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Gene: Mier1 MGI:1918398

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Gene Summary

Name:
MEIR1 treanscription regulator
Synonyms:
5830411K19Rik,  4933425I22Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Mier1tm1a(EUCOMM)Wtsi HOM Early adult 5.21×10-07
tremors Mier1tm1a(EUCOMM)Wtsi HOM Early adult 4.47×10-06
abnormal behavior Mier1tm1a(EUCOMM)Wtsi HOM Early adult 2.64×10-10
trunk curl Mier1tm1a(EUCOMM)Wtsi HOM Early adult 2.35×10-12
abnormal tail movements Mier1tm1a(EUCOMM)Wtsi HOM   Early adult 4.08×10-07
abnormal response to new environment Mier1tm1a(EUCOMM)Wtsi HOM   Early adult 5.14×10-07
abnormal vocalization Mier1tm1a(EUCOMM)Wtsi HOM Early adult 4.51×10-06
decreased body weight Mier1tm1a(EUCOMM)Wtsi HOM Early adult 3.31×10-10
decreased circulating free fatty acids level Mier1tm1a(EUCOMM)Wtsi HOM Early adult 8.25×10-05
decreased body length Mier1tm1a(EUCOMM)Wtsi HOM Early adult 8.93×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 5)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 5)
Bone N/A heterozygote 100% (5 of 5)
Brain N/A heterozygote 0.0% (0 of 5)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 5)
Cartilage tissue N/A heterozygote 0.0% (0 of 5)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 5)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 0.0% (0 of 5)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (5 of 5)
Large intestine N/A heterozygote 0.0% (0 of 5)
Liver N/A heterozygote 0.0% (0 of 5)
Lower urinary tract N/A heterozygote 0.0% (0 of 5)
Lung N/A heterozygote 0.0% (0 of 5)
Lymph node N/A heterozygote 0.0% (0 of 5)
Mammary gland N/A heterozygote 0.0% (0 of 5)
Esophagus N/A heterozygote 0.0% (0 of 5)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 5)
Oviduct N/A heterozygote 0.0% (0 of 5)
Pancreas N/A heterozygote 0.0% (0 of 5)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 5)
Peyer's patch N/A heterozygote 0.0% (0 of 5)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 40% (2 of 5)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 5)
Skin N/A heterozygote 0.0% (0 of 5)
Small intestine N/A heterozygote 0.0% (0 of 5)
Spinal cord N/A heterozygote 0.0% (0 of 5)
Spleen N/A heterozygote 0.0% (0 of 5)
Stomach N/A heterozygote 100% (5 of 5)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 5)
Thymus N/A heterozygote 0.0% (0 of 5)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 0.0% (0 of 5)
Uterus N/A heterozygote 0.0% (0 of 5)
White adipose tissue N/A heterozygote 0.0% (0 of 5)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Mier1tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Mier1tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Mier1tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Mier1tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Mier1tm1a(EUCOMM)Wtsi
HOM, Male, WTSI

View all 179 images

Mier1tm1a(EUCOMM)Wtsi
tail skin, HOM, Female, WTSI
Mier1tm1a(EUCOMM)Wtsi
tail skin, HOM, Female, WTSI

Human diseases caused by Mier1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mier1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Abnor... OMIM:619565
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... OMIM:619491
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Tremor, Babinski sign, Flexion contracture, Cognitive impairment, Spasticity OMIM:611105
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst... ORPHA:401901
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Abnormality of extrapyramidal moto... OMIM:614561
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... ORPHA:79262
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Huntington Disease-Like 2
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Weight loss, Deme... OMIM:606438
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Mental deterioration, Spasticity ORPHA:309169
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Depr... ORPHA:216873
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness... ORPHA:157941
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus OMIM:159900
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Depression, Dementia, Abnormality of extra... OMIM:615362
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression... OMIM:618093
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia,... OMIM:615924
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Tremor, Babinski ... OMIM:128100
Migraine, Familial Hemiplegic, 1
Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... OMIM:604326
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Cognitive ... ORPHA:314632
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... OMIM:213600
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Dystonia, Mental deterioration, Abnormal posturing OMIM:304700
Epilepsy, Progressive Myoclonic 7
Tremor, Mental deterioration, Ataxia, Myoclonus OMIM:616187
Dystonia 12
Torticollis, Parkinsonism, Tremor, Depression, Bradykinesia, Dystonia, Emotional lability OMIM:128235
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia OMIM:605909
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Parkinson-Dementia Syndrome
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia OMIM:260540
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonu... OMIM:261630
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal ataxia, Spasticity OMIM:615768
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Mental deteriorat... ORPHA:240103
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Cognitive impairme... OMIM:617284
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus, Dystonia OMIM:619651
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Spasticity, Opisthotonus, Weight loss, Cognitive impairment, Attention defi... ORPHA:216866
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Short attention span, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubatio... ORPHA:225147
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i... ORPHA:98763
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Depression, Bradykinesia, Dystonia, Mental deterioration, Memory impairment, Pa... ORPHA:240085
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Progressive neurologic deterioration, Small for gestational age, Tremor, Ri... OMIM:261640
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Ataxia, Poor motor coordination, Reduc... ORPHA:363400
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... OMIM:606159
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bra... ORPHA:521406
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dysmetria, Gait ataxia, Limb ataxi... OMIM:617145
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depression, Memory impair... OMIM:137440
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Perry Syndrome
Parkinsonism, Tremor, Depression, Weight loss, Dementia, Abnormality of extrapyramidal motor func... ORPHA:178509
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Dementia, Myoclonus,... ORPHA:79263
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cog... ORPHA:70594
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... ORPHA:282166
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Small for gestational age OMIM:278780
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Generalized dystonia, Ataxia, Writer's cramp, Head titubation, Tremor,... OMIM:312080
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Short attention span, Ataxia, Tremor, Dysmetria, Myoclonus OMIM:619028
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria ORPHA:363710
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Mental deterioration, Limb ataxia, Gait ataxia, Dementia, Cogni... OMIM:208920
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinet... OMIM:233910
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Dystonia ORPHA:306669
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Parkinsonism, Tremor, Abnormal fear-induced behavior, Obes... ORPHA:3077
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A... OMIM:619738
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterioration, Limb joint co... OMIM:617013
Spinocerebellar Ataxia With Epilepsy
Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer... ORPHA:254881
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Confusion, Truncal titubation, Rigidity, Chorea, Babinski sign, Abnormal pyramidal sign, Parapare... OMIM:607483
Sneddon Syndrome
Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment ORPHA:820
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis ORPHA:329284
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait OMIM:600363
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Depression, Cognitive imp... OMIM:616795
Epilepsy, Progressive Myoclonic, 6
Tremor, Memory impairment, Ataxia, Myoclonus OMIM:614018
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cognitive impairment, Dystonia, Mental deterioration, Em... ORPHA:542310
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a... ORPHA:1170
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia OMIM:612126
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... ORPHA:101
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Classic Phenylketonuria
Tremor, Mental deterioration, Paraplegia, Depression, Hypertonia, Attention deficit hyperactivity... ORPHA:79254
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Spinocerebellar Ataxia Type 27
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Depression, Truncal ataxia, Memory impairment ORPHA:98764
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia OMIM:618049
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Head titubation, Tremor, Rigidity, Gait ataxia, Choreoathetosis, Bradykin... OMIM:618877
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Myoclonus, Attentio... ORPHA:442835
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Saccharopinuria
Tremor, Spastic diplegia, Gait ataxia, Cognitive impairment, Mental deterioration ORPHA:3124
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Frontotemporal dementia, Depression, Bradykinesia, Weight loss, D... OMIM:168605
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Spinocerebellar Ataxia Type 21
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis, Mental det... OMIM:300894
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Behr Syndrome
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Dysmetria, Adductor longus contractur... OMIM:210000
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Mental deteriorat... ORPHA:52368
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment OMIM:607876
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Failure to thrive, Inguinal hernia OMIM:614857
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Menta... OMIM:614298
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Mental deterioration, Blepharospas... ORPHA:240071
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Progressive Supranuclear Palsy
Tremor, Rigidity, Depression, Blepharospasm, Bradykinesia, Dementia, Cognitive impairment, Dyston... ORPHA:683
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dystonia OMIM:168600
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Progressive neurologic deterioration, Tremor, Rigidity, Hypertonia, Dementia, Spasticity OMIM:176500
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Head titubation, Tremor, Babinski sign... ORPHA:99027
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Ataxia, Dysmetria, Titubation OMIM:619405
Sandifer Syndrome
Abnormal posturing, Torticollis, Hiatus hernia ORPHA:71272
Young-Onset Parkinson Disease
Short attention span, Tremor, Rigidity, Depression, Bradykinesia, Frontal lobe dementia, Dementia... ORPHA:2828
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Frontotemporal dementia, Parkinsonism with favorable response t... ORPHA:199351
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Migraine, Familial Hemiplegic, 2
Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Citrullinemia Type Ii
Decreased body mass index, Hypertriglyceridemia, Hypercholesterolemia, Confusion, Tremor, Hyperli... ORPHA:247585
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... ORPHA:48818
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Incoordination, Dystonia, Tremor, Dysmetria, ... ORPHA:845
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Dementia, Oculomotor apraxia ORPHA:240094
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... OMIM:613280
Serotonin Syndrome
Clonus, Confusion, Tremor, Rigidity, Irritability, Hypertonia, Myoclonus, Mental deterioration, D... ORPHA:43116
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Me... OMIM:615530
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss, Periodic paralysis OMIM:613239
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, D... OMIM:234200
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... ORPHA:646
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Irritability, Hypertonia ORPHA:1578
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment OMIM:146500
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Irritability, Retro... OMIM:601104
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Vici Syndrome
Abnormal posturing, Failure to thrive OMIM:242840

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 Mier1

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 Mier1.

There are 5 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) Mier1tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Mier1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Mier1tm1a(EUCOMM)Wtsi PMC6459510
An efficient method for generation of bi-allelic null mutant mouse embryonic stem cells and its application for investigating epigenetic modifiers. Nucleic acids research (December 2017) Mier1tm1a(EUCOMM)Wtsi PMC5716182
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Mier1tm1a(EUCOMM)Wtsi PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mier1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mier1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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