Gene Summary

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

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 5.80×10-07
abnormal behavior Milr1tm1b(EUCOMM)Hmgu HOM Early adult 7.78×10-06
decreased thigmotaxis Milr1tm1b(EUCOMM)Hmgu HOM Early adult 7.78×10-06
hyperactivity Milr1tm1b(EUCOMM)Hmgu HOM Early adult 6.72×10-07
abnormal retina morphology Milr1tm1b(EUCOMM)Hmgu HOM Early adult 9.46×10-06
abnormal retina blood vessel morphology Milr1tm1b(EUCOMM)Hmgu HOM Early adult 1.60×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.0%
aorta 0.0%
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%
esophagus 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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
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%
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.

Adult LacZ

LacZ Images Wholemount

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior ORPHA:75858
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Mastocytosis, Splenomegaly, Abnormal mast ce... ORPHA:98848
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior OMIM:605899
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:619470
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability OMIM:234500
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Cutaneous mastocytosis ORPHA:280785
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Aggressive behavior OMIM:300983
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Hyperprolinemia, Type I
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Mast Cell Sarcoma
Splenomegaly, Mastocytosis ORPHA:66661
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Phenylketonuria
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... OMIM:261600
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Maculopapular exanthema, Pancytopenia, Leukocyt... ORPHA:98850
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei OMIM:260570
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:615541
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Vitreoretinochoroidopathy
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... OMIM:193220
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal bursts of laughter OMIM:618718
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... OMIM:618986
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cherry red spot of the macula ORPHA:309246
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hyperactivity, Aggressive behavior ORPHA:369939
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Graves Disease
Hyperactivity, Irritability, Polyphagia OMIM:275000
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Motor... ORPHA:449291
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Porphyria Due To Ala Dehydratase Deficiency
Depression, Agitation, Abnormal fear-induced behavior, Restlessness ORPHA:100924
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Irritability, Retinal neovascularization, Depression, Retinal cotton wool spot, Abnormal retinal ... ORPHA:247691
Norrie Disease
Optic atrophy, Retinal dysplasia, Retinal detachment, Retinal fold, Aggressive behavior OMIM:310600
Chédiak-Higashi Syndrome
Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura... ORPHA:167
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Emotional lability, Hyperactivity, Impulsivity, Dysphagia OMIM:610217
Histidinemia
Hyperactivity ORPHA:2157
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Obsessive-compulsive trait, Hyperactivity, Depression, Phonic tics, Dysphagia, Mot... OMIM:234200
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... ORPHA:2968
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353277

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
Milr1tm33716(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Milr1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Milr1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Milr1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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