Gene Summary

Name:
RAB15 effector protein
Synonyms:
2210417D09Rik

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 total body fat amount Rep15em1(IMPC)Tcp HOM Early adult 2.39×10-06
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

Download data as:  TSV  XLS

Select physiological systems to view:
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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

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

Histopathology

Images

2 Images

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
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture, Connective tissue nevi OMIM:166700
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
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
Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas ORPHA:1879
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Craniodiaphyseal Dysplasia
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:218300
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Melorheostosis
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Atypical scarring of skin, Increa... ORPHA:2485
Isolated Osteopoikilosis
Keloids, Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal... ORPHA:166119
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Osteoporosis
Osteoporosis OMIM:166710
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Generalized osteosclerosis, Osteopetrosis, Fractures of the long bones, Mandi... OMIM:166600
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Osteosclerosis of the base of th... ORPHA:210110
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Gnathodiaphyseal Dysplasia
Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteopenia OMIM:166260
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density OMIM:231095
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, C... ORPHA:1306
Osteogenesis Imperfecta, Type Xiii
Joint hypermobility, Osteoporosis, Increased bone mineral density, Umbilical hernia OMIM:614856
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Dysosteosclerosis
Abnormal dental enamel morphology, Coarse metaphyseal trabecularization, Craniofacial hyperostosi... ORPHA:1782
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Osteoporosis, Increased bone mineral density, Recurrent fractures, Macular scar OMIM:239000
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Enamel hypomineralization, Increased bone mineral density ORPHA:3352
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Pathologic fracture, Osteomyelitis, In... OMIM:259700
Diastrophic Dysplasia
Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger ORPHA:628
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Recurrent fractur... ORPHA:53
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Abnormal epiphyseal ossification, Knee osteoarthritis, Premature osteoarthrit... ORPHA:93284
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... ORPHA:85188
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Osteopetrosis, Autosomal Recessive 2
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Mandibular osteomyelitis, Cranial hyperostosi... OMIM:259710
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Enamel hypoplasia, Di... ORPHA:94089
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Reduced subcutaneous adipose tissue, Diaphyseal scler... OMIM:131300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Pathologic fra... OMIM:112250
Majeed Syndrome
Synovitis, Increased susceptibility to fractures, Osteomyelitis, Increased bone mineral density, ... ORPHA:77297
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecular... ORPHA:2780
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Gaucher Disease Type 1
Pathologic fracture, Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis ORPHA:77259
Werner Syndrome
Chondrocalcinosis, Lipodystrophy, Osteoporosis, Lipoatrophy, Increased bone mineral density, Join... ORPHA:902
Dysosteosclerosis
Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Cl... OMIM:224300
Pycnodysostosis
Generalized osteosclerosis, Increased susceptibility to fractures, Osteolytic defects of the dist... ORPHA:763
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Poems Syndrome
Sclerosis of skull base, Lipodystrophy, Sclerosis of foot bone, Sclerosis of hand bone ORPHA:2905
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Abnormal dental enamel morphology, Increased bone mineral... ORPHA:1798
X-Linked Hypophosphatemia
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... ORPHA:89936
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Osteopetrosis, Abnormal dental enamel morphology, Abnormal cortical bone morphol... ORPHA:2658
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Trichothiodystrophy
Absence of subcutaneous fat, Craniosynostosis, Osteopenia, Enamel hypoplasia, Increased bone mine... ORPHA:33364
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Omphalocele, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... ORPHA:90652
Desmosterolosis
Osteopetrosis, Increased bone mineral density ORPHA:35107
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Flexion contracture of toe, Hip contracture, Osteoporosis, Arthrogr... ORPHA:800
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Increased bone mineral density OMIM:259775
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Gaucher Disease
Arthrogryposis multiplex congenita, Abnormal bone structure, Osteopenia, Osteomyelitis, Increased... ORPHA:355
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Reduced bone mineral density, Hyperostosis frontalis interna, Enamel hypopl... ORPHA:79443
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Gaucher Disease Type 3
Increased susceptibility to fractures, Increased bone mineral density, Osteolysis ORPHA:77261
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Increased bone mineral density, Ectopic ossification ORPHA:79444
Erdheim-Chester Disease
Osteomyelitis, Increased bone mineral density, Osteolysis ORPHA:35687
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Abnormal dental enamel morphology ORPHA:2323
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis OMIM:259720
Atypical Werner Syndrome
Chondrocalcinosis, Osteoporosis, Generalized lipodystrophy, Sclerosis of hand bone, Reduced bone ... ORPHA:79474
Cleidocranial Dysplasia
Increased susceptibility to fractures, Enamel hypoplasia, Delayed pubic bone ossification, Increa... OMIM:119600
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Cortically dense long tubular... OMIM:269500
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Williams Syndrome
Joint laxity, Osteoporosis, Abnormal dental enamel morphology, Inguinal hernia, Osteopenia, Synos... ORPHA:904
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Osteopetrosis, Craniosynostosis, Reduced bone mineral density ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis ORPHA:2785
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Thickened cortex of long bones, Increased density of long bones OMIM:269150

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.

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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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