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Gene: Rep15 MGI:1913782

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Gene Summary

Name:
RAB15 effector protein
Synonyms:
2210417D09Rik

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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
increased bone mineral density Rep15em1(IMPC)Tcp HOM Early adult 2.84×10-05
increased bone mineral content Rep15em1(IMPC)Tcp HOM Early adult 1.22×10-06
decreased total body fat amount Rep15em1(IMPC)Tcp HOM Early adult 2.05×10-06

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.

Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Human diseases caused by Rep15 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 Rep15 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Melorheostosis With Osteopoikilosis
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Buschke-Ollendorff Syndrome
Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Melorheostosis
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit... ORPHA:2485
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Osteoporosis
Osteoporosis OMIM:166710
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Increased bone mineral density, Recurrent fractures OMIM:611490
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec... ORPHA:1782
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red... OMIM:614856
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Enamel hypomineralization, Dental enamel pits ORPHA:3352
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... OMIM:259700
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... OMIM:131300
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Osteopo... OMIM:239000
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... ORPHA:77297
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Werner Syndrome
Increased bone mineral density, Lipoatrophy, Lipodystrophy, Joint stiffness, Osteoporosis, Chondr... ORPHA:902
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture ORPHA:77259
Pycnodysostosis
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... ORPHA:763
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... ORPHA:1798
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... ORPHA:94089
Poems Syndrome
Sclerosis of hand bone, Sclerosis of skull base, Lipodystrophy, Sclerosis of foot bone ORPHA:2905
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... ORPHA:89936
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... ORPHA:2658
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:618476
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:259730
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis OMIM:259720
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc... ORPHA:33364
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Otopalatodigital Syndrome Type 2
Omphalocele, Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal s... ORPHA:90652
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... ORPHA:800
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Enamel hypoplasia, Subperiost... OMIM:259775
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones OMIM:127000
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... ORPHA:355
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis interna, Ect... ORPHA:79443
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis ORPHA:35687
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density, Enamel hypoplasia ORPHA:79444
Desmosterolosis
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita OMIM:602398
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Lipoatrophy, Limitation of joint mobility... ORPHA:79474
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Patchy osteosclerosis ORPHA:2323
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Enamel hypoplasia, Increased sus... OMIM:119600
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... OMIM:269500
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Inguinal hernia, Abnormal dental enamel... ORPHA:904
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density ORPHA:667
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones OMIM:269150
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Recurrent fractures ORPHA:2785

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 Rep15

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 Rep15.

No publications found that use IMPC mice or data for Rep15.

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
Rep15tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rep15tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Rep15em1(IMPC)Tcp Intra-exon deletion Mice, Tissue

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