Gene Summary

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

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 bone mineral content Mast2tm1a(KOMP)Wtsi HOM   Early adult 2.73×10-05
increased bone mineral density Mast2tm1a(KOMP)Wtsi HOM Early adult 9.09×10-05

Download data as:  TSV  XLS

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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 Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Anti-nuclear antibody assay

Images

13 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

DSS Histology

Images

8 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

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
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteoporosis
Osteoporosis OMIM:166710
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Melorheostosis
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... ORPHA:2485
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis OMIM:166260
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo... ORPHA:90650
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Osteosclerosis of the base of the skull, Subperiosteal bone formation OMIM:609993
Dysosteosclerosis
Recurrent fractures, Coarse metaphyseal trabecularization, Increased bone mineral density, Cranio... ORPHA:1782
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Pathologic fractu... OMIM:259700
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... ORPHA:85188
Albers-Schönberg Osteopetrosis
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Osteoarthritis, Arthritis, Generali... ORPHA:53
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Limited elbow movement... ORPHA:93284
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Diastrophic Dysplasia
Joint stiffness, Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density ORPHA:628
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... OMIM:259710
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Generalized osteoporosis, Osteoporosis OMIM:601220
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Diaphyseal sclerosis, Increased bone mineral density ORPHA:94089
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Increased bone mineral density, Osteopenia, Osteoporosis, Ankylosis OMIM:239000
Majeed Syndrome
Osteomyelitis, Increased bone mineral density, Flexion contracture, Increased susceptibility to f... ORPHA:77297
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Recurrent fractures OMIM:611490
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Gaucher Disease Type 1
Increased bone mineral density, Osteopenia, Osteoarthritis, Pathologic fracture, Osteolysis ORPHA:77259
Dysosteosclerosis
Sclerosis of skull base, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased suscepti... OMIM:224300
Camurati-Engelmann Disease
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sclerosis, Increa... OMIM:131300
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Diaphyseal sclerosis, Cranial hyperostosis OMIM:259730
Pycnodysostosis
Increased bone mineral density, Coronal craniosynostosis, Generalized osteosclerosis, Joint laxit... ORPHA:763
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Werner Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density ORPHA:902
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Cranial hyperostosis, Increased bone mineral density, Decreased osteoclast count OMIM:259720
Desmosterolosis
Osteopetrosis, Increased bone mineral density ORPHA:35107
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
X-Linked Hypophosphatemia
Craniosynostosis, Reduced bone mineral density, Arthritis, Vertebral hyperostosis, Generalized os... ORPHA:89936
Poems Syndrome
Sclerosis of skull base, Sclerosis of hand bone, Sclerosis of foot bone ORPHA:2905
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Elbow ankylosis, Osteopetrosis, Joint hyperflexibility, Abnormal ... ORPHA:2658
Otopalatodigital Syndrome Type 2
Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmentation and fusion, Ca... ORPHA:90652
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Trichothiodystrophy
Multiple joint contractures, Osteopenia, Increased bone mineral density, Craniosynostosis ORPHA:33364
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Schwartz-Jampel Syndrome
Joint stiffness, Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, ... ORPHA:800
Raine Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation OMIM:259775
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Increased bone mineral density, Osteopenia, ... ORPHA:355
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Gaucher Disease Type 3
Osteolysis, Increased bone mineral density, Increased susceptibility to fractures ORPHA:77261
Erdheim-Chester Disease
Osteomyelitis, Osteolysis, Increased bone mineral density ORPHA:35687
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Increased bone mineral density, Hyperostosis frontalis interna, Reduced bon... ORPHA:79443
Desmosterolosis
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita OMIM:602398
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density ORPHA:79444
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Increased bone mineral density, Increased susceptibility to frac... OMIM:119600
Atypical Werner Syndrome
Increased bone mineral density, Reduced bone mineral density, Osteoporosis, Progressive clavicula... ORPHA:79474
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Primary Hyperoxaluria
Recurrent fractures, Generalized osteosclerosis ORPHA:416
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Recurrent fractures, Reduced bone mineral density, Craniosynostosis ORPHA:667
Williams Syndrome
Joint stiffness, Increased bone mineral density, Osteopenia, Osteoporosis, Synostosis of joints, ... ORPHA:904
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Recurrent fractures ORPHA:2785
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Sclerosis of skull base, Thickened cortex 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 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)