Gene Summary

Name:
alanyl (membrane) aminopeptidase
Synonyms:
Cd13,  Apn,  aminopeptidase N

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 cardiac muscle contractility Anpepem1(IMPC)Hmgu HOM   Early adult 5.29×10-05
corneal deposits Anpepem1(IMPC)Hmgu HOM   Early adult 2.49×10-06
abnormal cornea morphology Anpepem1(IMPC)Hmgu HOM   Early adult 3.23×10-06

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Anpep 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 Anpep by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
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
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
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
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
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
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Ocular Cystinosis
Corneal crystals ORPHA:411641
Dermoids Of Cornea
Corneal opacity OMIM:304730
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Retinal Venous Beading
Saccular conjunctival dilatations, Retinal neovascularization, Abnormal distribution of retinal a... OMIM:180080
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Retinitis Pigmentosa 29
Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612165
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Epistaxis, Retinal vasculitis, Retinal ... ORPHA:40923
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Corneal Hypesthesia, Familial
Recurrent corneal erosions OMIM:122450
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:615990
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Cornea verticilla... ORPHA:171673
Morquio Syndrome C
Corneal opacity OMIM:252300
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Vitreous hemorrhage, Tractional retin... ORPHA:90050
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Retinitis Pigmentosa 39
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613809
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Cone-Rod Dystrophy 22
Bull's eye maculopathy, Absent foveal reflex, Retinal pigment epithelial atrophy, Hypoautofluores... OMIM:619531
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Galactosialidosis
Corneal opacity ORPHA:351
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Hepatic Lipase Deficiency
Angina pectoris, Corneal arcus OMIM:614025
Norrie Disease
Cataract, Shallow anterior chamber, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:310600
Choroideremia
Hypopigmentation of the fundus, Chorioretinal degeneration, Pigmentary retinopathy, Retinal pigme... OMIM:303100
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Retinitis Pigmentosa 54
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... OMIM:613428
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Abnormal retinal vascular morphology, Retinal cotton wool spot, Reti... ORPHA:247691
Cataract 47
Microcornea, Cataract OMIM:612018
Retinitis Pigmentosa 61
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:614180
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613801
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Vasculitis, Lymphocytic, Nodular
Nodular inflammatory vasculitis OMIM:192310
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Cataract 21, Multiple Types
Microcornea, Iris coloboma, Cortical pulverulent cataract, Cerulean cataract OMIM:610202
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Corneal perforation, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Aortic valve stenosis, Aortic regurgitation OMIM:252605
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
Infantile Nephropathic Cystinosis
Corneal crystals, Abnormal cornea morphology ORPHA:411629
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma, Angina pectoris ORPHA:425
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Juvenile Nephropathic Cystinosis
Corneal crystals, Hypovolemia, Abnormal cornea morphology ORPHA:411634
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... ORPHA:98974
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Vernal Keratoconjunctivitis
Punctate keratitis, Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva ... ORPHA:70476
Winchester Syndrome
Corneal opacity OMIM:277950
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Aniridia, Ectopia pupillae, Opac... OMIM:106210
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia OMIM:256540
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Hypercholesterolemia, Familial, 3
Corneal arcus OMIM:603776
Hypercholesterolemia, Familial, 1
Corneal arcus OMIM:143890
Tangier Disease
Opacification of the corneal stroma, Myocardial infarction OMIM:205400
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Hypercholesterolemia, Familial, 2
Corneal arcus OMIM:144010
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... OMIM:618613
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Developmental cataract, Corneal opacity, Hypertrophic cardiomyopathy, Bra... OMIM:618815
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Aortic regurgitation, Hyperopic astigmatism OMIM:252600
Cystinosis, Nephropathic
Corneal crystals, Recurrent corneal erosions OMIM:219800
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma OMIM:113470
Axenfeld-Rieger Syndrome, Type 2
Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae OMIM:601499
Schimke Immunoosseous Dysplasia
Astigmatism, Transient ischemic attack, Cerebral ischemia, Hypertension, Opacification of the cor... OMIM:242900
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Posterior embryotoxon, Peters anomaly, Ocular anterior segment dysgenesis, Opac... OMIM:612582
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Bietti Crystalline Dystrophy
Crystalline corneal dystrophy ORPHA:41751
Mucoepithelial Dysplasia, Hereditary
Cataract, Melena, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovasculari... OMIM:158310
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis ORPHA:411777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Atopic Keratoconjunctivitis
Corneal opacity, Keratoconjunctivitis sicca, Chemosis, Keratitis, Corneal neovascularization ORPHA:163934
Retinitis Pigmentosa 49
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613756
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Opacification of the corneal stroma, Cataract OMIM:211370
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal ulceration, Corneal scarring OMIM:616488
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Oligoarticular Juvenile Idiopathic Arthritis
Band keratopathy, Cataract, Anterior chamber synechiae ORPHA:85410
Oculoectodermal Syndrome
Microcornea, Astigmatism, Hypertrophic cardiomyopathy, Limbal dermoid, Transient ischemic attack,... OMIM:600268
Neurotrophic Keratopathy
Corneal ulceration, Corneal perforation, Corneal scarring, Astigmatism, Corneal stromal edema, Re... ORPHA:137596
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Pseudo-Torch Syndrome 1
Opacification of the corneal stroma, Cataract OMIM:251290
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
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Telangiectasia of the oral mucosa, Telangiectasia of the ski... ORPHA:79280
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Recurrent corneal erosions, Opacification of the corneal stroma OMIM:308205
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Subepithelial corneal opacities, Corneal dystrophy OMIM:221800
Intermediate Uveitis
Band keratopathy, Cataract, Vasculitis, Posterior synechiae of the anterior chamber ORPHA:279914
Gaucher Disease, Type Iiic
Opacification of the corneal stroma, Mitral stenosis OMIM:231005
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Aortic valve stenosis OMIM:253010
Scheie Syndrome
Corneal opacity, Aortic valve stenosis, Aortic regurgitation OMIM:607016
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Carpenter Syndrome 1
Opacification of the corneal stroma, Microcornea, Pulmonic stenosis OMIM:201000
Hurler Syndrome
Mitral regurgitation, Aortic regurgitation, Corneal opacity, Cardiomyopathy, Opacification of the... OMIM:607014
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Heart murmur, Opacif... OMIM:252500
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea OMIM:271960
Mucopolysaccharidosis, Type Vi
Opacification of the corneal stroma, Cardiomyopathy OMIM:253200
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Hurler-Scheie Syndrome
Corneal opacity, Cardiomyopathy ORPHA:93476
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Corneal ulceration, Corneal scarring, Keratoconjunctivitis sicca, Recurrent corneal erosions, Abn... OMIM:148210
Noonan Syndrome 9
Prominent corneal nerve fibers, Pulmonic stenosis OMIM:616559
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma, Pulmonary arterial hypertension OMIM:601559
Farber Disease
Opacification of the corneal stroma, Corneal opacity, Abnormal conjunctiva morphology ORPHA:333
Lathosterolosis
Opacification of the corneal stroma, Microcornea, Cataract ORPHA:46059
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Keratoglobus OMIM:229200
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Peroxisome Biogenesis Disorder 1A (Zellweger)
Opacification of the corneal stroma, Brushfield spots, Cataract OMIM:214100
Blau Syndrome
Band keratopathy, Iritis, Cataract, Hypertension, Pericarditis OMIM:186580
Xeroderma Pigmentosum
Pterygium, Opacification of the corneal stroma, Cataract, Conjunctival telangiectasia, Telangiect... ORPHA:910
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Galloway-Mowat Syndrome 1
Opacification of the corneal stroma, Cataract, Hypoplasia of the iris OMIM:251300
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Cutis Laxa, Autosomal Recessive, Type Iiia
Cataract, Corneal arcus OMIM:219150
Mucopolysaccharidosis Type 3
Reduced ejection fraction, Cataract, Corneal opacity, Atrioventricular block, Opacification of th... ORPHA:581
Progeria-Short Stature-Pigmented Nevi Syndrome
Band keratopathy, Cataract, Supraventricular arrhythmia ORPHA:2959
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Heart murmur ORPHA:1867
Autoimmune Polyendocrine Syndrome, Type Ii
Band keratopathy, Cataract, Keratoconjunctivitis OMIM:269200
Cockayne Syndrome B
Developmental cataract, Arrhythmia, Hypoplasia of the iris, Microcornea, Hypertension, Opacificat... OMIM:133540
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Hemorrhage of th... ORPHA:91495
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Telangiectasia of the skin, Keratoconjunctivitis ORPHA:2907
Dysbetalipoproteinemia
Angina pectoris, Corneal arcus ORPHA:412
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Peripheral opacification of the cornea OMIM:259600
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Mietens Syndrome
Sclerocornea, Microcornea, Cataract, Corneal opacity ORPHA:2557
Lathosterolosis
Opacification of the corneal stroma, Cataract OMIM:607330
Cockayne Syndrome A
Opacification of the corneal stroma, Cataract, Hypertension, Arrhythmia OMIM:216400
Bartsocas-Papas Syndrome 1
Corneal ulceration, Pterygium, Popliteal pterygium, Axillary pterygium, Opacification of the corn... OMIM:263650
H Syndrome
Facial telangiectasia, Corneal arcus, Abnormal cardiovascular system physiology ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Opacification of the corneal stroma, Cataract, Megalocornea, Buphthalmos OMIM:253280
Scheie Syndrome
Corneal opacity, Aortic regurgitation ORPHA:93474
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Alagille Syndrome 1
Band keratopathy, Abnormal anterior chamber morphology, Posterior embryotoxon, Microcornea, Catar... OMIM:118450
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Pulmonic stenosis, Prominent corneal nerve fibers, Mitral stenosis, ... OMIM:616564
Histiocytosis-Lymphadenopathy Plus Syndrome
Pulmonary arterial hypertension, Facial telangiectasia, Corneal arcus, Pulmonic stenosis OMIM:602782
Knobloch Syndrome 1
Band keratopathy, Developmental cataract, Persistent pupillary membrane, Lens subluxation, Cortic... OMIM:267750
Pseudohypoparathyroidism Type 1A
Band keratopathy, Cataract, Prolonged QT interval, Hypertension, Conjunctivitis ORPHA:79443
Cockayne Syndrome
Corneal ulceration, Band keratopathy, Lentiglobus, Developmental cataract, Abnormal cornea morpho... ORPHA:191
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Congeni... ORPHA:137675
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Conjunctivitis, Arrhythmia, Punctate opacification of the cornea OMIM:256040
Proximal Renal Tubular Acidosis
Hypovolemia, Band keratopathy, Cataract ORPHA:47159
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Roberts-Sc Phocomelia Syndrome
Opacification of the corneal stroma, Cataract OMIM:268300
Multiple Endocrine Neoplasia Type 2
Prominent corneal nerve fibers, Hypertension associated with pheochromocytoma, Hypertensive crisi... ORPHA:653

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 Anpep

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 Anpep.

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

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MGI Allele Allele Type Produced
Anpepem1(IMPC)Hmgu Exon Deletion Mice

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