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Gene: Dctn1 MGI:107745

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Gene Summary

Name:
dynactin 1
Synonyms:
p150,  Glued,  p150glued

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Dctn1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating creatinine level Dctn1tm1a(EUCOMM)Wtsi HET Early adult 2.96×10-09

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Select physiological systems to view:
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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.

X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Legacy Phenotype Associated Images
Dctn1tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Dctn1tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Dctn1tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Dctn1tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Dctn1tm1a(EUCOMM)Wtsi
WT, Female, WTSI

View all 165 images

Dctn1tm1a(EUCOMM)Wtsi
left eye, WT, Female, WTSI
Dctn1tm1a(EUCOMM)Wtsi
right eye, WT, Female, WTSI
Dctn1tm1a(EUCOMM)Wtsi
right eye, WT, Male, WTSI
Dctn1tm1a(EUCOMM)Wtsi
right eye, WT, Female, WTSI
Dctn1tm1a(EUCOMM)Wtsi
right eye, WT, Female, WTSI

View all 9 images

Human diseases caused by Dctn1 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 Dctn1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... OMIM:105400
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Abnormal lower motor neuron morphology OMIM:607641
Amyotrophic Lateral Sclerosis
Neurodegeneration, Amyotrophic lateral sclerosis, Motor neuron atrophy ORPHA:803
Perry Syndrome
Dystonia, Short stepped shuffling gait, Bradykinesia, Akinesia OMIM:168605
Perry Syndrome
ORPHA:178509

The table below shows human diseases predicted to be associated to Dctn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amyotrophic Lateral Sclerosis 19
Loss of ability to walk, Amyotrophic lateral sclerosis OMIM:615515
Azotemia, Familial
Azotemia OMIM:109160
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
Amyotrophic Lateral Sclerosis 4, Juvenile
Pallor of dorsal columns of the spinal cord, Amyotrophic lateral sclerosis, Axonal degeneration, ... OMIM:602433
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:614373
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:105500
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Spastic gait, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Ab... OMIM:205100
Amyotrophic Lateral Sclerosis 5, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:602099
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... OMIM:105400
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Ataxia, Amyotrophic lateral sclerosis, Cerebral cortical atrophy OMIM:615911
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Abnormal upper motor neuron morphology OMIM:611637
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy OMIM:616437
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Amyotrophic lateral sclerosis OMIM:300857
Spinal Muscular Atrophy, Type Iv
Degeneration of anterior horn cells OMIM:271150
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells OMIM:253550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Abnormal lower motor neur... OMIM:105550
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Axonal degeneration, Degeneration of anterior horn cells OMIM:604484
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Dystonia, Gait disturbance, Temporal cortical atrophy, Amyotrophic lateral sclerosis, Facial pals... OMIM:167320
Spinal Muscular Atrophy, Type Iii
Degeneration of anterior horn cells OMIM:253400
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Juvenile Primary Lateral Sclerosis
Spastic gait, Gait imbalance, Abnormal upper motor neuron morphology ORPHA:247604
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Degeneration of anterior horn cells OMIM:607596
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Abnormal lower motor neuron morphology, Truncal ataxia, Unsteady g... ORPHA:95434
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Difficulty walking, Abnormal lower motor neuron morphology OMIM:613954
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Difficulty walking, Degeneration of anterior horn cells OMIM:159950
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608627
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Motor Neuron Disease With Dementia And Ophthalmoplegia
Degeneration of anterior horn cells, Cerebral atrophy OMIM:600333
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Abnormal lower motor neuron morphology OMIM:607641
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Cranial nerve compression, Waddl... ORPHA:52430
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron m... OMIM:606070
Amyotrophic Lateral Sclerosis
Neurodegeneration, Amyotrophic lateral sclerosis, Motor neuron atrophy ORPHA:803
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Waddling gait, Difficulty walking, Abnormal lower motor neuron morphology OMIM:611067
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Arm dystonia, Axial dystonia, Oromandibular dystonia, Amyotrophic lateral sclerosis, Re... ORPHA:300605
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Degeneration of anterior horn cells OMIM:301830
Vocal Cord And Pharyngeal Distal Myopathy
Unsteady gait, Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Difficulty wal... ORPHA:600
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Primary Lateral Sclerosis, Juvenile
Spastic gait, Abnormal upper motor neuron morphology, Cerebral cortical atrophy OMIM:606353
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Machado-Joseph Disease Type 3
Dystonia, Cerebellar atrophy, Degeneration of the striatum, Progressive gait ataxia, Progressive ... ORPHA:276244
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Gait disturbance, Abnormal upper motor neuron morphology OMIM:263570
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Facial diplegia, Inability to walk, Abnormal anterior horn cell morphology, Paucity of ... OMIM:611890
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Spinocerebellar atrophy, Ataxia, Gait ataxia, Abnormal upper motor neuron mor... OMIM:215470
Tyrosinosis
Hypertyrosinemia OMIM:276800
Idiopathic Camptocormia
Dystonia, Amyotrophic lateral sclerosis, Syringomyelia, Myelitis, Cerebral atrophy ORPHA:1320
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Primary Lateral Sclerosis
Cervical spinal cord atrophy, Spastic gait, Abnormal upper motor neuron morphology, Atrophy of th... ORPHA:35689
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology OMIM:613724
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Axonal degeneration, Decreased nerve conduction velocity, Degeneration of anterior horn cells OMIM:604320
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Orthostatic hypotension, Decreased nerve conduction velocity, Degeneration of anterior horn cells OMIM:118301
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Optic atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Cerebral cortical atrophy, Abnorm... OMIM:607694
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells OMIM:271225
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Global brain atrophy, Progressive cerebellar at... ORPHA:275872
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Gait disturbance, Abnormal upper motor neuron morphology, Cerebral atrophy OMIM:221770
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Neurodegeneration With Brain Iron Accumulation 4
Gait disturbance, Dystonia, Cerebellar atrophy, Optic atrophy, Neurodegeneration, Oromandibular d... OMIM:614298
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia OMIM:235400
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Decreased HDL cholesterol concentration, Decreased... ORPHA:85450
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Spastic Paraplegia 9A, Autosomal Dominant
Gait disturbance, Abnormal upper motor neuron morphology OMIM:601162
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine OMIM:618885
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyp... ORPHA:90038
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:99826
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:449395
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholesterolemia, Increase... OMIM:619534
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Elevated circulating C-reactive protein concentration, Elevated circulating creati... ORPHA:91500
Perry Syndrome
Dystonia, Short stepped shuffling gait, Bradykinesia, Akinesia OMIM:168605
Perry Syndrome
ORPHA:178509

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 Dctn1

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 Dctn1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Dctn1tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dctn1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Dctn1tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Dctn1tm1a(EUCOMM)Wtsi