Gene Summary

Name:
MAU2 sister chromatid cohesion factor
Synonyms:
A930019L04Rik,  9130404D08Rik

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 body length Mau2tm1b(KOMP)Wtsi HET   Early adult 5.22×10-05
absent pinna reflex Mau2tm1b(KOMP)Wtsi HET Early adult 3.34×10-05
cataract Mau2tm1b(KOMP)Wtsi HET Early adult 3.08×10-06
preweaning lethality, complete penetrance Mau2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal lens morphology Mau2tm1b(KOMP)Wtsi HET Early adult 3.08×10-06
vertebral transformation Mau2tm1b(KOMP)Wtsi HET Early adult 7.17×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

Eye Morphology

Images Slit Lamp

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

DSS Histology

Images

8 Images

Ear epidermis immunophenotyping

Images

9 Images

Legacy Phenotype Associated Images

View all 119 images

View all 14 images

View all 9 images

Human diseases caused by Mau2 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 Mau2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Aniridia 3
Cataract OMIM:617142
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Trichomegaly
Cataract OMIM:190330
Nathalie Syndrome
Cataract ORPHA:2663
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Optic Atrophy 3, Autosomal Dominant
Cataract, Tremor OMIM:165300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
X-Linked Retinoschisis
Cataract ORPHA:792
Galactosemia Iv
Cataract OMIM:618881
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Galactosemia Ii
Cataract OMIM:230200
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Scoliosis, Developmental cataract OMIM:246000
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Absence Deformity Of Leg-Cataract Syndrome
Hyperlordosis, Cataract, Scoliosis ORPHA:2310
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Cataract 47
Cataract, Microcornea OMIM:612018
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Nathalie Syndrome
Cataract OMIM:255990
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hyperlordosis, Kyphosis, Spinal rigidity, Cataract, Scoliosis OMIM:617404
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract, Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Platyspondyly ORPHA:85172
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Kahrizi Syndrome
Thoracic kyphosis, Cataract, Iris coloboma OMIM:612713
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Xeroderma Pigmentosum, Complementation Group G
Cataract, Tremor OMIM:278780
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Aniridia 2
Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Kyphosis ORPHA:1875
Proximal Myotonic Myopathy
Cataract ORPHA:606
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal intervertebral disk morphology, Cataract, Platyspondyly ORPHA:1345
Retinitis Pigmentosa 40
Cataract OMIM:613801
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract OMIM:601547
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Spinal canal stenosis, Developmental cataract, Thoracic kyphoscoliosis, Cataract, Scoliosis, Cerv... ORPHA:436174
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of the cervical spine, Kyphosis, Microcornea, Cataract, Scoliosis, Intention tremor ORPHA:48431
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Nevus Comedonicus Syndrome
Spina bifida occulta, Cataract, Scoliosis, Abnormal vertebral morphology ORPHA:64754
Pellagra-Like Syndrome
Cataract OMIM:260650
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Scoliosis, Microphakia ORPHA:171844
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Autosomal Recessive Spastic Paraplegia Type 26
Cataract, Dystonia, Scoliosis ORPHA:101006
Autosomal Recessive Stickler Syndrome
Astigmatism, Cataract, Irregular vertebral endplates, Platyspondyly ORPHA:250984
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Metatropic Dysplasia
Kyphosis, Abnormal intervertebral disk morphology, Cataract, Hypoplastic cervical vertebrae, Scol... ORPHA:2635
Dystonia, Juvenile-Onset
Oculogyric crisis, Leg dystonia, Cataract, Kyphoscoliosis, Generalized dystonia OMIM:607371
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Cataract 20, Multiple Types
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract OMIM:116100
Congenital Varicella Syndrome
Cataract ORPHA:291
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Cataract 48
Cataract OMIM:618415
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Achondrogenesis Type 2
Unossified sacrum, Delayed vertebral ossification, Absent vertebral body mineralization, Lens sub... ORPHA:93296
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract, Generalized dystonia, Scoliosis, Kyphosis ORPHA:79107
Cataract 39, Multiple Types
Anterior polar cataract, Lamellar cataract, Developmental cataract OMIM:615188
Joubert Syndrome 9
Astigmatism, Cataract, Scoliosis OMIM:612285
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Chondrodysplasia Punctata 1, X-Linked Recessive
Abnormality of the vertebral column, Cataract OMIM:302950
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Cataract 15, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Cataract, Iris coloboma, Buphthalmos OMIM:212550
Norrie Disease
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... OMIM:310600
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... OMIM:221900
Oculoauricular Syndrome
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... OMIM:612109
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... OMIM:106210
Osteoporosis-Pseudoglioma Syndrome
Biconcave vertebral bodies, Severe platyspondyly, Kyphosis, Absent anterior chamber of the eye, C... OMIM:259770
Xeroderma Pigmentosum, Complementation Group D
Conjunctivitis, Keratoconjunctivitis sicca, Choreoathetosis, Corneal neovascularization, Cataract... OMIM:278730
Persistent Hyperplastic Primary Vitreous
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... ORPHA:91495
Autosomal Dominant Optic Atrophy And Cataract
Postural tremor, Resting tremor, Cerulean cataract, Anterior subcapsular cataract, Posterior subc... ORPHA:67036
Chondrodysplasia Punctata, Autosomal Dominant
Cataract, Scoliosis OMIM:118650

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 Mau2

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 Mau2.

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) Mau2tm1b(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Mau2tm1b(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Mau2tm1b(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Mau2tm1b(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Mau2tm1b(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Mau2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Mau2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Mau2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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