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Gene: M6pr MGI:96904

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Gene Summary

Name:
mannose-6-phosphate receptor, cation dependent
Synonyms:
CD-MPR,  Mpr46

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased thigmotaxis M6prem1(IMPC)Mbp HOM Early adult 3.48×10-25
small spleen M6prem1(IMPC)Mbp HOM Early adult 0.00
decreased anxiety-related response M6prem1(IMPC)Mbp HOM Early adult 4.07×10-29
decreased locomotor activity M6prem1(IMPC)Mbp HOM Early adult 4.07×10-06
eye hemorrhage M6prem1(IMPC)Mbp HOM Early adult 5.76×10-05
abnormal behavior M6prem1(IMPC)Mbp HOM Early adult 3.55×10-25

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Whole Body Dorso Ventral

40 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by M6pr 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 M6pr by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Lymphangioma, Thrombocytopenia, Pancreatic cys... ORPHA:464329
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, C... ORPHA:3077
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecc... ORPHA:99827
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage, Gait disturbance ORPHA:88619
Lujo Hemorrhagic Fever
Shock, Excessive bleeding after a venipuncture, Myocarditis, Fulminant hepatitis, Leukocytosis, S... ORPHA:319213
Marburg Hemorrhagic Fever
Anorexia, Leukopenia, Lethargy, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal ble... ORPHA:99826
Adenine Phosphoribosyltransferase Deficiency
Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra... ORPHA:976
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Lymphadenopathy, Hematochez... OMIM:617718
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Capillary leak, Intra... ORPHA:340
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization OMIM:193235
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... ORPHA:464321
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... ORPHA:88
Leptospirosis
Hepatomegaly, Pericarditis, First degree atrioventricular block, Anorexia, Jaundice, Retinal hemo... ORPHA:509
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... OMIM:185070
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Ataxia, Epistaxis, Anorexia, Abnorm... ORPHA:33226
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Eales Disease
Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,... ORPHA:40923
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder ORPHA:158000
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Dysphagia ORPHA:89844
Atelis Syndrome 2
Thrombocytopenia, Dysmetria, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenos... OMIM:620185
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit... ORPHA:100924
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization ORPHA:891
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Retinoblastoma
Vitreous hemorrhage, Leukemia, Hyphema, Subretinal pigment epithelium hemorrhage ORPHA:790
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke OMIM:611773
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Micronodular cirrhosis, Punctate vasculitis skin... OMIM:192315
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Mirage Syndrome
Petechiae, Thrombocytopenia, Intracranial hemorrhage, Leukopenia, Hypoplastic spleen, Lymphopenia... OMIM:617053
Glutaryl-Coa Dehydrogenase Deficiency
Ataxia, Subdural hemorrhage, Retinal hemorrhage, Athetosis, Dysphagia ORPHA:25
Rift Valley Fever
Abnormal bleeding, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorrhage, Hepatit... ORPHA:319251
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Pearson Syndrome
Reticulocytosis, Hepatomegaly, Pancytopenia, Ataxia, Pancreatic fibrosis, Cardiac conduction abno... ORPHA:699
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage OMIM:177850
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis ORPHA:209959
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Trichinellosis
Irritability, Retinal hemorrhage, Lethargy, Dysphagia ORPHA:863
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Retinal neovascularization ORPHA:411527
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Asplenia, Inability to walk, Hyphema, Bruxism, Pulmonic stenosis, Dysphagia, Ao... ORPHA:261552
Incontinentia Pigmenti
Telangiectasia of the skin, Eosinophilia, Congestive heart failure, Retinal hemorrhage, Cerebral ... ORPHA:464
Retinoblastoma
Vitreous hemorrhage, Leukemia OMIM:180200
Granulomatosis With Polyangiitis
Retinal hemorrhage, Granulomatosis, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage OMIM:608710
Familial Drusen
Macular hemorrhage ORPHA:75376
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen, Pulmonic stenosis OMIM:601186
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Anorexia, Vitreous hemorrhage, Normochromic anemia, Reduced hematocrit ORPHA:91500
Cockayne Syndrome Type 3
Hepatomegaly, Splenomegaly, Unsteady gait, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopath... ORPHA:90324
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Cockayne Syndrome
Hepatomegaly, Ataxia, Inability to walk, Splenomegaly, Retinal hemorrhage, Hypertension, Progress... ORPHA:191
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Incontinentia Pigmenti
Eosinophilia, Leukocytosis, Retinal hemorrhage OMIM:308300
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Cardiac conduction abnormality, Abnormal fear-in... ORPHA:353281
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Retinal hemorrhage, Hepatic calcification, Irritability, Hypertension,... ORPHA:51608
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Cardiac conduction abnormality, Abnormal fear-in... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Cardiac conduction abnormality, Abnormal fear-in... ORPHA:353277
Pierson Syndrome
Hypertension, Retinal hemorrhage OMIM:609049
Sympathetic Ophthalmia
Retinal hemorrhage ORPHA:79098
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Cerebral hemorrhage, Retinal hemorrhage, Ischemic stroke, Corneal neovasculariz... OMIM:175780

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 M6pr

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 M6pr.

No publications found that use IMPC mice or data for M6pr.

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
M6prtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
M6prem1(IMPC)Mbp Exon Deletion Mice, Tissue
M6prtm42403(L1L2_st2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
M6prtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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