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Gene: Drd4 MGI:94926

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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 D4
Synonyms:
D4R,  Drd-4

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 Drd4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Drd4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465

The table below shows human diseases predicted to be associated to Drd4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Photoparoxysmal Response 1
EEG with photoparoxysmal response OMIM:132100
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Optic Atrophy 8
Visual loss, Abnormality of pattern visual evoked potentials, Central scotoma, Visual impairment OMIM:616648
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Stargardt Disease
Central scotoma, Color vision defect, Reduced visual acuity, Abnormality of visual evoked potenti... ORPHA:827
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:1389
Canavan Disease
Blindness, Abnormality of visual evoked potentials, Visual impairment ORPHA:141
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Primary Non-Essential Cutis Verticis Gyrata
Reduced visual acuity, Abnormality of pattern visual evoked potentials ORPHA:357225
Intellectual Developmental Disorder And Retinitis Pigmentosa
Reduced visual acuity, Nyctalopia, Abnormal flash visual evoked potentials OMIM:618195
Paragangliomas 1
Glomus jugular tumor, Episodic paroxysmal anxiety, Elevated circulating catecholamine level, Glom... OMIM:168000
Paragangliomas 3
Glomus jugular tumor, Episodic paroxysmal anxiety, Elevated circulating catecholamine level, Chem... OMIM:605373
Oculocutaneous Albinism Type 1
Amblyopia, Abnormality of visual evoked potentials, Photophobia, Reduced visual acuity ORPHA:352731
Mohr-Tranebjaerg Syndrome
Cerebral visual impairment, Central scotoma, Visual loss, Color vision defect, Visual impairment,... ORPHA:52368
Autosomal Dominant Optic Atrophy Plus Syndrome
Progressive visual loss, Constriction of peripheral visual field, Abnormality of visual evoked po... ORPHA:1215
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
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Nyctalopia, Visual impairment ORPHA:96
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Visual impairment ORPHA:1933
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Photophobia, High myopia, Abnormality of visual evoked potentials OMIM:614457
Peroxisomal Acyl-Coa Oxidase Deficiency
Myopia, Abnormality of visual evoked potentials ORPHA:2971
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Amblyopia, Abnormality of visual evoked potentials OMIM:617523
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Myopia, Cerebral visual impairment, Hypermetropia, Abnormality of visual evoked potentials OMIM:616875
Friedreich Ataxia
Visual field defect, Reduced visual acuity, Abnormality of visual evoked potentials, Visual impai... OMIM:229300
Late Infantile Neuronal Ceroid Lipofuscinosis
Blindness, Visual loss, Myopia, Reduced visual acuity, Abnormality of visual evoked potentials, A... ORPHA:168491
Late-Infantile/Juvenile Krabbe Disease
Visual loss, Blindness, Abnormality of visual evoked potentials, Visual impairment ORPHA:206443
Oculocutaneous Albinism Type 1A
Photophobia, Abnormality of visual evoked potentials, Visual impairment ORPHA:79431
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Mepan Syndrome
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:508093
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Visual loss, Abnormality of visual evoked potentials OMIM:125310
Neurodegeneration With Brain Iron Accumulation 2A
Visual loss, Abnormality of visual evoked potentials OMIM:256600
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Myopia, Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:480898
Cln5 Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:228360
Infantile Neuroaxonal Dystrophy
Blindness, Abnormality of visual evoked potentials ORPHA:35069
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Visual impairment ORPHA:485421
Infantile Krabbe Disease
Visual loss, Photophobia, Blindness, Abnormality of visual evoked potentials ORPHA:206436
White-Sutton Syndrome
Mild myopia, Visual impairment, Myopia, Hypermetropia, Abnormality of visual evoked potentials OMIM:616364
Metachromatic Leukodystrophy, Late Infantile Form
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:309263
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Micro Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:2510
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Hermansky-Pudlak Syndrome
Amblyopia, Visual impairment, Myopia, Photophobia, Abnormality of visual evoked potentials ORPHA:79430
Von Hippel-Lindau Disease
Anxiety, Pancreatic endocrine tumor, Elevated circulating catecholamine level, Pancreatic islet c... ORPHA:892
Metachromatic Leukodystrophy, Adult Form
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:309271
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Visual impairment ORPHA:512
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials OMIM:231550
Mogs-Cdg
Abnormality of visual evoked potentials ORPHA:79330
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Visual loss, Cerebral visual impairment, Abnormality of visual evoked potentials OMIM:203700
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
Cerebrotendinous Xanthomatosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:909
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:667

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 Drd4

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 Drd4.

No publications found that use IMPC mice or data for Drd4.

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MGI Allele Allele Type Produced
Drd4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Drd4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Drd4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Drd4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Drd4tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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