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

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
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
Myopia 22, Autosomal Dominant
Reduced visual acuity, Visual impairment, Myopia OMIM:615420
Optic Atrophy 1
Centrocecal scotoma, Tritanomaly, Abnormal amplitude of pattern reversal visual evoked potentials... OMIM:165500
Choroideremia
Nyctalopia, Visual impairment, Progressive visual loss, Abnormality of vision, Myopia ORPHA:180
Intellectual Developmental Disorder And Retinitis Pigmentosa
Reduced visual acuity, Abnormal flash visual evoked potentials OMIM:618195
Optic Atrophy 8
Central scotoma, Visual impairment, Abnormality of pattern visual evoked potentials, Visual loss OMIM:616648
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Stargardt Disease
Nyctalopia, Color vision defect, Reduced visual acuity, Abnormality of visual evoked potentials, ... ORPHA:827
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
Primary Non-Essential Cutis Verticis Gyrata
Reduced visual acuity, Abnormality of pattern visual evoked potentials ORPHA:357225
Night Blindness, Congenital Stationary, Type 1A
Hemeralopia, Congenital stationary night blindness, High myopia, Myopia OMIM:310500
Night Blindness, Congenital Stationary, Type 1B
Hemeralopia, Congenital stationary night blindness, Nyctalopia, Myopia OMIM:257270
Paragangliomas 1
Glomus jugular tumor, Extraadrenal pheochromocytoma, Episodic paroxysmal anxiety, Glomus tympanic... OMIM:168000
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Paragangliomas 3
Glomus jugular tumor, Extraadrenal pheochromocytoma, Episodic paroxysmal anxiety, Elevated circul... OMIM:605373
Oculocutaneous Albinism Type 1
Photophobia, Reduced visual acuity, Abnormality of visual evoked potentials, Amblyopia ORPHA:352731
Mohr-Tranebjaerg Syndrome
Photophobia, Color vision defect, Abnormality of visual evoked potentials, Visual loss, Central s... ORPHA:52368
Autosomal Dominant Optic Atrophy Plus Syndrome
Progressive visual loss, Abnormality of visual evoked potentials, Constriction of peripheral visu... ORPHA:1215
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Amblyopia OMIM:617523
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
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Visual impairment, Nyctalopia 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 Mental Retardation
High myopia, Abnormality of visual evoked potentials OMIM:614457
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Myopia ORPHA:2971
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, Reduced visual acuity, Abnormality of visua... ORPHA:168491
Friedreich Ataxia
Visual field defect, Abnormality of visual evoked potentials, Visual impairment, Reduced visual a... OMIM:229300
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Hypermetropia, Abnormality of visual evoked potentials, Myopia, Cerebral visual impairment OMIM:616875
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Visual impairment, Visual loss, Blindness 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
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Visual loss OMIM:125310
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Visual loss OMIM:256600
Cln5 Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:228360
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Myopia, Cerebral visual impairment ORPHA:480898
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Blindness ORPHA:35069
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Visual impairment ORPHA:485421
Infantile Krabbe Disease
Photophobia, Abnormality of visual evoked potentials, Blindness, Visual loss ORPHA:206436
White-Sutton Syndrome
Hypermetropia, Abnormality of visual evoked potentials, Mild myopia, Visual impairment, Myopia OMIM:616364
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials, Visual loss, Cerebral visual impairment OMIM:203700
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
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:2510
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Hermansky-Pudlak Syndrome
Photophobia, Abnormality of visual evoked potentials, Amblyopia, Visual impairment, Myopia ORPHA:79430
Von Hippel-Lindau Disease
Anxiety, Paraganglioma, Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancr... 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
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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