenti... ORPHA:827
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Inability to walk, Truncal ataxia, Simplified gyral pattern, Unstead... OMIM:618273
Huntington Disease-Like 1
Gait ataxia, Abnormal posturing, Weight loss, Gait disturbance, Dysmetria, Bradykinesia ORPHA:157941
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Cognitive impairment OMIM:617008
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Tip-toe gait, Inability to walk, Weight loss, Gait disturbance ORPHA:216866
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617113
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Tip-toe gait, Difficulty walking, Pachygyria ORPHA:370980
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Phenylketonuria
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety, Irritabili... OMIM:261600
Hemimegalencephaly
Abnormal neuron morphology, Gray matter heterotopia, Pachygyria, Polymicrogyria ORPHA:99802
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Mental deterioration ORPHA:2382
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Abnormal posturing, Lethargy, Growth delay OMIM:614857
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Abnormality of neuronal migration, Depression, Anxiety OMIM:300957
Glutathionuria
Gray matter heterotopia, Dysdiadochokinesis OMIM:231950
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:1389
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Dysgyria ORPHA:352682
Canavan Disease
Blindness, Abnormality of visual evoked potentials, Visual impairment ORPHA:141
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior ORPHA:101039
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior ORPHA:382
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... ORPHA:3077
Sporadic Infantile Bilateral Striatal Necrosis
Gait ataxia, Abnormal posturing, Titubation, Gait disturbance, Bradykinesia ORPHA:225147
Late Infantile Neuronal Ceroid Lipofuscinosis
Aggressive behavior, Blindness, Visual loss, Anxiety, Myopia, Low frustration tolerance, Reduced ... ORPHA:168491
Thanatophoric Dysplasia Type 2
Cognitive impairment, Abnormality of neuronal migration ORPHA:93274
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Pachygy... OMIM:616212
Tetrasomy 18P
Gait disturbance, Abnormality of neuronal migration ORPHA:3307
Mohr-Tranebjaerg Syndrome
Cerebral visual impairment, Central scotoma, Visual loss, Color vision defect, Visual impairment,... ORPHA:52368
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cognitive impairment, Periventricular heterotopia, Ataxia, Inappropriate laughter, Difficulty wal... OMIM:618476
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Ataxia, Polymicrogyria OMIM:617201
Lissencephaly 5
Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia OMIM:615191
Subependymal Nodular Heterotopia
Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration, Acroparesthesia ORPHA:101030
Oculocutaneous Albinism Type 1
Amblyopia, Abnormality of visual evoked potentials, Photophobia, Reduced visual acuity ORPHA:352731
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Periventricular heterotopia OMIM:616171
Late-Infantile/Juvenile Krabbe Disease
Blindness, Emotional lability, Visual loss, Visual impairment, Irritability, Abnormality of visua... ORPHA:206443
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cognitive impairment, Abnormality of neuronal migration ORPHA:2063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Autosomal Dominant Optic Atrophy Plus Syndrome
Progressive visual loss, Constriction of peripheral visual field, Abnormality of visual evoked po... ORPHA:1215
Intellectual Developmental Disorder And Retinitis Pigmentosa
Reduced visual acuity, Nyctalopia, Abnormal flash visual evoked potentials OMIM:618195
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Color vision defect, Slow decrease in visual acuity, Abnormality of visual evoked potentials, Cen... OMIM:601152
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly ORPHA:89844
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Nyctalopia, Visual impairment ORPHA:96
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Visual loss, Abnormality of visual evoked potentials, Abulia OMIM:125310
Galloway-Mowat Syndrome
Cognitive impairment, Abnormality of neuronal migration, Pachygyria ORPHA:2065
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability, Polyphagia OMIM:275000
Cln5 Disease
Aggressive behavior, Abnormality of visual evoked potentials, Anxiety, Visual impairment ORPHA:228360
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Visual impairment ORPHA:1933
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Acalvaria
Abnormality of neuronal migration ORPHA:945
Fragile X Syndrome
Periventricular heterotopia, Self-biting OMIM:300624
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Aggressive behavior, Self-injurious behavior, Periventricular heterotopia, Ataxia, Irritability OMIM:619833
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Inability to walk OMIM:128100
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Photophobia, High myopia, Abnormality of visual evoked potentials OMIM:614457
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Cognitive impairment, Dementia, Attention deficit hyperactivi... ORPHA:43
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Peroxisomal Acyl-Coa Oxidase Deficiency
Myopia, Abnormality of visual evoked potentials ORPHA:2971
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Myopia, Cerebral visual impairment, Hypermetropia, Abnormality of visual evoked potentials OMIM:616875
Joubert Syndrome
Gait disturbance, Abnormality of neuronal migration, Ataxia, Polymicrogyria ORPHA:475
Radio-Tartaglia Syndrome
Gray matter heterotopia, Aggressive behavior, Gait imbalance, Ataxia OMIM:619312
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Amblyopia, Abnormality of visual evoked potentials OMIM:617523
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Ataxia ORPHA:255138
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Inability to walk, Ataxia OMIM:617563
Friedreich Ataxia
Visual field defect, Reduced visual acuity, Abnormality of visual evoked potentials, Visual impai... OMIM:229300
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Lissencephaly, Pachygy... ORPHA:899
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Chiari Malformation Type Ii
Gray matter heterotopia, Ataxia OMIM:207950
Mepan Syndrome
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:508093
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Progressive languag... OMIM:610042
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
White-Sutton Syndrome
Aggressive behavior, Self-injurious behavior, Irritability, Mild myopia, Visual impairment, Anxie... OMIM:616364
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lethargy, Polymicrogyria OMIM:617397
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Blindness, Emotional lability ORPHA:35069
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Vici Syndrome
Abnormal posturing, Albinism, Hypopigmentation of hair, Failure to thrive, Postnatal growth retar... OMIM:242840
Oculocutaneous Albinism Type 1A
Photophobia, Abnormality of visual evoked potentials, Visual impairment ORPHA:79431
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Neurodegeneration With Brain Iron Accumulation 2A
Visual loss, Abnormality of visual evoked potentials OMIM:256600
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Ataxia ORPHA:2318
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Lissencephaly, Pachygy... ORPHA:35107
Coffin-Lowry Syndrome
Gait disturbance, Self-injurious behavior, Abnormality of neuronal migration ORPHA:192
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Alg11-Cdg
Gray matter heterotopia, Ataxia ORPHA:280071
Man1B1-Cdg
Periventricular heterotopia, Broad-based gait ORPHA:397941
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Myopia, Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:480898
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
Infantile Krabbe Disease
Blindness, Irritability, Visual loss, Photophobia, Abnormality of visual evoked potentials ORPHA:206436
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Subcortical heterotopia, Agyria, Lissencephaly, Type II lissencephaly, P... OMIM:614643
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Type II lissencephaly, Polymicrogyria ORPHA:370959
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Lissencephaly, Pachygy... ORPHA:2211
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Difficulty walking ORPHA:531151
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Abnormality of neuronal migration, Polymicrogyria OMIM:608836
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Self-injurious behavior, Ataxia ORPHA:314679
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Periventricular heterotopia, Anxiety OMIM:618929
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Lissencephaly OMIM:615219
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Neu-Laxova Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Lissencephaly, Pachygy... ORPHA:2671
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Tremor OMIM:618056
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Agitation, Weight loss ORPHA:424
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Joubert Syndrome With Hepatic Defect
Gait disturbance, Abnormality of neuronal migration, Ataxia ORPHA:1454
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Visual impairment ORPHA:485421
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
3C Syndrome
Abnormality of neuronal migration ORPHA:7
16P13.11 Microdeletion Syndrome
Self-injurious behavior, Abnormality of neuronal migration ORPHA:261236
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopia, Subcortic... OMIM:601390
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Orofaciodigital Syndrome Type 6
Gait disturbance, Abnormality of neuronal migration, Ataxia ORPHA:2754
6Q Terminal Deletion Syndrome
Gait ataxia, Gray matter heterotopia, Abnormality of neuronal migration, Periventricular heteroto... ORPHA:75857
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Metachromatic Leukodystrophy, Adult Form
Reduced visual acuity, Abnormality of visual evoked potentials, Emotional lability ORPHA:309271
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Inability to walk ORPHA:26791
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Micro Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:2510
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia OMIM:614105
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Holoprosencephaly
Chorea, Cognitive impairment, Abnormality of neuronal migration ORPHA:2162
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Weight loss ORPHA:99819
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Abnormality of neuronal migration, Anxiety ORPHA:464311
Koolen-De Vries Syndrome
Gray matter heterotopia, Anxiety, Conspicuously happy disposition OMIM:610443
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Unsteady gait, Loss of ambulation, Polymicrogyria OMIM:214100
Hermansky-Pudlak Syndrome
Amblyopia, Visual impairment, Myopia, Photophobia, Abnormality of visual evoked potentials ORPHA:79430
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:157
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Bilateral Perisylvian Polymicrogyria
Dysmetria, Bilateral perisylvian polymicrogyria, Abnormality of neuronal migration, Perisylvian p... ORPHA:98889
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Mental deterioration ORPHA:647
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
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
Tay-Sachs Disease
Exaggerated startle response, Tremor, Dystonia, Laryngeal dystonia ORPHA:845
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Emotional lability, Visual impairment ORPHA:512
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria OMIM:619775
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Broad-based gait, Polymicrogyria OMIM:618918
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:247200
Sandhoff Disease
Exaggerated startle response OMIM:268800
Van Maldergem Syndrome 2
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia OMIM:615546
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Self-injurious behavior, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:468631
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Neuromuscular Oculoauditory Syndrome
Unsteady gait, Periventricular heterotopia OMIM:618733
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Histidinemia
Hyperactivity ORPHA:2157
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria OMIM:620024
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Impaired pain sensation, Gray matter heterotopia ORPHA:453499
Mogs-Cdg
Abnormality of visual evoked potentials ORPHA:79330
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
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gray matter heterotopia, Abnormal cortical gyration, Microlissencephaly, Progressive neurologic d... OMIM:210710
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Cerebrotendinous Xanthomatosis
Aggressive behavior, Abnormality of visual evoked potentials, Suicidal ideation, Visual impairment ORPHA:909
Arima Syndrome
Gray matter heterotopia, Ataxia OMIM:243910
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials OMIM:231550
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Visual loss, Cerebral visual impairment, Abnormality of visual evoked potentials OMIM:203700
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:603671
Opitz-Kaveggia Syndrome
Gray matter heterotopia OMIM:305450
Aicardi Syndrome
Gray matter heterotopia, Pachygyria, Polymicrogyria OMIM:304050
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cortical gyration OMIM:311200
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
Holoprosencephaly 14
Gray matter heterotopia, Periventricular heterotopia OMIM:619895
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Smith-Lemli-Opitz Syndrome
Aggressive behavior, Self-mutilation, Periventricular heterotopia OMIM:270400
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:618820
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia OMIM:612289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Type II lissencephaly OMIM:615287
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia ORPHA:438213
Mowat-Wilson Syndrome
Periventricular heterotopia, Inability to walk, Happy demeanor, Ataxia, Impaired pain sensation, ... ORPHA:2152
Orofaciodigital Syndrome Xiv
Simplified gyral pattern, Periventricular heterotopia, Polymicrogyria OMIM:615948
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Inability to walk, Happy demeanor, Impaired pain sensation, Broad-ba... 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
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Inability to walk, Happy demeanor, Impaired pain sensation, Broad-ba... ORPHA:261552
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Periventricular heterotopia, Pachygyria 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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