Gene Summary

Name:
tyrosyl-tRNA synthetase
Synonyms:
N/A

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
preweaning lethality, complete penetrance Yarstm1b(KOMP)Wtsi HOM   Early adult 0.00
corneal opacity Yarstm1b(KOMP)Wtsi HET Early adult 9.58×10-05
embryonic lethality prior to tooth bud stage Yarstm1b(KOMP)Wtsi HOM   E12.5 0.00
embryonic lethality prior to organogenesis Yarstm1b(KOMP)Wtsi HOM   E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 33.33% (2 of 6)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 33.33% (2 of 6)
Embryo N/A heterozygote 33.33% (2 of 6)
Eye N/A heterozygote 33.33% (2 of 6)
Footplate N/A heterozygote 0.0% (0 of 6)
Forebrain N/A heterozygote 33.33% (2 of 6)
Forelimb N/A heterozygote 33.33% (2 of 6)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 6)
Head N/A heterozygote 0.0% (0 of 6)
Heart N/A heterozygote 33.33% (2 of 6)
Hindbrain N/A heterozygote 33.33% (2 of 6)
Hindlimb N/A heterozygote 33.33% (2 of 6)
Liver N/A heterozygote 33.33% (2 of 6)
Lung N/A heterozygote 33.33% (2 of 6)
Mandibular process N/A heterozygote 33.33% (2 of 6)
Maxillary process N/A heterozygote 33.33% (2 of 6)
Midbrain N/A heterozygote 33.33% (2 of 6)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 33.33% (2 of 6)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 33.33% (2 of 6)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 33.33% (2 of 6)
Tail N/A heterozygote 33.33% (2 of 6)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.92% (1 of 52)
brain 1.5% (6 of 400)
central nervous system ganglion 1.72% (1 of 58)
ear 0.26% (1 of 392)
embryo 0.0%
eye 0.26% (1 of 392)
footplate 0.25% (1 of 397)
forebrain 0.0%
forelimb 0.25% (1 of 399)
gut 2.17% (1 of 46)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
heart 0.25% (1 of 403)
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
liver 0.0%
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
midbrain 0.25% (1 of 401)
nose 1.56% (1 of 64)
oral cavity 0.24% (1 of 415)
skeleton 0.0%
skin 0.25% (1 of 396)
spinal cord 1.79% (1 of 56)
tail 0.0%
tail somite group 0.25% (1 of 401)
trachea 2.56% (1 of 39)
urinary system 0.0%

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 Dorso Ventral

14 Images

Embryo LacZ

LacZ images wholemount

24 Images

Gross Morphology Embryo E9.5

Images

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Eye Morphology

Images Slit Lamp

1 Images

Human diseases caused by Yars 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 Yars by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
OMIM:619418
Charcot-Marie-Tooth Disease, Dominant Intermediate C
OMIM:608323

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea
Megalocornea OMIM:249300
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Hypesthesia, Familial
Recurrent corneal erosions OMIM:122450
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Morquio Syndrome C
Corneal opacity OMIM:252300
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
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
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Galactosialidosis
Corneal opacity ORPHA:351
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Cataract 47
Microcornea, Cataract OMIM:612018
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... ORPHA:98974
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Cornea verticilla... ORPHA:171673
Winchester Syndrome
Corneal opacity OMIM:277950
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Corneal perforation, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Atopic Keratoconjunctivitis
Corneal opacity, Keratoconjunctivitis sicca, Chemosis, Keratitis, Corneal neovascularization ORPHA:163934
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal ulceration, Corneal scarring OMIM:616488
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Ocular Cystinosis
Corneal crystals ORPHA:411641
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Subepithelial corneal opacities, Corneal dystrophy OMIM:221800
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Vernal Keratoconjunctivitis
Punctate keratitis, Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva ... ORPHA:70476
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcornea, Astigmatism, Corneal opacity, Cataract, Myopic astigmatism OMIM:152950
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Norrie Disease
Cataract, Shallow anterior chamber, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:310600
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Fish-Eye Disease
Corneal opacity ORPHA:79292
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Neurotrophic Keratopathy
Corneal ulceration, Corneal perforation, Corneal scarring, Astigmatism, Corneal stromal edema, Re... ORPHA:137596
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Congenital Rubella Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:290
Scheie Syndrome
Corneal opacity OMIM:607016
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Sialidosis Type 2
Corneal opacity ORPHA:87876
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Corneal opac... ORPHA:3163
Mietens Syndrome
Sclerocornea, Microcornea, Cataract, Corneal opacity ORPHA:2557
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Sclerocornea, Microcornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Microcornea, Cat... ORPHA:91495
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Microcornea, Cataract, Iris coloboma ORPHA:139471
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Lcat Deficiency
Corneal opacity ORPHA:650
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Aniridia, Ectopia pupillae, Opac... OMIM:106210
Oculoauricular Syndrome
Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior embryotoxon, Ocular anteri... OMIM:612109
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Zellweger Syndrome
Posterior embryotoxon, Brushfield spots, Cataract, Corneal opacity ORPHA:912
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Lowry-Maclean Syndrome
Corneal opacity, Megalocornea, Developmental glaucoma ORPHA:2409
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Bartsocas-Papas Syndrome
Corneal opacity, Popliteal pterygium ORPHA:1234
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Walker-Warburg Syndrome
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:899
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
Hypercholesterolemia, Familial, 3
Corneal arcus OMIM:603776
8Q21.11 Microdeletion Syndrome
Sclerocornea, Cataract, Corneal opacity, Iris hypopigmentation ORPHA:284160
Hypercholesterolemia, Familial, 1
Corneal arcus OMIM:143890
Scheie Syndrome
Corneal opacity ORPHA:93474
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Congenital Sialidosis Type 2
Corneal opacity, Cataract, Developmental cataract ORPHA:93400
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Cataract, Conjunctival hyperemia ORPHA:2399
Hypercholesterolemia, Familial, 2
Corneal arcus OMIM:144010
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Multiple Sulfatase Deficiency
Cataract, Corneal opacity ORPHA:585
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity OMIM:301056
Cystinosis
Corneal opacity ORPHA:213
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Familial Dysautonomia
Corneal erosion, Abnormal pupil morphology, Corneal opacity, Heterochromia iridis ORPHA:1764
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Aniridia, Iris coloboma ORPHA:251038
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ocular albinism, Iris hypopigmentation ORPHA:2719
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia OMIM:256540
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Limbal dermoid, Abnormal anterior chamber morphology, Hypoplasia of the iris OMIM:613001
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Axenfeld-Rieger Syndrome, Type 2
Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae OMIM:601499
Fucosidosis
Corneal opacity ORPHA:349
Farber Disease
Opacification of the corneal stroma, Corneal opacity, Abnormal conjunctiva morphology ORPHA:333
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Stromme Syndrome
Sclerocornea, Microcornea, Cataract, Peters anomaly, Iris coloboma OMIM:243605
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma OMIM:113470
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Posterior embryotoxon, Peters anomaly, Ocular anterior segment dysgenesis, Opac... OMIM:612582
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Peters anomaly, Buphthalmos, Megalocornea OMIM:236670
Hurler Syndrome
Opacification of the corneal stroma, Corneal opacity OMIM:607014
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Opacification of the corneal stroma, Cataract OMIM:211370
Focal Dermal Hypoplasia
Iris coloboma, Corneal opacity, Ectopia lentis, Hypoplasia of the iris ORPHA:2092
Mucoepithelial Dysplasia, Hereditary
Opacification of the corneal stroma, Corneal neovascularization, Cataract, Keratoconjunctivitis OMIM:158310
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Peripheral opacification of the cornea OMIM:259600
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Peroxisome Biogenesis Disorder 5A (Zellweger)
Opacification of the corneal stroma, Brushfield spots, Cataract OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Opacification of the corneal stroma, Brushfield spots, Cataract OMIM:214110
Incontinentia Pigmenti
Keratitis, Cataract, Corneal opacity ORPHA:464
3Mc Syndrome 3
Corneal opacity OMIM:248340
Schimke Immunoosseous Dysplasia
Opacification of the corneal stroma, Astigmatism OMIM:242900
Fryns Syndrome
Corneal opacity ORPHA:2059
Pseudo-Torch Syndrome 1
Opacification of the corneal stroma, Cataract OMIM:251290
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Mucopolysaccharidosis Type 3
Opacification of the corneal stroma, Cataract, Corneal opacity ORPHA:581
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Recurrent corneal erosions, Opacification of the corneal stroma OMIM:308205
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Alpha-Mannosidosis, Infantile Form
Cataract, Astigmatism, Corneal opacity ORPHA:309282
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Megalocornea, Iris coloboma, Posterior subcapsular cataract ORPHA:536471
Hurler Syndrome
Corneal opacity ORPHA:93473
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity OMIM:615273
Wilson Disease
Kayser-Fleischer ring OMIM:277900
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Moebius Syndrome
Corneal opacity ORPHA:570
Carpenter Syndrome 1
Opacification of the corneal stroma, Microcornea OMIM:201000
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy ORPHA:324
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea OMIM:271960
Oculoectodermal Syndrome
Opacification of the corneal stroma, Microcornea, Astigmatism, Limbal dermoid OMIM:600268
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy, Buphthalmos ORPHA:495875
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Linear Skin Defects With Multiple Congenital Anomalies 1
Sclerocornea, Cataract, Iris coloboma OMIM:309801
Norrie Disease
Hypoplasia of the iris, Sclerocornea, Cataract, Corneal opacity, Aplasia/Hypoplasia of the lens, ... ORPHA:649
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos ORPHA:534
Phace Syndrome
Heterochromia iridis, Sclerocornea, Cataract, Lens coloboma, Iris coloboma ORPHA:42775
Larsen Syndrome
Corneal opacity OMIM:150250
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma OMIM:253010
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Lathosterolosis
Opacification of the corneal stroma, Microcornea, Cataract ORPHA:46059
Microphthalmia With Linear Skin Defects Syndrome
Sclerocornea, Corneal opacity, Posterior embryotoxon ORPHA:2556
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Tangier Disease
Corneal opacity ORPHA:31150
Proboscis Lateralis
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:141099
Peroxisome Biogenesis Disorder 1A (Zellweger)
Opacification of the corneal stroma, Brushfield spots, Cataract OMIM:214100
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Chime Syndrome
Corneal opacity ORPHA:3474
Neurofibromatosis Type 1
Cataract, Corneal opacity, Heterochromia iridis, Lisch nodules ORPHA:636
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Astigmatism, Corneal opacity, Keratitis, Corneal erosion, Conjunctivitis ORPHA:2273
Galloway-Mowat Syndrome 1
Opacification of the corneal stroma, Cataract, Hypoplasia of the iris OMIM:251300
Meckel Syndrome
Sclerocornea, Microcornea, Cataract, Aplasia/Hypoplasia of the iris ORPHA:564
Kindler Epidermolysis Bullosa
Corneal opacity, Conjunctivitis ORPHA:2908
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Microphthalmia, Syndromic 3
Sclerocornea, Cataract OMIM:206900
Mucopolysaccharidosis, Type Vi
Opacification of the corneal stroma OMIM:253200
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Peters Plus Syndrome
Microcornea, Cataract, Corneal opacity, Peters anomaly, Anterior chamber synechiae, Iris coloboma ORPHA:709
Mucolipidosis Ii Alpha/Beta
Opacification of the corneal stroma, Megalocornea OMIM:252500
Mucopolysaccharidosis Type 2
Corneal opacity ORPHA:580
Limb Body Wall Complex
Corneal opacity, Lens subluxation, Iris coloboma ORPHA:2369
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Wolf-Hirschhorn Syndrome
Sclerocornea, Megalocornea, Iris coloboma ORPHA:280
Williams Syndrome
Posterior embryotoxon, Cataract, Corneal opacity, Blue irides, Flat cornea, Aplasia/Hypoplasia of... ORPHA:904
Gaucher Disease
Corneal opacity ORPHA:355
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Smith-Lemli-Opitz Syndrome
Sclerocornea, Cataract, Iris coloboma ORPHA:818
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Xeroderma Pigmentosum
Pterygium, Opacification of the corneal stroma, Cataract, Conjunctival telangiectasia, Keratitis ORPHA:910
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Cockayne Syndrome B
Opacification of the corneal stroma, Microcornea, Developmental cataract, Hypoplasia of the iris OMIM:133540
Fraser Syndrome 1
Corneal opacity OMIM:219000
Bartsocas-Papas Syndrome 1
Corneal ulceration, Pterygium, Popliteal pterygium, Axillary pterygium, Opacification of the corn... OMIM:263650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Lathosterolosis
Opacification of the corneal stroma, Cataract OMIM:607330
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity ORPHA:3455
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Opacification of the corneal stroma, Cataract, Megalocornea, Buphthalmos OMIM:253280
Cockayne Syndrome A
Opacification of the corneal stroma, Cataract OMIM:216400
Yunis-Varon Syndrome
Sclerocornea, Cataract ORPHA:3472
Digeorge Syndrome
Sclerocornea, Posterior embryotoxon OMIM:188400
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Microphthalmia, Syndromic 6
Sclerocornea, Microcornea OMIM:607932
Yunis-Varon Syndrome
Sclerocornea, Cataract OMIM:216340
Roberts-Sc Phocomelia Syndrome
Opacification of the corneal stroma, Cataract OMIM:268300
Charcot-Marie-Tooth Disease, Dominant Intermediate C
OMIM:608323
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
OMIM:619418

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 Yars

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 Yars.

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

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MGI Allele Allele Type Produced
Yarstm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Yarstm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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