Gene: Milr1 MGI:2685731

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Gene Summary

Name:
mast cell immunoglobulin like receptor 1
Synonyms:
LOC380732,  Allergin-1,  Gm885

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
decreased anxiety-related response Milr1tm1b(EUCOMM)Hmgu HOM Early adult 5.75×10-07
abnormal retinal blood vessel morphology Milr1tm1b(EUCOMM)Hmgu HOM Early adult 2.60×10-05
decreased thigmotaxis Milr1tm1b(EUCOMM)Hmgu HOM Early adult 7.89×10-06
hyperactivity Milr1tm1b(EUCOMM)Hmgu HOM Early adult 6.91×10-07
abnormal behavior Milr1tm1b(EUCOMM)Hmgu HOM Early adult 7.89×10-06
abnormal retina morphology Milr1tm1b(EUCOMM)Hmgu HOM Early adult 9.35×10-06

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  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 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.

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Human diseases caused by Milr1 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 Milr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:280397
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Maculopapular exanthema, Splenomegaly, Abnor... ORPHA:98848
Mental Retardation, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Cutaneous Mastocytoma
Cutaneous mastocytosis ORPHA:79455
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Dystonia 11, Myoclonic
Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Immunodeficiency 8
Hyperactivity OMIM:615401
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Ataxia, Optic disc pallor, Anxiety, Retinal thinning OMIM:618970
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Cutaneous mastocytosis ORPHA:280785
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Anxiety OMIM:128235
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Huntington Disease-Like 2
Dystonia, Depression, Apathy, Bradykinesia, Irritability, Anxiety OMIM:606438
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Emotional lability, Optic nerve hypoplasia, Dysmetria, Attention deficit hyperactivity di... OMIM:614306
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Maculopapular exanthema, Pan... ORPHA:98850
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabil... ORPHA:248111
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an... ORPHA:3077
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Myocarditis, Increased propor... ORPHA:2442
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Lennox-Gastaut Syndrome
Personality disorder, Falls, Aggressive behavior, Hyperactivity ORPHA:2382
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Emotional lability, Impulsivity, Anxiety, Hyperacti... ORPHA:98818
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Diffuse Cutaneous Mastocytosis
Erythroderma, Leukemia, Cutaneous mastocytosis ORPHA:79456
Maculopapular Cutaneous Mastocytosis
Rhinitis, Cutaneous mastocytosis ORPHA:79457
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Lethargy, Hyperactivity OMIM:274270
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Sotos Syndrome 3
Hyperactivity OMIM:617169
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Norrie Disease
Aggressive behavior, Retinal dysplasia, Retinal detachment, Optic atrophy, Retinal fold OMIM:310600
Retinal Venous Beading
Retinal neovascularization, Retinal infarction, Vitreous hemorrhage, Abnormal distribution of ret... OMIM:180080
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Hypobetalipoproteinemia, Familial, 1
Ataxia, Rod-cone dystrophy, Retinal degeneration OMIM:615558
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Impulsivity, Depression ORPHA:88616
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Ch├ędiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Skin rash, Vacuolated lymphocytes, Ab... ORPHA:167
Gm2 Gangliosidosis, Ab Variant
Dystonia, Anxiety, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cherry red spo... ORPHA:309246
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Aggressive behavior, Hyperactivity ORPHA:369939
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
Optic Atrophy 11
Dysmetria, Optic atrophy, Ataxia, Hyperactivity OMIM:617302
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Mastocytosis
Acute leukemia, Chronic leukemia, Mastocytosis, Splenomegaly ORPHA:98292
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Gran... OMIM:618935
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin ORPHA:542592
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Gait disturbance, Retinal degeneration, Ataxia, Low frust... ORPHA:168491
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Splenomegaly, Cholecy... OMIM:613470
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia ORPHA:2135
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Emotional lability, Unsteady gait, Impulsivity, Hyperactivity... ORPHA:35069
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Attention defic... ORPHA:1929
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Smith-Magenis Syndrome
Head-banging, Self-mutilation, Retinal detachment, Hyperactivity OMIM:182290
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Depression, Apathy, Retinal cotton wool spot, Irritability, Abnormal retinal vascular morphology,... ORPHA:247691
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Gait disturbance, Inappropriate sexual behavior, Hyperactivit... ORPHA:43
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor OMIM:614104
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, A... ORPHA:449291
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Osteomyelitis, Eczematoid dermatitis, Lymphadenitis, Impaired oxidative burs... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent pneumonia, Osteomyelitis, Eczematoid dermatitis, Lymphadenitis, Impaired oxidative burs... OMIM:233710
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Hyp... OMIM:103050
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent pneumonia, Osteomyelitis, Eczematoid dermatitis, Lymphadenitis, Impaired oxidative burs... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Osteomyelitis, Eczematoid dermatitis, Lymphadenitis, Impaired oxidative burs... OMIM:306400
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivity, Conspicuously h... OMIM:123450
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Pigmentary retinopathy, Depression, Akinesia, Gait disturbance, Blepharospasm, Retinal ... OMIM:234200
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Myoclonic-Astatic Epilepsy
Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperac... ORPHA:1942
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Hyperactivity OMIM:601853
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
47,Xyy Syndrome
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder, Congenital stationary night... ORPHA:8
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Gait ataxia, Aggressive behavior, Mood swings OMIM:300354
Joubert Syndrome 1
Self-mutilation, Chorioretinal coloboma, Aggressive behavior, Ataxia, Retinal dystrophy, Retinal ... OMIM:213300
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:600430
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Ataxia, Hyperactivity OMIM:610042
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Recurrent b... OMIM:214500
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Inappropriate laughter, Low frustration tolerance, Optic nerve hypoplasia, Hyper... ORPHA:363686
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Aggressive behavior, Ataxia, Hyperactivity OMIM:618430
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Angelman Syndrome
Inability to walk, Inappropriate laughter, Aggressive behavior, Broad-based gait, Self-injurious ... ORPHA:72
Lamb-Shaffer Syndrome
Optic atrophy, Ataxia, Hyperactivity ORPHA:530983
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Gait ataxia, Ataxia, Hyperactivity ORPHA:363400
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:485405
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Hyperactivity OMIM:252920
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Pneumonia, Lymphocytic interstitial pneumonia, Sinusitis, Abnormalit... ORPHA:2968
Glass Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor OMIM:612313
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity ORPHA:412035
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low frustration tolerance, Aggressive behavior, Emotional lability OMIM:309520
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Hyperactivity, Emotional lability OMIM:256800
19P13.3 Microduplication Syndrome
Self-injurious behavior, Irritability, Hyperactivity ORPHA:447980
Angelman Syndrome
Progressive gait ataxia, Paroxysmal bursts of laughter, Broad-based gait, Hyperactivity OMIM:105830
Mucopolysaccharidosis, Type Iiic
Rod-cone dystrophy, Hyperactivity OMIM:252930
Choreoacanthocytosis
Hair-pulling, Aggressive behavior, Depression, Apathy, Self-injurious behavior, Blepharospasm, Se... ORPHA:2388
Pediatric-Onset Graves Disease
Hyperactivity, Irritability, Mood swings ORPHA:525731
Citrullinemia Type Ii
Lethargy, Irritability, Aggressive behavior, Hyperactivity ORPHA:247585
White-Sutton Syndrome
Aggressive behavior, Self-injurious behavior, Hyperactivity, Optic atrophy, Rod-cone dystrophy ORPHA:468678
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Aggressive behavior, Depression, Self-injurious behavior, Retinal h... ORPHA:805
Mucopolysaccharidosis Type 3
Disinhibition, Aggressive behavior, Pigmentary retinopathy, Hypersexuality, Gait disturbance, Ret... ORPHA:581
Argininemia
Spastic gait, Irritability, Hyperactivity OMIM:207800
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
X-Linked Intellectual Disability, Cabezas Type
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:85293
7Q11.23 Microduplication Syndrome
Aggressive behavior, Self-injurious behavior, Unsteady gait, Anxiety, Dysmetria, Abnormality of t... ORPHA:96121
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Aggressive behavior, Abnormal foveal morphology, Papilledema... ORPHA:580
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
Stankiewicz-Isidor Syndrome
Hyperactivity, Abnormality of the optic disc OMIM:617516
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Wiedemann-Steiner Syndrome
Anxiety, Low frustration tolerance, Aggressive behavior, Hyperactivity ORPHA:319182
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Anxiety, Optic disc pallor, Hyperactivity ORPHA:464306
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotional lability, Panic attack, Impu... ORPHA:353281
Histidinemia
Hyperactivity ORPHA:2157
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Hyperactivity ORPHA:447997
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Abnormal emotion/affect behavior, Difficulty walking, Nail-biting, Impulsivity, ... ORPHA:642
Early Infantile Epileptic Encephalopathy
Hyperactivity, Self-injurious behavior, Episodic ataxia, Dystonia ORPHA:1934
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424

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 Milr1

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 Milr1.

No publications found that use IMPC mice or data for Milr1.

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MGI Allele Allele Type Produced
Milr1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Milr1tm33716(L1L2_st1) Targeting vectors
Milr1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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