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Gene: Ikzf2 MGI:1342541

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Gene Summary

Name:
IKAROS family zinc finger 2
Synonyms:
Zfpn1a2,  A730095J18Rik,  Helios

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.

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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 Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Echo

M-Mode Images

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

6 Images

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Human diseases caused by Ikzf2 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 Ikzf2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract, Hearing impairment OMIM:120040
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Galactosialidosis
Corneal opacity, Hearing impairment ORPHA:351
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Morquio Syndrome C
Corneal opacity OMIM:252300
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Stickler Syndrome Type 2
Sensorineural hearing impairment, Cataract, Corneal opacity ORPHA:90654
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Sensorineural hearing impairment, Posterior embryotoxon, Iris coloboma ORPHA:1473
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Hearing impairment OMIM:144300
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Winchester Syndrome
Corneal opacity OMIM:277950
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Gómez-López-Hernández Syndrome
Corneal opacity, Low-set ears ORPHA:1532
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Mucolipidosis Type Iii
Hearing abnormality, Corneal opacity ORPHA:577
Norrie Disease
Cataract, Corneal opacity, Sensorineural hearing impairment, Leukocoria, Hypoplasia of the iris, ... OMIM:310600
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Corneal opacity ORPHA:2370
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Hearing impairment, Protruding ear ORPHA:317
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Low-set ears, Overfolded helix, Axil... OMIM:619339
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Hurler-Scheie Syndrome
Sensorineural hearing impairment, Corneal opacity ORPHA:93476
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Alpha-Mannosidosis
Cataract, Corneal opacity, Abnormal helix morphology, Chronic otitis media, Macrotia, Hearing imp... ORPHA:61
Sialidosis Type 2
Corneal opacity, Hearing impairment ORPHA:87876
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc... ORPHA:1806
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Sensorineural hearing impairment, Cataract, Corneal opacity ORPHA:290
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Protruding ear, Microcornea, Astigmatism OMIM:152950
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Low-set ears, Ocular anterior segment dysgenesis, Macrotia, Iris coloboma OMIM:615145
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Posteriorly rotated ears, Corneal opacity, Keratitis, Microtia, Conjunctivitis, Recurrent otitis ... OMIM:602562
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Sensorineural hearing impairme... ORPHA:3163
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Microphthalmia With Brain And Digit Anomalies
Cataract, Sclerocornea, Sensorineural hearing impairment, Microcornea, Iris coloboma ORPHA:139471
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Rodrigues Blindness
Microcornea, Sclerocornea, Protruding ear OMIM:268320
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Hearing impairment OMIM:256540
Fish-Eye Disease
Corneal opacity ORPHA:79292
Scheie Syndrome
Corneal opacity OMIM:607016
Ocular Cystinosis
Corneal crystals ORPHA:411641
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... ORPHA:137596
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Abnormal pinna morphology, Band keratopathy, Vertigo, Hypoplasia of the iris, Anterior synechiae ... OMIM:614195
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Sialidosis Type 1
Sensorineural hearing impairment, Cataract, Corneal opacity ORPHA:812
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Scheie Syndrome
Sensorineural hearing impairment, Corneal opacity ORPHA:93474
Alpha-Mannosidosis, Adult Form
Mixed hearing impairment, Cataract, Corneal opacity ORPHA:309288
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Low-set ears, Hearing impairment ORPHA:93399
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Hearing impairment, Low-set ears, Iris hypopigmentation ORPHA:284160
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity, Hearing impairment ORPHA:357058
Congenital Sialidosis Type 2
Cataract, Corneal opacity, Developmental cataract, Low-set ears, Hearing impairment ORPHA:93400
Oculoauricular Syndrome
Cataract, Sclerocornea, Absent earlobe, Developmental cataract, Microcornea, Iris cyst, Posterior... OMIM:612109
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Opacification of the corneal stroma OMIM:601356
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Oculocerebrocutaneous Syndrome
External ear malformation, Corneal opacity, Iris coloboma, Hearing impairment ORPHA:1647
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Zellweger Syndrome
Cataract, Corneal opacity, Brushfield spots, External ear malformation, Sensorineural hearing imp... ORPHA:912
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Low-set ears, Aniridia, Iris coloboma, Hearing impairment ORPHA:251038
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Abnormality of cartilage of external ear, Cupped ear, Low-set ears, Co... ORPHA:2399
Multiple Sulfatase Deficiency
Sensorineural hearing impairment, Cataract, Corneal opacity ORPHA:585
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Posteriorly rotated ears, Corneal opacity, Large earlobe, Astigmatism, Low-set ears, Hearing impa... OMIM:301056
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Walker-Warburg Syndrome
Cataract, Corneal opacity, Posteriorly rotated ears, Protruding ear, Microcornea, Low-set ears, I... ORPHA:899
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Hearing impairment OMIM:601499
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Cutis Laxa, Autosomal Dominant 3
Protruding ear, Corneal opacity, Low-set ears, Developmental cataract OMIM:616603
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea, Hearing impairment ORPHA:77298
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity, Low-set ears ORPHA:2409
Lcat Deficiency
Corneal opacity ORPHA:650
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Fucosidosis
Corneal opacity, Hearing impairment ORPHA:349
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Wagro Syndrome
Aniridia, Cataract, Corneal opacity, Low-set ears OMIM:612469
3Mc Syndrome 3
Abnormal pinna morphology, Corneal opacity, Auricular pit, Hearing impairment OMIM:248340
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment, Astigmatism, Sclerocornea ORPHA:2095
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Multiple Sulfatase Deficiency
Corneal opacity, Hearing impairment OMIM:272200
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Chromosome 6Pter-P24 Deletion Syndrome
Posteriorly rotated ears, Sensorineural hearing impairment, Axenfeld anomaly, Opacification of th... OMIM:612582
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Mosaic Trisomy 8
Corneal opacity, Abnormal pinna morphology, Protruding ear, Abnormal antihelix morphology, Macrot... ORPHA:96061
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Sensorineural hearing impairment, Ocular albinism, Iris hypopigmentation ORPHA:2719
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Opacification of the corneal stroma, Hearing impairment OMIM:253010
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Astigmatism, Corneal opacity ORPHA:2323
Mucopolysaccharidosis Type 4
Corneal opacity, Hearing impairment ORPHA:582
Hurler Syndrome
Recurrent otitis media, Corneal opacity, Opacification of the corneal stroma, Hearing impairment OMIM:607014
Cystinosis
Corneal opacity ORPHA:213
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Vertigo, Tinnitus, Opacification of the corneal stroma, Hearing impairment ORPHA:79280
Gm1 Gangliosidosis
Macrotia, Corneal opacity, Low-set ears ORPHA:354
Mucopolysaccharidosis, Type Vii
Recurrent otitis media, Sensorineural hearing impairment, Corneal opacity, Hearing impairment OMIM:253220
Stromme Syndrome
Cataract, Sclerocornea, Microcornea, Low-set ears, Peters anomaly, Iris coloboma OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Buphthalmos, Microtia, Atresia of the external auditory canal, Low-set... OMIM:236670
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Mucopolysaccharidosis Type 3
Mixed hearing impairment, Cataract, Corneal opacity, Thickened helices, Abnormality of the middle... ORPHA:581
Mucopolysaccharidosis Type 1
Chronic otitis media, Sensorineural hearing impairment, Corneal opacity, Hearing impairment ORPHA:579
Focal Dermal Hypoplasia
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Low-set ears, Abnormality of the middle ... ORPHA:2092
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity ORPHA:1764
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Sensorineural hearing impairment, Protruding ear, Low-set ears OMIM:614230
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Gomez-Lopez-Hernandez Syndrome
Low-set ears, Posteriorly rotated ears, Opacification of the corneal stroma OMIM:601853
Mucopolysaccharidosis Type 6
Chronic otitis media, Opacification of the corneal stroma, Hearing impairment ORPHA:583
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
De Barsy Syndrome
Cataract, Corneal opacity, Large earlobe, Bilateral sensorineural hearing impairment, Low-set ears ORPHA:2962
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Mucoepithelial Dysplasia, Hereditary
Cataract, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovascularization, ... OMIM:158310
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Corneal opacity, Hearing impairment ORPHA:364577
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Sensorineural hearing impairment, Corneal opacity OMIM:601812
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Dyggve-Melchior-Clausen Disease
Corneal opacity, Hearing impairment ORPHA:239
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Alpha-Mannosidosis, Infantile Form
Mixed hearing impairment, Cataract, Corneal opacity, Sensorineural hearing impairment, Astigmatis... ORPHA:309282
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Carpenter Syndrome 1
Abnormal pinna morphology, Sensorineural hearing impairment, Microcornea, Low-set ears, Opacifica... OMIM:201000
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Vertigo, Sensorineural... ORPHA:324
Moebius Syndrome
Corneal opacity, Hearing impairment ORPHA:570
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Incontinentia Pigmenti
Keratitis, Hearing abnormality, Cataract, Corneal opacity ORPHA:464
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Hurler Syndrome
Corneal opacity, Hearing impairment ORPHA:93473
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion, Microtia, Atresia of the external auditory canal, Hearing impai... ORPHA:920
Tbck-Related Intellectual Disability Syndrome
Sensorineural hearing impairment, Corneal opacity ORPHA:488632
Pseudo-Torch Syndrome 1
Low-set ears, Cataract, Opacification of the corneal stroma OMIM:251290
Mosaic Trisomy 9
Corneal opacity, Low-set ears ORPHA:99776
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set, posteriorly rotated ears, Corneal opacity, Posterior subcapsular cataract, Low-set ears,... ORPHA:536471
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cataract, Abnormal helix morphology, Opacification of the corneal stroma OMIM:214110
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Peters anomaly, Iris coloboma, Hearing impairment OMIM:309801
Fryns Syndrome
Low-set, posteriorly rotated ears, Corneal opacity ORPHA:2059
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Hearing impairment ORPHA:1052
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Posteriorly rotated ears, Brushfield spots, Sensorineural hearing impairment, Low-set e... OMIM:214100
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Larsen Syndrome
Conductive hearing impairment, Corneal opacity, Hearing impairment OMIM:150250
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Lathosterolosis
Microcornea, Cataract, Opacification of the corneal stroma, Hearing impairment ORPHA:46059
Mucopolysaccharidosis, Type Vi
Corneal opacity, Hearing impairment OMIM:253200
Dyrk1A-Related Intellectual Disability Syndrome
Macrotia, Astigmatism, Corneal opacity, Protruding ear ORPHA:464306
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity, Protruding ear ORPHA:464311
Microphthalmia, Syndromic 3
Sensorineural hearing impairment, Cataract, Bilateral sensorineural hearing impairment, Sclerocornea OMIM:206900
Chime Syndrome
Abnormality of the outer ear, Corneal opacity, Hearing impairment ORPHA:3474
Microphthalmia With Linear Skin Defects Syndrome
Corneal opacity, Sclerocornea, Abnormality of the ear, Abnormal earlobe morphology, Cleft earlobe... ORPHA:2556
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma, Hearing impairment OMIM:253000
Histiocytoid Cardiomyopathy
Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity, Low-set ears OMIM:615273
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Buphthalmos, Keratoconjunctivitis sicca, Low-set ears ORPHA:495875
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Abnormal pupil morphology, Protrudi... ORPHA:534
Neurofibromatosis Type 1
Cataract, Corneal opacity, Hearing abnormality, Lisch nodules, Heterochromia iridis, Hearing impa... ORPHA:636
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Posteriorly rotated ears, Sensorineural hearing impairment, Corneal opacity, Low-set ears OMIM:608670
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Sensorineural hearing impairment, Low-set ears, Opacification of the ... OMIM:614866
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Schimke Immunoosseous Dysplasia
Astigmatism, Opacification of the corneal stroma OMIM:242900
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Sensorineural hearing impairment, Opacification... ORPHA:910
Mucopolysaccharidosis Type 2, Severe Form
Conductive hearing impairment, Otosclerosis, Sensorineural hearing impairment, Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2
Conductive hearing impairment, Otosclerosis, Sensorineural hearing impairment, Corneal opacity ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Conductive hearing impairment, Otosclerosis, Sensorineural hearing impairment, Corneal opacity ORPHA:217093
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea, Hearing impairment OMIM:619869
Wolf-Hirschhorn Syndrome
Low-set, posteriorly rotated ears, Sclerocornea, Microtia, Chronic otitis media, Megalocornea, Ir... ORPHA:280
Fraser Syndrome 1
Corneal opacity, Abnormal pinna morphology, Cupped ear, Atresia of the external auditory canal, L... OMIM:219000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Microtia, second degree, Cataract, Corneal opacity, Microcorne... ORPHA:709
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Galloway-Mowat Syndrome 1
Cataract, Hypoplasia of the iris, Low-set ears, Opacification of the corneal stroma, Macrotia OMIM:251300
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Van Den Ende-Gupta Syndrome
Posteriorly rotated ears, Sclerocornea, Overfolded helix, Protruding ear, Small earlobe OMIM:600920
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Osteogenesis Imperfecta
Mixed hearing impairment, Progressive hearing impairment, Corneal opacity, Hearing impairment ORPHA:666
Tangier Disease
Corneal opacity ORPHA:31150
Mosaic Trisomy 1
Low-set ears, Abnormal pinna morphology, Opacification of the corneal stroma ORPHA:1692
Meckel Syndrome
Low-set, posteriorly rotated ears, Cataract, Sclerocornea, Microcornea, Aplasia/Hypoplasia of the... ORPHA:564
Gaucher Disease
Corneal opacity, Hearing impairment ORPHA:355
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis, Macrotia ORPHA:2273
Autosomal Dominant Cutis Laxa
Protruding ear, Corneal opacity, Low-set ears, Developmental cataract ORPHA:90348
Proboscis Lateralis
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:141099
Hutchinson-Gilford Progeria Syndrome
High-frequency sensorineural hearing impairment, Corneal opacity, Prominent ear helix, Low-freque... ORPHA:740
Williams Syndrome
Low-set, posteriorly rotated ears, Flat cornea, Corneal opacity, Cataract, Macrotia, Sensorineura... ORPHA:904
Smith-Lemli-Opitz Syndrome
Low-set, posteriorly rotated ears, Cataract, Sclerocornea, Sensorineural hearing impairment, Iris... ORPHA:818
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Sensorineural hearing impairment, Corneal opacity ORPHA:2072
Oculoectodermal Syndrome
Microcornea, Limbal dermoid, Astigmatism, Opacification of the corneal stroma OMIM:600268
Hereditary Acrokeratotic Poikiloderma
Hearing impairment, Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Sensorineural hearing impairment,... OMIM:133540
Bartsocas-Papas Syndrome 1
Cupped ear, Popliteal pterygium, Microtia, Opacification of the corneal stroma, Low-set ears, Pte... OMIM:263650
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Lathosterolosis
Conductive hearing impairment, Cataract, Opacification of the corneal stroma OMIM:607330
Stuve-Wiedemann Syndrome 1
Low-set ears, Opacification of the corneal stroma OMIM:601559
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity, Posteriorly rotated ears, Hearing abnormality, Abnormality of the ear,... ORPHA:3455
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Wilson Disease
Kayser-Fleischer ring OMIM:277900
Cockayne Syndrome A
Cataract, Abnormal pinna morphology, Abnormal auditory evoked potentials, Sensorineural hearing i... OMIM:216400
Mucolipidosis Ii Alpha/Beta
Recurrent otitis media, Megalocornea, Opacification of the corneal stroma OMIM:252500
Microphthalmia, Syndromic 6
Posteriorly rotated ears, Uplifted earlobe, Sclerocornea, Protruding ear, Microcornea, Low-set ea... OMIM:607932
Yunis-Varon Syndrome
Cataract, Abnormal pinna morphology, Sclerocornea, Low-set ears, Hearing impairment ORPHA:3472
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Posteriorly rotated ears, Abnormal pinna morphology, Low-set ears, Opa... OMIM:268300
Fryns Syndrome
Low-set ears, Abnormal helix morphology, Opacification of the corneal stroma OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma OMIM:253280
Digeorge Syndrome
Sclerocornea, Low-set ears, Recurrent otitis media, Abnormality of the middle ear, Posterior embr... OMIM:188400
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Corneal neovasculariz... OMIM:308205
Yunis-Varon Syndrome
Cataract, Sclerocornea, Sensorineural hearing impairment, Cupped ear, Protruding ear, Prominent a... OMIM:216340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287

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 Ikzf2

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 Ikzf2.

No publications found that use IMPC mice or data for Ikzf2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ikzf2tm1aNarl KO first allele (reporter-tagged insertion with conditional potential) ES Cells
Ikzf2em3(IMPC)H Exon Deletion Mice
Ikzf2em2(IMPC)H Exon Deletion Mice
Ikzf2em1H Insertion Mice

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