Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
matrix extracellular phosphoglycoprotein with ASARM motif (bone)
Synonyms:
OF45

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Mepe 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 Mepe by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hypophosphatemic Bone Disease
Osteomalacia, Rickets OMIM:146350
Hypophosphatasia, Adult
Rickets, Increased susceptibility to fractures, Osteomalacia, Pathologic fracture, Recurrent frac... OMIM:146300
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Hypophosphatemic rickets, Rickets OMIM:193100
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, Sp... OMIM:600785
Hypercholanemia, Familial 1
Rickets OMIM:607748
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Renal Tubular Acidosis Iii
Osteomalacia, Rickets OMIM:267200
Eiken Syndrome
Abnormal trabecular bone morphology, Abnormal bone ossification, Thin bony cortex, Delayed epiphy... ORPHA:79106
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets OMIM:613388
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Osteomalacia, Tooth abscess, Rickets ORPHA:89937
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia OMIM:611590
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... OMIM:300554
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:600081
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Abnormal bone structure, Coarse metaphyseal trabecularization, Recurrent fractures, Os... ORPHA:93160
Fanconi Renotubular Syndrome 1
Osteomalacia, Rickets OMIM:134600
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density ORPHA:157215
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:241530
Cholestasis, Progressive Familial Intrahepatic, 1
Splenomegaly, Osteopenia, Rickets OMIM:211600
Dent Disease 1
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... OMIM:300009
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:264700
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:277440
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Rickets, Increased susceptibility to fractures, Delayed epiphyseal ossification... ORPHA:289157
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteoporosis, Osteopenia, Joint stiffness, Osteomalacia, Joint hyperflexibility ORPHA:1901
Infantile Systemic Hyalinosis
Increased susceptibility to fractures, Osteoporosis, Osteopenia, Recurrent fractures, Camptodacty... ORPHA:2176
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Hypophosphatemic rickets OMIM:307800
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Rickets OMIM:607765
Wilson Disease
Osteoarthritis, Osteoporosis, Joint hypermobility, Osteomalacia, Hemolytic anemia OMIM:277900
Fibrous Dysplasia Of Bone
Thin bony cortex, Fibrous dysplasia of the bones, Rickets, Abnormal bone structure, Patchy reduct... ORPHA:249
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Osteomalacia, Osteoporosis, Rickets ORPHA:309031
Fanconi-Bickel Syndrome
Osteomalacia OMIM:227810
Cystinosis
Rickets ORPHA:213
X-Linked Hypophosphatemia
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... ORPHA:89936
Dent Disease
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... ORPHA:1652
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Rickets ORPHA:79303
Hypophosphatemic Rickets
Fibrous dysplasia of the bones, Rickets, Hyperostosis, Patchy variation in bone mineral density, ... ORPHA:437
Mccune-Albright Syndrome
Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Aneurysmal bone cyst, Monostotic f... ORPHA:562
Fanconi-Bickel Syndrome
Osteopenia, Rickets ORPHA:2088
Neu-Laxova Syndrome
Rickets, Osteoporosis, Arthrogryposis multiplex congenita, Osteopenia, Flexion contracture, Osteo... ORPHA:2671
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Rickets, Iron deficiency anemia, Osteoporosis OMIM:212750
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Reduced bone mineral density ORPHA:2909
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Distal Renal Tubular Acidosis
Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Osteomalacia, Hemol... ORPHA:18
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia ORPHA:221016
Occipital Horn Syndrome
Rickets, Osteoporosis, Osteopenia, Synostosis of joints, Osteomalacia, Joint hyperflexibility, Os... ORPHA:198
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Rickets, Anemia, Reduced bone mineral density, Osteopenia, Pancytopenia, Joint ... OMIM:613658
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Primary Fanconi Renotubular Syndrome
Increased susceptibility to fractures, Osteomalacia, Hypophosphatemic rickets ORPHA:3337
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Lowe Oculocerebrorenal Syndrome
Rickets, Joint contracture of the hand, Pathologic fracture, Joint hypermobility, Camptodactyly o... OMIM:309000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Rickets, Osteoporosis, Osteopenia, Osteomalacia, Abnormally ossified vertebrae ORPHA:2636
Cystinosis, Nephropathic
Splenomegaly, Hypophosphatemic rickets, Rickets OMIM:219800
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Anemia, Arthritis, Splenomegaly, Osteom... OMIM:619381
Oculocerebrorenal Syndrome Of Lowe
Anemia, Arthritis, Recurrent fractures, Joint stiffness, Thrombocytopenia, Osteomalacia, Joint hy... ORPHA:534
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Osteomalacia, Hypophosphatemic rickets, Fused cervica... 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 Mepe

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 Mepe.

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

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MGI Allele Allele Type Produced
Mepetm372160(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mepetm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mepetm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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