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Gene: Mast2 MGI:894676

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Gene Summary

Name:
microtubule associated serine/threonine kinase 2
Synonyms:
MAST205,  Mtssk

Order Alleles

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 content Mast2tm1a(KOMP)Wtsi HOM   Early adult 2.76×10-05
increased bone mineral density Mast2tm1a(KOMP)Wtsi HOM Early adult 9.09×10-05

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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 Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Forepaw

14 Images

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DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

13 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Mast2tm1a(KOMP)Wtsi
HOM, Male, WTSI
Mast2tm1a(KOMP)Wtsi
HOM, Male, WTSI
Mast2tm1a(KOMP)Wtsi
HOM, Male, WTSI
Mast2tm1a(KOMP)Wtsi
HOM, Female, WTSI
Mast2tm1a(KOMP)Wtsi
HOM, Female, WTSI

View all 67 images

Human diseases caused by Mast2 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 Mast2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
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
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Osteoporosis
Osteoporosis OMIM:166710
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Melorheostosis
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... ORPHA:2485
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... OMIM:144750
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, Abnormality of bone min... ORPHA:210110
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
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
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Osteosclerosis of the base of the skull OMIM:609993
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... ORPHA:90650
Osteopetrosis, Autosomal Recessive 1
Pathologic fracture, Osteomyelitis, Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Cran... OMIM:259700
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Recurrent fractures, Increased b... ORPHA:1782
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Generalized osteosclerosis, Arthritis, Osteoarthritis, R... ORPHA:53
Osteogenesis Imperfecta, Type Xiii
Recurrent fractures, Joint hypermobility, Limitation of knee mobility, Osteoporosis, Reduced bone... OMIM:614856
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Osteopetrosis, Decreased osteoclas... OMIM:259710
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased bone mineral density OMIM:616943
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... ORPHA:93284
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Diastrophic Dysplasia
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger ORPHA:628
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification ORPHA:163649
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis ORPHA:94089
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Majeed Syndrome
Osteomyelitis, Increased susceptibility to fractures, Synovitis, Increased bone mineral density, ... ORPHA:77297
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Ankylosis, Osteoporosis, Recurrent fractures OMIM:239000
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... ORPHA:2780
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Increased bone mineral density, Sclerosis of skull ba... OMIM:131300
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... OMIM:224300
Pycnodysostosis
Coronal craniosynostosis, Increased susceptibility to fractures, Joint hypermobility, Generalized... ORPHA:763
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis OMIM:259730
Werner Syndrome
Osteoporosis, Joint stiffness, Increased bone mineral density ORPHA:902
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Craniofacial osteosclerosis, Increased skull ossification, Diaphyseal sclerosis OMIM:618476
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Osteopetrosis, Cranial hyperostosis, Decreased osteoclast count OMIM:259720
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... ORPHA:2658
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Generalized osteosclerosis, Arthritis, Enthesitis, Cranios... ORPHA:89936
Poems Syndrome
Sclerosis of foot bone, Sclerosis of skull base, Sclerosis of hand bone ORPHA:2905
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Camptodactyly of finger, Carpal synostosis, Increased bone mineral de... ORPHA:90652
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density OMIM:127000
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Trichothiodystrophy
Osteopenia, Craniosynostosis, Multiple joint contractures, Increased bone mineral density ORPHA:33364
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Joint stiffness, Hip contracture, Wrist flexion contracture, Osteop... ORPHA:800
Raine Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation OMIM:259775
Erdheim-Chester Disease
Increased bone mineral density, Osteolysis, Osteomyelitis ORPHA:35687
Gaucher Disease Type 3
Increased bone mineral density, Increased susceptibility to fractures, Osteolysis ORPHA:77261
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density OMIM:620558
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Desmosterolosis
Joint contracture of the hand, Generalized osteosclerosis, Arthrogryposis multiplex congenita OMIM:602398
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Ectopic ossification, Reduced bone mineral density, Hyperostosis ... ORPHA:79443
Gaucher Disease
Osteopenia, Osteolysis, Pathologic fracture, Osteomyelitis, Joint stiffness, Osteoarthritis, Incr... ORPHA:355
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Ectopic ossification ORPHA:79444
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Atypical Werner Syndrome
Limitation of joint mobility, Sclerosis of hand bone, Osteolytic defects of the phalanges of the ... ORPHA:79474
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Sclerosteosis 1
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... OMIM:269500
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Osteopetrosis, Reduced bone mineral density, Recurrent fractures ORPHA:667
Williams Syndrome
Synostosis of joints, Osteopenia, Joint stiffness, Joint hypermobility, Radioulnar synostosis, Os... ORPHA:904
Schinzel-Giedion Midface Retraction Syndrome
Thickened cortex of long bones, Sclerosis of skull base, Increased density 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 Mast2

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 Mast2.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Mast2tm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Mast2tm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Mast2tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Mast2tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Mast2tm1a(KOMP)Wtsi