Gene Summary

Name:
dynactin 1
Synonyms:
p150,  Glued,  p150glued

IMPC Data Collections

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.

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

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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 Skull Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Forepaw

13 Images

Legacy Phenotype Associated Images

View all 165 images

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 anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... OMIM:105400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Amyotrophic Lateral Sclerosis
Neurodegeneration, Amyotrophic lateral sclerosis, Motor neuron atrophy ORPHA:803
Perry Syndrome
Akinesia, Short stepped shuffling gait 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 ambulation, Amyotrophic lateral sclerosis OMIM:615515
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Gait disturbance OMIM:608030
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:614373
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 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
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 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Decreased compound muscle action potential amplitude, Axonal degeneration, Pa... OMIM:602433
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:613435
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Hippocampal atrophy, Amyotrophic lateral sclerosis, Caudate atrophy OMIM:617892
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... OMIM:105400
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Abnormal upper motor neuron morphology OMIM:611637
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
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
Spinal Muscular Atrophy, Type Iii
Degeneration of anterior horn cells, Loss of ambulation OMIM:253400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Neuronal loss in central nervous system, Abnormal lower motor neuron morphology... OMIM:105550
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Gait ataxia, Unsteady gait, Abnormal ... ORPHA:95434
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Juvenile Primary Lateral Sclerosis
Spastic gait, Abnormal upper motor neuron morphology, Gait imbalance ORPHA:247604
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Gait disturbance, Axonal degeneration OMIM:604484
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Difficulty walking, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:613954
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Loss of ambulation, Amyotrophic lateral sclerosis OMIM:608627
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Ataxia, Amyotrophic lateral sclerosis OMIM:615911
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Difficulty walking, Facial palsy OMIM:159950
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology, Decreased motor nerve conduction velocity DECIPHER:29
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Spinal Muscular Atrophy, Type Iv
Degeneration of anterior horn cells, Waddling gait OMIM:271150
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, Brain atrophy, Waddling gait, Cranial nerve compression, Amyotr... ORPHA:52430
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Difficulty walking, Waddling gait, Abnormal lower motor neuron morphology OMIM:611067
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Facial palsy, Decreased compound muscle action potential amp... OMIM:301830
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Degeneration of anterior horn cells, Ataxia, Cerebral cortical atrophy OMIM:607596
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Degeneration of anterior horn cells, Ataxia, Cerebral cortical atrophy ORPHA:2254
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic gait, Tip-toe gait, Difficulty walking, Abnormal upper motor neuron morphology, Ataxia, A... OMIM:205100
Primary Lateral Sclerosis, Juvenile
Spastic gait, Decreased compound muscle action potential amplitude, Abnormal upper motor neuron m... OMIM:606353
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Difficulty walking, Unsteady gait, Amyotrophic lateral scler... ORPHA:600
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Decreased nerve conduction velocity, Amyotrophic lateral ... OMIM:606070
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Juvenile Amyotrophic Lateral Sclerosis
Tip-toe gait, Difficulty walking, Inability to walk, Ataxia, Amyotrophic lateral sclerosis ORPHA:300605
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Tyrosinosis
Hypertyrosinemia OMIM:276800
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Cerebellar atrophy, Gait ataxia,... OMIM:215470
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Machado-Joseph Disease Type 3
Progressive cerebellar ataxia, Degeneration of the striatum, Cerebellar atrophy, Progressive gait... ORPHA:276244
Amyotrophic Lateral Sclerosis
Neurodegeneration, Amyotrophic lateral sclerosis, Motor neuron atrophy ORPHA:803
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Difficulty walking, Inability to walk, Abnormal anterior horn cell morphology, ... OMIM:611890
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology ORPHA:1145
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
Primary Lateral Sclerosis
Spastic gait, Atrophy of the spinal cord, Abnormal upper motor neuron morphology, Cervical spinal... ORPHA:35689
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Decreased nerve conduction velocity, Axonal degeneration OMIM:604320
Histidinemia
Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia, Histidinuria OMIM:235800
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Orthostatic hypotension, Gait disturbance OMIM:263570
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Idiopathic Camptocormia
Cerebral atrophy, Syringomyelia, Amyotrophic lateral sclerosis, Myelitis ORPHA:1320
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Elevated circulating creatinine concentration OMIM:620366
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells OMIM:271225
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Progressive cerebellar ataxia, Abnormal upper motor neuron morphology, Abno... ORPHA:275872
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Cerebral atrophy, Gait disturbance, Caudate atrophy OMIM:221770
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... OMIM:613095
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co... OMIM:608836
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Spastic Paraplegia 9A, Autosomal Dominant
Spastic gait, Abnormal upper motor neuron morphology, Gait disturbance, Corpus callosum atrophy, ... OMIM:601162
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia OMIM:618885
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele... ORPHA:411634
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Elevated circulating creatinine concentration, Decreased... ORPHA:85450
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:36234
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Reduced haptoglobin level OMIM:301110
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... ORPHA:90038
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Hypomagnesemia 3, Renal
Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric... OMIM:248250
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Marburg Hemorrhagic Fever
Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... ORPHA:99826
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... ORPHA:449395
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ... ORPHA:99829
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Aminoaciduria, Elevated circulating C-reactive pro... ORPHA:91500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... OMIM:619534
Perry Syndrome
Akinesia, Short stepped shuffling gait 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