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:
Drd-4,  D4R

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 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
Attention deficit hyperactivity disorder, Hyperactivity 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
Night Blindness, Congenital Stationary, Type 2A
Congenital stationary night blindness, Visual impairment, Reduced visual acuity OMIM:300071
Myopia 22, Autosomal Dominant
Myopia, Visual impairment, Reduced visual acuity OMIM:615420
Optic Atrophy 1
Reduced visual acuity, Central scotoma, Centrocecal scotoma, Tritanomaly, Visual impairment, Red-... OMIM:165500
Choroideremia
Nyctalopia, Abnormality of vision, Myopia, Progressive visual loss, Visual impairment ORPHA:180
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Reduced visual acuity OMIM:618195
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Visual loss, Central scotoma, Visual impairment OMIM:616648
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Stargardt Disease
Nyctalopia, Reduced visual acuity, Central scotoma, Color vision defect, Abnormality of visual ev... 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
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials, Reduced visual acuity ORPHA:357225
Night Blindness, Congenital Stationary, Type 1A
High myopia, Hemeralopia, Myopia, Congenital stationary night blindness OMIM:310500
Night Blindness, Congenital Stationary, Type 1B
Hemeralopia, Nyctalopia, Myopia, Congenital stationary night blindness OMIM:257270
Paragangliomas 1
Episodic paroxysmal anxiety, Extraadrenal pheochromocytoma, Vagal paraganglioma, Adrenal pheochro... OMIM:168000
Paragangliomas 3
Episodic paroxysmal anxiety, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Elevated ci... OMIM:605373
Oculocutaneous Albinism Type 1
Amblyopia, Photophobia, Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:352731
Mohr-Tranebjaerg Syndrome
Visual loss, Central scotoma, Color vision defect, Cerebral visual impairment, Visual impairment,... ORPHA:52368
Autosomal Dominant Optic Atrophy Plus Syndrome
Constriction of peripheral visual field, Abnormality of visual evoked potentials, Progressive vis... ORPHA:1215
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Color vision defect, Central scotoma, Abnormality of visual evoked potentials, Slow decrease in v... OMIM:601152
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Amblyopia, Abnormality of visual evoked potentials OMIM:617523
Ataxia With Vitamin E Deficiency
Nyctalopia, Abnormality of visual evoked potentials, Visual impairment ORPHA:96
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Visual loss, Abnormality of visual evoked potentials OMIM:125310
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
Peroxisomal Acyl-Coa Oxidase Deficiency
Myopia, Abnormality of visual evoked potentials ORPHA:2971
Late Infantile Neuronal Ceroid Lipofuscinosis
Visual loss, Reduced visual acuity, Myopia, Blindness, Abnormal amplitude of flash visual evoked ... ORPHA:168491
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
High myopia, Abnormality of visual evoked potentials OMIM:614457
Friedreich Ataxia
Visual field defect, Abnormality of visual evoked potentials, Visual impairment, Reduced visual a... OMIM:229300
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebral visual impairment, Abnormality of visual evoked potentials, Myopia, Hypermetropia OMIM:616875
Oculocutaneous Albinism Type 1A
Photophobia, Abnormality of visual evoked potentials, Visual impairment ORPHA:79431
Late-Infantile/Juvenile Krabbe Disease
Blindness, Visual loss, Abnormality of visual evoked potentials, Visual impairment ORPHA:206443
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Neurodegeneration With Brain Iron Accumulation 2A
Visual loss, Abnormality of visual evoked potentials OMIM:256600
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
White-Sutton Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials, Myopia, Hypermetropia OMIM:616364
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials, Myopia 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
Blindness, Photophobia, Visual loss, Abnormality of visual evoked potentials ORPHA:206436
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Hermansky-Pudlak Syndrome
Myopia, Amblyopia, Visual impairment, Photophobia, Abnormality of visual evoked potentials ORPHA:79430
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Visual loss, Cerebral visual impairment, Abnormality of visual evoked potentials OMIM:203700
Micro Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:2510
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309263
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paraganglioma, Anxiety, Elevated circulatin... ORPHA:892
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309271
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials OMIM:231550
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Visual impairment ORPHA:512
Cockayne Syndrome A
Abnormality of visual evoked potentials, Hypermetropia OMIM:216400
Cockayne Syndrome B
Abnormality of visual evoked potentials, Hypermetropia OMIM:133540
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
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) Targeting vectors, ES Cells

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