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Gene: Mau2 MGI:1921799

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Gene Summary

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

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

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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood vessel 0.0%
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
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 Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Forepaw

14 Images

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Legacy Phenotype Associated Images
Mau2tm1b(KOMP)Wtsi
HET, Female, WTSI
Mau2tm1b(KOMP)Wtsi
HET, Male, WTSI
Mau2tm1b(KOMP)Wtsi
HET, Male, WTSI
Mau2tm1b(KOMP)Wtsi
HET, Male, WTSI
Mau2tm1b(KOMP)Wtsi
HET, Male, WTSI

View all 119 images

Mau2tm1b(KOMP)Wtsi
cataracts, HET, Male, WTSI
Mau2tm1b(KOMP)Wtsi
cataracts, HET, Male, WTSI
Mau2tm1b(KOMP)Wtsi
cataracts, HET, Male, WTSI
Mau2tm1b(KOMP)Wtsi
iris synechia, HET, Female, WTSI
Mau2tm1b(KOMP)Wtsi
cataracts, HET, Male, WTSI

View all 14 images

Mau2tm1b(KOMP)Wtsi
head, abnormal snout morphology, upturned snout, HET, Female, WTSI
Mau2tm1b(KOMP)Wtsi
head, abnormal snout morphology, HET, Male, WTSI
Mau2tm1b(KOMP)Wtsi
head, abnormal snout morphology, asymmetric snout, malocclusion, HET, Female, WTSI
Mau2tm1b(KOMP)Wtsi
head, abnormal snout morphology, asymmetric snout, malocclusion, HET, Female, WTSI
Mau2tm1b(KOMP)Wtsi
head, malocclusion, HET, Male, WTSI

View all 9 images

Mau2tm1b(KOMP)Wtsi
TS20 liver, HET, Female, WTSI
Mau2tm1b(KOMP)Wtsi
TS20 lung, HET, Male, WTSI
Mau2tm1b(KOMP)Wtsi
TS20 hindbrain, HET, Male, WTSI
Mau2tm1b(KOMP)Wtsi
TS20 chorioallantoic placenta, HET, Male, WTSI
Mau2tm1b(KOMP)Wtsi
TS20 ear, HET, Male, WTSI

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
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 45
Developmental cataract OMIM:616851
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 38
Developmental cataract OMIM:614691
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
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
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Spastic Paraparesis And Deafness
Tremor, Cataract OMIM:312910
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Trichomegaly
Cataract OMIM:190330
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Optic Atrophy 3, Autosomal Dominant
Tremor, Cataract OMIM:165300
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
X-Linked Retinoschisis
Cataract ORPHA:792
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Galactosemia Iv
Cataract OMIM:618881
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Scoliosis, Progressive cataract OMIM:246000
Galactosemia Ii
Cataract OMIM:230200
Absence Deformity Of Leg-Cataract Syndrome
Hyperlordosis, Cataract, Scoliosis ORPHA:2310
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Kyphoscoliosis, Cataract OMIM:212540
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Cataract ORPHA:401830
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Kahrizi Syndrome
Thoracic kyphosis, Cataract, Iris coloboma OMIM:612713
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Cataract 47
Microcornea, Cataract OMIM:612018
Intellectual Disability-Cataracts-Kyphosis Syndrome
Thoracic kyphosis, Cataract, Iris coloboma ORPHA:171860
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Cataract ORPHA:85172
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Kyphosis ORPHA:85288
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Scoliosis, Cataract, Hyperlordosis OMIM:617404
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Nathalie Syndrome
Cataract OMIM:255990
Xeroderma Pigmentosum, Complementation Group G
Tremor, Cataract OMIM:278780
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Cataract 11, Multiple Types
Cataract OMIM:610623
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Kyphosis ORPHA:1875
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Aniridia 2
Aniridia, Cataract OMIM:617141
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormal intervertebral disk morphology, Cataract ORPHA:1345
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Kyphoscoliosis, Cataract, Atlantoaxial abnormality ORPHA:3433
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Sacral dimple, Scoliosis, Cataract OMIM:608227
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Thoracic kyphoscoliosis, Developmental cataract, Spinal canal stenosis, Cervical spinal canal ste... ORPHA:436174
Retinitis Pigmentosa 84
Cataract OMIM:618220
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of the cervical spine, Kyphosis, Intention tremor, Cataract, Microcornea, Scoliosis ORPHA:48431
Nevus Comedonicus Syndrome
Spina bifida occulta, Scoliosis, Cataract, Abnormal vertebral morphology ORPHA:64754
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Autosomal Recessive Stickler Syndrome
Platyspondyly, Astigmatism, Cataract, Irregular vertebral endplates ORPHA:250984
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Kyphosis, Catarac... ORPHA:2635
Pellagra-Like Syndrome
Cataract OMIM:260650
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Retinopathy, Pigmentary, And Mental Retardation
Scoliosis, Cataract OMIM:268050
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Scoliosis, Cataract, Lens subluxation ORPHA:171844
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Congenital Varicella Syndrome
Cataract ORPHA:291
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Retinitis Pigmentosa 4
Cataract OMIM:613731
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cataract 43
Subcapsular cataract OMIM:616279
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma ORPHA:1473
Hypomelanosis Of Ito
Kyphosis, Scoliosis, Cataract, Iris coloboma OMIM:300337
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract OMIM:614482
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma OMIM:212550
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Scoliosis, Cataract OMIM:615704
Retinitis Pigmentosa 2
Cataract OMIM:312600
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Scoliosis ORPHA:893
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Stickler Syndrome Type 1
Platyspondyly, Cataract, Abnormality of vertebral epiphysis morphology ORPHA:90653
Retinitis Pigmentosa 9
Cataract OMIM:180104
Achondrogenesis Type 2
Lens subluxation, Unossified sacrum, Absent vertebral body mineralization, Cataract, Delayed vert... ORPHA:93296
Dystonia, Juvenile-Onset
Kyphoscoliosis, Cataract OMIM:607371
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Platyspondyly, Cataract, Abnormality of the vertebral endplates, Ovoid vertebral bodies ORPHA:1856
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Aplasia/Hypoplasia of the lens, Platyspondyly, Thoracic ... ORPHA:85194
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Joubert Syndrome 9
Astigmatism, Scoliosis, Cataract OMIM:612285
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract 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
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hemivertebrae, Iris coloboma, Cataract, Scoliosis ORPHA:377
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Achromatopsia 3
Cataract OMIM:262300
Stickler Syndrome, Type I
Morbus Scheuermann, Beaking of vertebral bodies, Platyspondyly, Kyphosis, Spondylolisthesis, Cata... OMIM:108300
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Cataract, Kyphosis ORPHA:79107
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Spinal canal stenosis, Butterfly vertebra... ORPHA:79345
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
Ifap Syndrome 2
Keratoconjunctivitis sicca, Cataract, Keratitis OMIM:619016
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Osteoporosis-Pseudoglioma Syndrome
Absent anterior chamber of the eye, Kyphoscoliosis, Platyspondyly, Iris atrophy, Cataract OMIM:259770
Chondrodysplasia Punctata, Autosomal Dominant
Scoliosis, Cataract OMIM:118650
Autosomal Dominant Optic Atrophy And Cataract
Postural tremor, Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract... ORPHA:67036
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Irregular vertebral endplates, Abnormal form of the vertebral bodies, Kyphosis, Cataract, Scolios... ORPHA:3042

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)