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Gene: Mast1 MGI:1861901

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Gene Summary

Name:
microtubule associated serine/threonine kinase 1
Synonyms:
SAST170,  9430008B02Rik,  SAST

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
decreased heart weight Mast1em1(IMPC)Marc HOM Early adult 9.39×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

Phenotype associated images not available

Human diseases caused by Mast1 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.

The table below shows human diseases associated to Mast1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pattern, Thick corpus callos... OMIM:618273

The table below shows human diseases predicted to be associated to Mast1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Partial agenesis of the cor... OMIM:604213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Microlissencephaly
Subcortical heterotopia, Cerebral cortical atrophy, Periventricular heterotopia, Simplified gyral... ORPHA:1083
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Primary microcephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:171703
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar hypoplasia, Polymicrogyria, Lissencephaly, Partial agenesis of the corpus callosum, Mi... OMIM:610031
Lissencephaly 4
Primary microcephaly, Simplified gyral pattern, Cerebellar hypoplasia, Lissencephaly, Agenesis of... OMIM:614019
Lissencephaly 3
Gray matter heterotopia, Agyria, Cerebellar vermis hypoplasia, Lissencephaly, Microcephaly, Pachy... OMIM:611603
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Focal polymicrogyria, Primary microcephaly, Thin corpus callosum, Dysge... OMIM:615771
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Abnormal caudate nucleus morphology, Lateral... ORPHA:300573
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Cortical dy... OMIM:608716
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Hypoplasia of the pons, Dysplastic corpus callosum, Microcephaly OMIM:618276
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Perisylvian polymicrogyria, Agyria, Dysgenesis of the basal ganglia, Ce... ORPHA:171680
Joubert Syndrome 23
Cerebellar dysplasia, Dysplastic corpus callosum OMIM:616490
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Abnormal cortical gyration, Polymicrogyria OMIM:619602
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... ORPHA:500166
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Lissencephaly, Microcephaly, Cerebellar atrophy, Dysplastic corpus callosum, Agenesis of corpus c... OMIM:614833
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Absent septum pellucidum, Agenesis of corp... OMIM:218670
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:250972
Mucolipidosis Iv
Cerebellar atrophy, Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination OMIM:252650
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Periventricular heterotopia, Cerebellar hypoplasia, Periventricular leukom... ORPHA:255138
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the ventral pons, Abnormal cortical gyration, Cerebellar hypoplasia, Cerebellar cys... ORPHA:2524
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Cerebellar hypoplasia, Periventricular leukomal... OMIM:616900
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Neonatal death OMIM:601612
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Simplified gyral pattern, Dysplastic corpus callosum, Microcephaly, Cerebellar vermis hypoplasia OMIM:620001
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Primary microcephaly, Abnormal cerebellar vermis morphology, Cerebellar... ORPHA:357058
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Partial agenesis of the corpus callosum, Microcephaly, Cerebellar atrophy, ... OMIM:619103
Combined Oxidative Phosphorylation Deficiency 54
Secondary microcephaly, Dysplastic corpus callosum, Periventricular nodular heterotopia, Perivent... OMIM:619737
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum OMIM:601016
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Agenesis of corpus callosum, Colpocephaly OMIM:619955
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Cerebellar hypoplasia OMIM:618810
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pattern, Thick corpus callos... OMIM:618273
Kapur-Toriello Syndrome
Patent ductus arteriosus, Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Microcephaly, Hypoplasia of the corpus callosum, Dysplastic corpus callo... ORPHA:314679
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Lateral ventricle dilatation, Multifocal cerebral white matter abnorma... ORPHA:488627
Microcephaly 26, Primary, Autosomal Dominant
Simplified gyral pattern, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Dysplastic... OMIM:619179
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Periventricular cysts, Lateral ventricle dilatation, Hyperintensity of cerebral white matter on M... ORPHA:544488
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Dysplastic corpus callosum OMIM:619423
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Chiari malformation, Colpocephaly, Secondary microcephaly, Absent septum... OMIM:618820
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Leukoencephalopathy, Dysplastic c... OMIM:614924
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Dysplastic corpus callosum ORPHA:363444
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly OMIM:618569
Zttk Syndrome
Patent ductus arteriosus, Cerebellar hypoplasia, Periventricular leukomalacia, Abnormal cerebral ... OMIM:617140
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent ductus arteriosus, Thick corpus callosum, Dysplastic corpus callosum, Cerebellar hypoplasia OMIM:300967
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cerebellar hemisphere hypoplasia, Patent ductus arteriosus after birth at term, Chiari malformati... ORPHA:500150
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Patent ductus arteriosus, Cerebellar hypoplasia, Chiari type I malformation, Hypoplasia of the co... ORPHA:466791
Lenz-Majewski Hyperostotic Dwarfism
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly, Dysplastic corpus callosum OMIM:151050
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Witteveen-Kolk Syndrome
Bilateral polymicrogyria, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Dy... OMIM:613406

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 Mast1

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 Mast1.

No publications found that use IMPC mice or data for Mast1.

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MGI Allele Allele Type Produced
Mast1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mast1em1(IMPC)Marc Deletion Mice
Mast1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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