Gene Summary

Name:
ankyrin repeat domain 52
Synonyms:
G431002C21Rik

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
anophthalmia Ankrd52em1(IMPC)J HOM E18.5 0.00
microphthalmia Ankrd52em1(IMPC)J HOM E18.5 0.00
abnormal embryo size Ankrd52em1(IMPC)J HOM E18.5 0.00
abnormal embryo size Ankrd52em1(IMPC)J HET E18.5 0.00
abnormal vocalization Ankrd52em1(IMPC)J HET Early adult 2.12×10-10
preweaning lethality, complete penetrance Ankrd52em1(IMPC)J HOM   Early adult 0.00
increased aggression Ankrd52em1(IMPC)J HET   Early adult 0.000100
decreased grip strength Ankrd52em1(IMPC)J HET   Early adult 3.11×10-05
decreased bone mineral content Ankrd52em1(IMPC)J HET Early adult 7.15×10-05

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.

Gross Morphology Embryo E18.5

Images

2 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Ankrd52 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 Ankrd52 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Nanophthalmos 4
Microphthalmia OMIM:615972
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Fryns Microphthalmia Syndrome
Neural tube defect, Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Nanophthalmos
Microphthalmia ORPHA:35612
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Microphthalmia OMIM:609054
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Mmep Syndrome
Microphthalmia ORPHA:3434
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia OMIM:616171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia ORPHA:1104
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:2470
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Trisomy 13
Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Cat-Eye Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:195
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Cofs Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1466
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Microphthalmia OMIM:612109
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Optic nerve hypoplasia, Unilateral microph... ORPHA:137902
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Myopia 27
Increased axial length of the globe OMIM:618827
Hartsfield Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:2117
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:48431
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Congenital Toxoplasmosis
Intrauterine growth retardation, Microphthalmia ORPHA:858
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:206900
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Microphthalmia OMIM:604229
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Pierpont Syndrome
Microphthalmia ORPHA:487825
Meckel Syndrome, Type 2
Meningocele, Microphthalmia, Intrauterine growth retardation OMIM:603194
Norrie Disease
Hypoplasia of the iris, Microphthalmia OMIM:310600
Trisomy 1Q
Anophthalmia ORPHA:261344
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Congenital Rubella Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta OMIM:169550
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
Vacterl With Hydrocephalus
Intrauterine growth retardation, Spina bifida, Microphthalmia, Anophthalmia ORPHA:3412
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of th... ORPHA:2334
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Pierpont Syndrome
Microphthalmia OMIM:602342
Temtamy Syndrome
Microphthalmia ORPHA:1777
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia OMIM:610756
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Bilateral microphthalmos, Anophthalmia OMIM:601186
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Microphthalmia OMIM:300863
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Bresek Syndrome
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Bilateral microphthalmos OMIM:600122
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Umbilical hernia, Anophthalmia ORPHA:1101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Fibular Hemimelia
Spina bifida, Anophthalmia ORPHA:93323
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Seckel Syndrome 2
Microphthalmia OMIM:606744
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Rodrigues Blindness
Microphthalmia OMIM:268320
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Microphthalmia ORPHA:163966
Hemifacial Microsomia
Microphthalmia, Branchial anomaly, Anophthalmia OMIM:164210
Joubert Syndrome 21
Anophthalmia OMIM:615636
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Holoprosencephaly
Spinal dysraphism, Microphthalmia, Branchial anomaly, Anophthalmia ORPHA:2162
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:228390
Meckel Syndrome, Type 4
Meningocele, Microphthalmia, Intrauterine growth retardation OMIM:611134
Cerebrooculonasal Syndrome
Anophthalmia OMIM:605627
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:618804
Microgastria-Limb Reduction Defects Association
Anophthalmia OMIM:156810
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Intrauterine growth retardation, Microphthalmia OMIM:600123
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Umbilical hernia, Lens coloboma OMIM:618914
Monosomy 18P
Microphthalmia ORPHA:1598
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia OMIM:609053
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Microphthalmia OMIM:614083
Fetal Alcohol Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1915
Joubert Syndrome 14
Microphthalmia OMIM:614424
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1352
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Microphthalmia ORPHA:2728
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos OMIM:610758
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:564
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:494344
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:251230
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Spondyloepiphyseal Dysplasia, Nishimura Type
Microphthalmia ORPHA:163649
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia ORPHA:2505
Moebius Syndrome
Microphthalmia OMIM:157900
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Marden-Walker Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:248700
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Refsum Disease
Microphthalmia ORPHA:773
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Charge Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:138
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Focal Dermal Hypoplasia
Aniridia, Umbilical hernia, Microphthalmia, Spina bifida occulta, Anophthalmia, Myelomeningocele OMIM:305600
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Kapur-Toriello Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:244300
Fraser Syndrome 1
Myelomeningocele, Bilateral microphthalmos, Anophthalmia OMIM:219000
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Micro Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:2510
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Papillorenal Syndrome
Microphthalmia OMIM:120330
Fraser Syndrome
Myelomeningocele, Microphthalmia, Umbilical hernia, Anophthalmia ORPHA:2052
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Microphthalmia, Syndromic 2
Phthisis bulbi, Microphthalmia, Umbilical hernia, Anophthalmia OMIM:300166
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Cat Eye Syndrome
Microphthalmia OMIM:115470
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia ORPHA:3301
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Umbilical hernia ORPHA:369891
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Oculo-Palato-Cerebral Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:2714
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Joubert Syndrome 2
Microphthalmia OMIM:608091
Isolated Arrhinia
Microphthalmia ORPHA:1134
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Microphthalmia OMIM:603467
Mosaic Trisomy 9
Intrauterine growth retardation, Spina bifida, Microphthalmia ORPHA:99776
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Galloway-Mowat Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:617729
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Microphthalmia With Limb Anomalies
True anophthalmia, Microphthalmia ORPHA:1106
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Charge Syndrome
Microphthalmia, Umbilical hernia, Anophthalmia OMIM:214800
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Branchiooculofacial Syndrome
Intrauterine growth retardation, Microphthalmia, Branchial anomaly, Anophthalmia OMIM:113620
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Frontorhiny
Microphthalmia ORPHA:391474
Hallermann-Streiff Syndrome
Spina bifida, Microphthalmia OMIM:234100
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Cohen Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:193
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia, Spina bifida occulta OMIM:607323
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:364577
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation OMIM:251300
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Microphthalmia OMIM:227645
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation OMIM:223370
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Cousin Syndrome
Microphthalmia OMIM:260660
Jacobsen Syndrome
Macular hypoplasia, Microphthalmia, Intrauterine growth retardation OMIM:147791
Pelvis-Shoulder Dysplasia
Spina bifida, Bilateral microphthalmos ORPHA:2839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Focal Dermal Hypoplasia
Hypoplasia of the iris, Spina bifida, Microphthalmia, Umbilical hernia ORPHA:2092
Trisomy 18
Intrauterine growth retardation, Spina bifida, Microphthalmia ORPHA:3380
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Steinfeld Syndrome
Microphthalmia OMIM:184705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Fryns Syndrome
Microphthalmia ORPHA:2059
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
1Q21.1 Microdeletion Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:250989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Microphthalmia OMIM:236670
Basal Cell Nevus Syndrome
Spina bifida, Microphthalmia OMIM:109400
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Pallister-Hall Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:146510
Monosomy 13Q14
Intrauterine growth retardation, Microphthalmia ORPHA:1587
Incontinentia Pigmenti
Umbilical hernia, Microphthalmia, Spina bifida occulta ORPHA:464
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Mosaic Variegated Aneuploidy Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1052
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Intrauterine growth retardation, Microphthalmia OMIM:616975
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation OMIM:133540
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Optic nerve hypoplasia, Microphthalmia ORPHA:508498
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Umbilical hernia ORPHA:2166
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Treacher-Collins Syndrome
Branchial fistula, Microphthalmia ORPHA:861
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Aicardi Syndrome
Spina bifida, Microphthalmia OMIM:304050
Histiocytoid Cardiomyopathy
Congenital aphakia, Microphthalmia ORPHA:137675
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Trichothiodystrophy
Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia ORPHA:33364
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Fanconi Anemia
Spina bifida, Aplasia/Hypoplasia of the iris, Umbilical hernia, Microphthalmia, Intrauterine grow... ORPHA:84
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Bartsocas-Papas Syndrome 1
Intrauterine growth retardation, Microphthalmia OMIM:263650
Holoprosencephaly 2
Microphthalmia OMIM:157170
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Myhre Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:139210
Meckel Syndrome, Type 1
Intrauterine growth retardation, Large placenta, Microphthalmia OMIM:249000
Aicardi Syndrome
Microphthalmia ORPHA:50
Roberts Syndrome
Microphthalmia, Severe intrauterine growth retardation ORPHA:3103
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
22Q11.2 Deletion Syndrome
Spina bifida, Umbilical hernia, Meningocele, Microphthalmia, Intrauterine growth retardation, Occ... ORPHA:567
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Buphthalmos, Microphthalmia OMIM:253280
Mend Syndrome
Microphthalmia ORPHA:401973
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Microphthalmia, Intrauterine growth retardation, Small placenta OMIM:256520
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Optic nerve hypoplasia, Bilateral microphthalmos ORPHA:468631
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Autosomal Dominant Kenny-Caffey Syndrome
Intrauterine growth retardation, Bilateral microphthalmos ORPHA:93325
Monosomy 9P
Microphthalmia ORPHA:261112
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia, Umbilical hernia ORPHA:534
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Witteveen-Kolk Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:613406
Fontaine Progeroid Syndrome
Intrauterine growth retardation, Microphthalmia, Umbilical hernia OMIM:612289
Holoprosencephaly 7
Bilateral microphthalmos OMIM:610828
Cockayne Syndrome
Microphthalmia ORPHA:191
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Fryns Syndrome
Microphthalmia OMIM:229850
Hydrolethalus Syndrome 1
Intrauterine growth retardation, Microphthalmia OMIM:236680
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:3472
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:649
Holoprosencephaly 1
Microphthalmia OMIM:236100
Pallister-Hall Syndrome
Intrauterine growth retardation, Microphthalmia, Umbilical hernia ORPHA:672
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Severe intrauterine growth retardation OMIM:268300
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia ORPHA:261537
Mowat-Wilson Syndrome
Microphthalmia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia ORPHA:261552
8Q24.3 Microdeletion Syndrome
Branchial cyst, Bilateral microphthalmos, Optic nerve hypoplasia, Spina bifida occulta, Intrauter... ORPHA:508488

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 Ankrd52

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 Ankrd52.

No publications found that use IMPC mice or data for Ankrd52.

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MGI Allele Allele Type Produced
Ankrd52tm78068(L1L2_Bact_P) Targeting vectors
Ankrd52em1(IMPC)J Exon Deletion Mice

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