Gene Summary

Name:
synaptosomal-associated protein, 47
Synonyms:
SNAP-47,  1110031B06Rik

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
increased lean body mass Snap47tm1a(EUCOMM)Wtsi HOM Early adult 1.21×10-06
increased bone mineral content Snap47tm1a(EUCOMM)Wtsi HOM Early adult 8.23×10-08
increased bone mineral density Snap47tm1a(EUCOMM)Wtsi HOM Early adult 2.87×10-06
decreased total body fat amount Snap47tm1a(EUCOMM)Wtsi HOM Early adult 1.10×10-06
decreased lean body mass Snap47tm1a(EUCOMM)Wtsi HOM Early adult 3.25×10-05

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 Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Legacy Phenotype Associated Images

View all 81 images

Human diseases caused by Snap47 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 Snap47 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Buschke-Ollendorff Syndrome
Flexion contracture, Connective tissue nevi, Joint stiffness, Osteopoikilosis OMIM:166700
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
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
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Melorheostosis
Atypical scarring of skin, Ectopic ossification in muscle tissue, Increased bone mineral density,... ORPHA:2485
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Umbilical hernia, Decreased body weight, Increased bone minera... OMIM:614856
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Buschke-Ollendorff Syndrome
Craniosynostosis, Atypical scarring of skin, Flexion contracture, Connective tissue nevi, General... ORPHA:1306
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis OMIM:215045
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pathologic fracture, Failure to ... OMIM:259700
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Abnormal vertebral segmentation and fus... ORPHA:90650
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Dysosteosclerosis
Abnormal dental enamel morphology, Craniofacial hyperostosis, Recurrent fractures, Increased bone... ORPHA:1782
Majeed Syndrome
Flexion contracture, Synovitis, Weight loss, Increased bone mineral density, Increased susceptibi... ORPHA:77297
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Macular scar, Ankylosis, Recurrent fractures, Increased bone mineral density OMIM:239000
Diastrophic Dwarfism
Camptodactyly of finger, Joint hyperflexibility, Joint stiffness, Increased bone mineral density ORPHA:628
Osteopetrosis With Renal Tubular Acidosis
Reduced bone mineral density, Recurrent fractures, Osteopetrosis, Failure to thrive ORPHA:2785
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Enamel hypomineralization, Increased bone mineral density ORPHA:3352
Albers-Schönberg Osteopetrosis
Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Osteoarthritis, Osteom... ORPHA:53
Camurati-Engelmann Disease
Slender build, Cortical thickening of long bone diaphyses, Increased bone mineral density, Reduce... OMIM:131300
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Osteopetrosis, Cranial hyperostosis, Mandibular osteomyelitis, Osteomyelitis... OMIM:259710
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed patellar ossification, Abnormal bone ossification, Increased bone mineral density ORPHA:163649
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Increased bone density with cystic changes, Diaphyseal sclerosis, Increased bo... ORPHA:94089
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Absent ossification of calvaria, Absent ossific... OMIM:601376
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Enthesitis, Incr... ORPHA:289176
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increased bone mineral ... ORPHA:2780
Werner Syndrome
Osteoporosis, Slender build, Chondrocalcinosis, Lipoatrophy, Lipodystrophy, Increased bone minera... ORPHA:902
Poems Syndrome
Sclerosis of hand bone, Lipodystrophy, Weight loss, Sclerosis of foot bone, Sclerosis of skull base ORPHA:2905
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Gaucher Disease Type 1
Osteolysis, Increased bone mineral density, Pathologic fracture, Osteopenia, Osteoarthritis ORPHA:77259
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Dysosteosclerosis
Sclerosis of hand bone, Clavicular sclerosis, Increased susceptibility to fractures, Sclerotic sc... OMIM:224300
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Omphalocele, Carpal synos... ORPHA:90652
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Massively thickened long bone cortices, Increased bone mineral... ORPHA:1798
X-Linked Hypophosphatemia
Craniosynostosis, Cellulitis, Rickets, Generalized osteosclerosis, Odontodysplasia, Enthesitis, R... ORPHA:89936
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Joint hyperflexibility, Elbow ankylosis, Osteopetrosis, Abnorm... ORPHA:2658
Desmosterolosis
Osteopetrosis, Failure to thrive, Increased bone mineral density ORPHA:35107
Schwartz-Jampel Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Flexion contracture of toe, Decreased body weig... ORPHA:800
Trichothiodystrophy
Enamel hypoplasia, Craniosynostosis, Absence of subcutaneous fat, Umbilical hernia, Increased bon... ORPHA:33364
Kenny-Caffey Syndrome, Type 2
Small for gestational age, Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis ORPHA:94063
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Increased bone mineral density, Reduced bone mineral density, Ectopic ossifica... ORPHA:79443
Pseudohypoparathyroidism Type 1C
Obesity, Ectopic ossification, Enamel hypoplasia, Increased bone mineral density ORPHA:79444
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Increased bone mineral density OMIM:259775
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Desmosterolosis
Joint contracture of the hand, Arthrogryposis multiplex congenita, Generalized osteosclerosis, Fa... OMIM:602398
Erdheim-Chester Disease
Osteolysis, Osteomyelitis, Weight loss, Increased bone mineral density ORPHA:35687
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Gaucher Disease
Osteolysis, Arthrogryposis multiplex congenita, Recurrent fractures, Increased bone mineral densi... ORPHA:355
Atypical Werner Syndrome
Osteoporosis, Sclerosis of hand bone, Chondrocalcinosis, Lipoatrophy, Decreased body weight, Incr... ORPHA:79474
Gaucher Disease Type 3
Osteolysis, Increased susceptibility to fractures, Increased bone mineral density ORPHA:77261
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Patchy osteosclerosis ORPHA:2323
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis OMIM:259720
Cleidocranial Dysplasia
Enamel hypoplasia, Delayed pubic bone ossification, Increased susceptibility to fractures, Increa... OMIM:119600
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Primary Hyperoxaluria
Recurrent fractures, Generalized osteosclerosis, Failure to thrive ORPHA:416
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Williams Syndrome
Osteoporosis, Abnormal dental enamel morphology, Radioulnar synostosis, Joint laxity, Synostosis ... ORPHA:904
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Failure to thrive, Sclerosis of skull base, Thickened cortex of ... OMIM:269150
Autosomal Recessive Malignant Osteopetrosis
Reduced bone mineral density, Craniosynostosis, Recurrent fractures, Osteopetrosis ORPHA:667

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 Snap47

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 Snap47.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Snap47tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Snap47tm1a(EUCOMM)Wtsi PMC6459510

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MGI Allele Allele Type Produced
Snap47tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Snap47tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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