Gene Summary

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

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
small spleen M6prem1(IMPC)Mbp HOM Early adult 0.00
eye hemorrhage M6prem1(IMPC)Mbp HOM Early adult 4.19×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

36 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Essential Fructosuria
Abnormal enzyme/coenzyme activity, Abnormal erythrocyte enzyme level, Abnormal urine carbohydrate... ORPHA:2056
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism, Purpura OMIM:612304
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Marburg Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Subconjunctival hemorrhage, Thrombocytopenia, Jau... ORPHA:99826
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Subconjunctival hemorrhage, Pancreatic cysts, Abnormal ly... ORPHA:464329
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Retinal Venous Beading
Retinal neovascularization, Vitreous hemorrhage, Neutropenia OMIM:180080
Rotor Syndrome
Bilirubinuria, Jaundice, Intermittent jaundice, Abnormal enzyme/coenzyme activity, Porphyrinuria ORPHA:3111
Idiopathic Aplastic Anemia
Ecchymosis, Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Bone marro... ORPHA:88
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization OMIM:193235
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp... ORPHA:340
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder ORPHA:158000
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Intracranial hemorrhage, Muscle hemorrhage, Hematochezi... ORPHA:464321
Exudative Vitreoretinopathy 1
Retinal neovascularization, Vitreous hemorrhage OMIM:133780
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Pericarditis, Hypotension, Subconjunctival hemorrhage, Thromboc... ORPHA:509
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Vitreoretinochoroidopathy
Retinal neovascularization, Vitreous hemorrhage OMIM:193220
Refractory Anemia With Excess Blasts
Palpitations, Abnormal bleeding, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Bone mar... ORPHA:86839
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Retinoblastoma
Vitreous hemorrhage, Hyphema, Leukemia, Subretinal pigment epithelium hemorrhage ORPHA:790
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Restrictive cardiomyopathy, Impaired lymphocyte transformation with phytohemag... OMIM:619313
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Abnormality of neutrophils, Epistaxis, Lymphadenopathy, Hep... ORPHA:33226
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmia OMIM:611773
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Restrictive cardiomyopat... OMIM:264800
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Micronodular cirrhosis, Punctate vasculitis skin lesions, Vasculitis in the skin, Retinal hemorrh... OMIM:192315
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Retinoblastoma
Vitreous hemorrhage, Leukemia OMIM:180200
Mirage Syndrome
Intracranial hemorrhage, Lymphopenia, Thrombocytopenia, Petechiae, Anemia, Leukopenia, Hypoplasti... OMIM:617053
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Gastrointestinal hemorrhage OMIM:177850
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Retinal neovascularization ORPHA:411527
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopathy, Bruising susceptibility... ORPHA:758
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage OMIM:615368
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Retinal hemorrhage, Granulomatosis OMIM:608710
Pearson Syndrome
Cardiac conduction abnormality, Exocrine pancreatic insufficiency, Reticulocytosis, Hepatic steat... ORPHA:699
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hyphema, Aortic valve stenosis, Asplenia, Pulmonic stenosis ORPHA:261552
Microphthalmia, Syndromic 9
Pulmonic stenosis, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Incontinentia Pigmenti
Telangiectasia of the skin, Congestive heart failure, Cerebral ischemia, Pulmonary arterial hyper... ORPHA:464
Cockayne Syndrome Type 3
Subdural hemorrhage, Hepatomegaly, Increased blood pressure, Splenomegaly, Retinal hemorrhage, Ca... ORPHA:90324
Incontinentia Pigmenti
Leukocytosis, Retinal hemorrhage, Eosinophilia OMIM:308300
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Reduced hematocrit, Normochromic anemia, Normocytic anemia ORPHA:91500
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Cockayne Syndrome
Hepatomegaly, Retinal hemorrhage, Hypertension, Splenomegaly ORPHA:191
Trichinellosis
Retinal hemorrhage ORPHA:863
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypertension, Hepatic calcification, Pancreatic calcificat... ORPHA:51608

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.

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

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