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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

Order Alleles

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
7q11.23 duplication syndrome
Short attention span DECIPHER:43
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder 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
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Compulsive behaviors, Attention deficit hyperactivity disorder,... OMIM:137580
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Abnormality of neuronal migration, Attention deficit hype... OMIM:618709
Schizophrenia 15
Hyperactivity OMIM:613950
Symmetrical Thalamic Calcifications
Ataxia, Abnormality of neuronal migration, Cognitive impairment ORPHA:1314
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age ORPHA:356996
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Lissencephaly, X-Linked, 1
Ataxia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:300067
Lissencephaly 3
Ataxia, Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, ... OMIM:611603
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:607432
Optic Atrophy 5
Constriction of peripheral visual field, Central scotoma, Abnormality of pattern visual evoked po... OMIM:610708
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior, Polymicrogyria, Simplified gyral pattern, Abnorm... OMIM:604317
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Cognitive impairment ORPHA:2216
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Dystonia 31
Abnormal posturing, Difficulty walking OMIM:619565
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Abnormal neuron morphology, Abnormality of neuronal m... ORPHA:163681
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention deficit hyperactiv... OMIM:620065
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Abnormal temper tantrums, Att... ORPHA:300573
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Cognitive impairment, Dysphagia OMIM:617008
Optic Atrophy 8
Visual loss, Central scotoma, Abnormality of pattern visual evoked potentials, Visual impairment OMIM:616648
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Stargardt Disease
Central scotoma, Nyctalopia, Reduced visual acuity, Abnormality of visual evoked potentials, Colo... ORPHA:827
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Inability to walk, Unsteady gait, Simplified gyral pattern, Truncal ... OMIM:618273
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
Huntington Disease-Like 1
Dysmetria, Weight loss, Bradykinesia, Gait ataxia, Gait disturbance, Abnormal posturing ORPHA:157941
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Emotional lability, Social... ORPHA:98818
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Abnormal posturing ORPHA:216866
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Tip-toe gait, Difficulty walking ORPHA:370980
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology ORPHA:99802
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... OMIM:615516
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Lethargy, Abnormal posturing, Failure to thrive OMIM:614857
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment ORPHA:309246
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Glutathionuria
Gray matter heterotopia, Dysdiadochokinesis OMIM:231950
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:1389
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Dysgyria ORPHA:352682
Canavan Disease
Abnormality of visual evoked potentials, Blindness, Visual impairment ORPHA:141
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Abnormality of neuronal migration, Depression OMIM:300957
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Bradykinesia, Gait ataxia, Gait disturbance, Abnormal posturing ORPHA:225147
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlissencephaly, Lissenceph... OMIM:616212
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Ataxia OMIM:617201
Mohr-Tranebjaerg Syndrome
Cerebral visual impairment, Visual loss, Central scotoma, Photophobia, Abnormality of visual evok... ORPHA:52368
Tetrasomy 18P
Gait disturbance, Abnormality of neuronal migration ORPHA:3307
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Cognitive impairment ORPHA:93274
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Dysphagia ORPHA:89844
Late-Infantile/Juvenile Krabbe Disease
Blindness, Visual loss, Irritability, Abnormality of visual evoked potentials, Emotional lability... ORPHA:206443
Lissencephaly 5
Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly OMIM:615191
Oculocutaneous Albinism Type 1
Photophobia, Abnormality of visual evoked potentials, Reduced visual acuity, Amblyopia ORPHA:352731
Subependymal Nodular Heterotopia
Gray matter heterotopia, Polymicrogyria, Acroparesthesia, Abnormality of neuronal migration ORPHA:101030
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Periventricular heterotopia OMIM:616171
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Gray matter heterotopia, Gait imbalance, Attention defi... OMIM:619312
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Periventricular heterotopia, Inappropriate laughter, Difficulty walking, Cognitive impair... OMIM:618476
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Blindness, Visual loss, Abnormal amplitude of flash visual evoked potentials, Reduced vis... ORPHA:168491
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormality of neuronal migration OMIM:608840
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials, Constriction of peripheral visual field, Progressive vis... ORPHA:1215
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injuriou... ORPHA:449291
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Nyctalopia, Reduced visual acuity OMIM:618195
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Central scotoma, Color vision defect, Slow decrease in v... OMIM:601152
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Nyctalopia, Visual impairment ORPHA:96
Galloway-Mowat Syndrome
Pachygyria, Abnormality of neuronal migration, Cognitive impairment ORPHA:2065
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Visual impairment ORPHA:1933
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Periventricular heterotopia, Self-biting OMIM:300624
Chiari Malformation Type Ii
Gray matter heterotopia, Ataxia, Dysphagia OMIM:207950
Acalvaria
Abnormality of neuronal migration ORPHA:945
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ataxia, Periventricular heterotopia, Aggressive behavior, Irritability, Self-injurious behavior OMIM:619833
Periventricular Nodular Heterotopia 9
Broad-based gait, Gray matter heterotopia, Compulsive behaviors, Attention deficit hyperactivity ... OMIM:618918
Dystonia 1, Torsion, Autosomal Dominant
Inability to walk, Abnormal posturing OMIM:128100
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac... OMIM:610042
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Photophobia, Abnormality of visual evoked potentials, High myopia OMIM:614457
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Myopia ORPHA:2971
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Myopia, Hypermetropia, Cerebral visual impairment OMIM:616875
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Amblyopia OMIM:617523
Joubert Syndrome
Polymicrogyria, Ataxia, Abnormality of neuronal migration, Gait disturbance ORPHA:475
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Ataxia, Periventricular heterotopia ORPHA:255138
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Visual loss OMIM:256600
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Friedreich Ataxia
Abnormality of visual evoked potentials, Reduced visual acuity, Visual impairment, Visual field d... OMIM:229300
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Inability to walk, Ataxia OMIM:617563
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials, Myopia OMIM:601455
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:899
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Impulsivity, Attention deficit hyperactivity disorder, Periventricular h... OMIM:618929
Man1B1-Cdg
Broad-based gait, Polyphagia, Periventricular heterotopia ORPHA:397941
Mepan Syndrome
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:508093
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
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
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Emotional lability, Blindness ORPHA:35069
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Cln5 Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:228360
Vici Syndrome
Hypopigmentation of hair, Albinism, Postnatal growth retardation, Abnormal posturing, Failure to ... OMIM:242840
Oculocutaneous Albinism Type 1A
Photophobia, Visual impairment, Abnormality of visual evoked potentials ORPHA:79431
Desmosterolosis
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:35107
Joubert Syndrome With Oculorenal Defect
Ataxia, Abnormality of neuronal migration ORPHA:2318
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Myopia, Cerebral visual impairment ORPHA:480898
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618870
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Infantile Krabbe Disease
Blindness, Visual loss, Photophobia, Irritability, Abnormality of visual evoked potentials ORPHA:206436
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Visual loss OMIM:125310
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Emotional lability, Reduced visual acuity ORPHA:309256
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Agyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyr... OMIM:614643
Alg11-Cdg
Gray matter heterotopia, Ataxia ORPHA:280071
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Polymicrogyria, Type II lissencephaly ORPHA:370959
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Emotional lability, Reduced visual acuity ORPHA:309263
White-Sutton Syndrome
Myopia, Mild myopia, Hypermetropia, Irritability, Abnormality of visual evoked potentials, Visual... OMIM:616364
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Difficulty walking ORPHA:531151
Coffin-Lowry Syndrome
Self-injurious behavior, Gait disturbance, Abnormality of neuronal migration ORPHA:192
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2211
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Polymicrogyria, Abnormality of neuronal migration OMIM:608836
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Visual impairment ORPHA:485421
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal repetitive mannerisms, Gait disturbance, Abnormality of neuronal migration, Attention de... ORPHA:464311
Neu-Laxova Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2671
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Dysmetria, Bi... ORPHA:98889
Joubert Syndrome With Hepatic Defect
Ataxia, Abnormality of neuronal migration, Gait disturbance ORPHA:1454
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Emotional lability, Reduced visual acuity, Depression ORPHA:309271
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Agitation, Small for gestational age, Weight loss ORPHA:424
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Inability to walk, Dysphagia ORPHA:26791
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Self-injurious behavior, Ataxia ORPHA:314679
3C Syndrome
Abnormality of neuronal migration ORPHA:7
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Gray matt... ORPHA:75857
Orofaciodigital Syndrome Type 6
Ataxia, Abnormality of neuronal migration, Gait disturbance ORPHA:2754
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
16P13.11 Microdeletion Syndrome
Self-injurious behavior, Abnormality of neuronal migration, Compulsive behaviors ORPHA:261236
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Peroxisome Biogenesis Disorder 1A (Zellweger)
Unsteady gait, Gray matter heterotopia, Dysphagia, Loss of ambulation, Polymicrogyria OMIM:214100
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria, Dysphagia OMIM:619775
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia OMIM:614105
Nijmegen Breakage Syndrome
Mental deterioration, Abnormality of neuronal migration, Attention deficit hyperactivity disorder ORPHA:647
Micro Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:2510
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Holoprosencephaly
Chorea, Abnormality of neuronal migration, Cognitive impairment ORPHA:2162
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:157
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Hermansky-Pudlak Syndrome
Myopia, Amblyopia, Photophobia, Abnormality of visual evoked potentials, Visual impairment ORPHA:79430
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Lissencephaly, Simplified gyral pattern OMIM:615219
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
Tay-Sachs Disease
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia ORPHA:845
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Emotional lability, Visual impairment ORPHA:512
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:228308
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Sandhoff Disease
Exaggerated startle response OMIM:268800
Koolen-De Vries Syndrome
Gray matter heterotopia, Hyperactivity, Impulsivity OMIM:610443
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:247200
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Simplified gyral pattern, Self-injurious behavior, Lissencephaly, Pa... ORPHA:468631
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Impaired pain sensation, Bruxism ORPHA:453499
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Neuromuscular Oculoauditory Syndrome
Unsteady gait, Periventricular heterotopia OMIM:618733
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Histidinemia
Hyperactivity ORPHA:2157
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Polymicrogyria, Attention deficit hyperactivity disorder OMIM:618820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Arima Syndrome
Gray matter heterotopia, Polydipsia, Ataxia OMIM:243910
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Dysphagia ORPHA:261250
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria OMIM:620024
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Inability to walk, Impaired pain sensation, Bruxism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Inability to walk, Impaired pain sensation, Bruxism ORPHA:352665
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials OMIM:231550
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Progressive neurologic deterioration, Microlissencephaly, Gray matter... OMIM:210710
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Mogs-Cdg
Abnormality of visual evoked potentials ORPHA:79330
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:603671
Cerebrotendinous Xanthomatosis
Abnormality of visual evoked potentials, Visual impairment, Depression ORPHA:909
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials, Visual loss, Cerebral visual impairment OMIM:203700
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
Abnormality of visual evoked potentials, Hypermetropia OMIM:133540
Cockayne Syndrome A
Abnormality of visual evoked potentials, Hypermetropia 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
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia OMIM:612289
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Smith-Lemli-Opitz Syndrome
Hyperactivity, Periventricular heterotopia, Self-mutilation, Aggressive behavior OMIM:270400
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
Orofaciodigital Syndrome Xiv
Polymicrogyria, Simplified gyral pattern, Periventricular heterotopia OMIM:615948
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Impaired pain sensation, Periventricular heterotopia, Inability to walk... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Impaired pain sensation, Periventricular heterotopia, Inability to walk, Bruxis... ORPHA:261537
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration OMIM:236680
Proteus Syndrome
Gray matter heterotopia ORPHA:744
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, Impaired pain sensation, Periventricular heterotopia, Inability to walk, Bruxis... ORPHA:261552
Genitopatellar Syndrome
Periventricular heterotopia, Pachygyria, 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

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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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