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
abnormal embryo size Ankrd52em1(IMPC)J HET E18.5 0.00
abnormal embryo size Ankrd52em1(IMPC)J HOM E18.5 0.00
increased leukocyte cell number Ankrd52em1(IMPC)J HET Early adult 6.76×10-06
decreased bone mineral content Ankrd52em1(IMPC)J HET Early adult 6.26×10-05
anophthalmia Ankrd52em1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Ankrd52em1(IMPC)J HOM   Early adult 0.00
decreased grip strength Ankrd52em1(IMPC)J HET   Early adult 2.05×10-05
microphthalmia Ankrd52em1(IMPC)J HOM E18.5 0.00
abnormal vocalization Ankrd52em1(IMPC)J HET Early adult 2.41×10-10

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

MicroCT E18.5

Embryo reconstruction

7 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
Anophthalmia, Microphthalmia ORPHA:85275
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia 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
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia 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
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Nanophthalmos
Microphthalmia ORPHA:35612
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Meckel Syndrome, Type 8
Encephalocele, Anophthalmia, Microphthalmia OMIM:613885
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Microphthalmia OMIM:609054
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Mmep Syndrome
Microphthalmia ORPHA:3434
Adams-Oliver Syndrome 4
Umbilical hernia, Microphthalmia OMIM:615297
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia OMIM:616171
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Microphthalmia OMIM:218670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia ORPHA:1104
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Craniotelencephalic Dysplasia
Frontal encephalocele, Septo-optic dysplasia, Arrhinencephaly, Microphthalmia ORPHA:1528
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Matthew-Wood Syndrome
Intrauterine growth retardation, Anophthalmia, Microphthalmia ORPHA:2470
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Hydrolethalus
Anencephaly, Anophthalmia, Arrhinencephaly, Microphthalmia ORPHA:2189
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Trisomy 13
Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Cat-Eye Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:195
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Cofs Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1466
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Myopia 27, Autosomal Dominant
Increased axial length of the globe OMIM:618827
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Hartsfield Syndrome
Encephalocele, Intrauterine growth retardation, Microphthalmia ORPHA:2117
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microph... ORPHA:137902
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Microphthalmia OMIM:611561
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:48431
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Congenital Toxoplasmosis
Intrauterine growth retardation, Microphthalmia ORPHA:858
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Meningocele, Encephalocele, Intrauterine growth retardation OMIM:603194
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Pierpont Syndrome
Microphthalmia ORPHA:487825
Trisomy 1Q
Anophthalmia ORPHA:261344
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Vacterl With Hydrocephalus
Anophthalmia, Arrhinencephaly, Microphthalmia, Spina bifida, Intrauterine growth retardation ORPHA:3412
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia OMIM:610756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia ORPHA:290
Pierpont Syndrome
Microphthalmia OMIM:602342
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Temtamy Syndrome
Microphthalmia ORPHA:1777
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Autosomal Dominant Keratitis
Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, Macular hypoplasia, A... ORPHA:2334
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos OMIM:601186
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Meningocele, Encephalocele, Intrauterine growth retardation OMIM:611134
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia OMIM:136760
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Joubert Syndrome 21
Occipital encephalocele, Anophthalmia OMIM:615636
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Bresek Syndrome
Optic nerve hypoplasia, Intrauterine growth retardation, Microphthalmia ORPHA:85284
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Microphthalmia OMIM:300863
Seckel Syndrome 2
Microphthalmia OMIM:606744
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Anterior Segment Dysgenesis 2
Congenital aphakia, Anterior segment of eye aplasia, Aniridia, Microphthalmia OMIM:610256
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Aniridia, Umbilical hernia ORPHA:1101
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Bilateral microphthalmos OMIM:600122
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Optic nerve aplasia, Anophthalmia, Microphthalmia OMIM:206900
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Microphthalmia OMIM:169550
Fibular Hemimelia
Spina bifida, Anophthalmia ORPHA:93323
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Joubert Syndrome 14
Encephalocele, Microphthalmia OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Intrauterine growth retardation, Microphthalmia ORPHA:228390
Rodrigues Blindness
Microphthalmia OMIM:268320
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Microgastria-Limb Reduction Defects Association
Anophthalmia, Arrhinencephaly OMIM:156810
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Microphthalmia ORPHA:163966
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos, Ethmoidal encephalocele OMIM:607597
Holoprosencephaly
Microphthalmia, Anophthalmia, Spinal dysraphism, Branchial anomaly, Encephalocele ORPHA:2162
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Encephalocele, Anophthalmia OMIM:605627
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:618804
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Lens coloboma, Microphthalmia OMIM:618914
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Meckel Syndrome
Anencephaly, Anophthalmia, Microphthalmia, Encephalocele, Aplasia/Hypoplasia of the iris ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Intrauterine growth retardation, Microphthalmia OMIM:600123
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Arrhinencephaly, Microphthalmia ORPHA:2538
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Fetal Alcohol Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1915
Joubert Syndrome 37
Microphthalmia OMIM:619185
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Intrauterine growth retardation, Microphthalmia OMIM:609053
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:494344
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia ORPHA:1791
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Occipital encephalocele, Microphthalmia ORPHA:370959
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Microphthalmia ORPHA:2728
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Microphthalmia OMIM:616395
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1352
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:251230
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Norrie Disease
Buphthalmos, Hypoplasia of the iris, Microphthalmia OMIM:310600
Moebius Syndrome
Microphthalmia OMIM:157900
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
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
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Multiple Benign Circumferential Skin Creases On Limbs
Umbilical hernia, Microphthalmia ORPHA:2505
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Refsum Disease
Microphthalmia ORPHA:773
Frontorhiny
Encephalocele, Cranium bifidum occultum, Basal encephalocele, Microphthalmia ORPHA:391474
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos OMIM:610758
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Microphthalmia ORPHA:2556
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Microphthalmia, Syndromic 2
Phthisis bulbi, Anophthalmia, Umbilical hernia, Microphthalmia OMIM:300166
Fraser Syndrome 1
Myelomeningocele, Encephalocele, Anophthalmia, Bilateral microphthalmos OMIM:219000
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Charge Syndrome
Intrauterine growth retardation, Anophthalmia, Microphthalmia ORPHA:138
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Kapur-Toriello Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:244300
Focal Dermal Hypoplasia
Myelomeningocele, Anophthalmia, Spina bifida occulta, Umbilical hernia, Microphthalmia, Aniridia OMIM:305600
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Micro Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:2510
Fraser Syndrome
Myelomeningocele, Anophthalmia, Umbilical hernia, Microphthalmia, Encephalocele ORPHA:2052
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Umbilical hernia ORPHA:369891
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Nance-Horan Syndrome
Microphthalmia OMIM:302350
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Macular hypoplasia, Phthisis bulbi, Microphthalmia ORPHA:91495
Adams-Oliver Syndrome
Encephalocele, Microphthalmia ORPHA:974
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Frontonasal Dysplasia 2
Encephalocele, Intrauterine growth retardation, Microphthalmia OMIM:613451
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Oculo-Palato-Cerebral Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:2714
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia ORPHA:3301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Encephalocele, Microphthalmia OMIM:613150
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Anencephaly, Microphthalmia OMIM:619148
Microphthalmia With Limb Anomalies
True anophthalmia, Arrhinencephaly, Microphthalmia ORPHA:1106
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Microphthalmia OMIM:603467
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Galloway-Mowat Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:617729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Encephalocele, Microphthalmia OMIM:614643
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Microphthalmia, Spina bifida occulta, Macular hypoplasia OMIM:612109
Isolated Arrhinia
Microphthalmia ORPHA:1134
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Mosaic Trisomy 9
Spina bifida, Intrauterine growth retardation, Microphthalmia ORPHA:99776
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Pseudotrisomy 13 Syndrome
Encephalocele, Microphthalmia OMIM:264480
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Charge Syndrome
Anophthalmia, Arrhinencephaly, Unilateral microphthalmos, Umbilical hernia, Microphthalmia OMIM:214800
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia OMIM:619879
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Cousin Syndrome
Hydranencephaly, Microphthalmia OMIM:260660
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Branchiooculofacial Syndrome
Intrauterine growth retardation, Anophthalmia, Branchial anomaly, Microphthalmia OMIM:113620
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Cohen Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:193
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:364577
Joubert Syndrome 2
Encephalocele, Microphthalmia OMIM:608091
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Pelvis-Shoulder Dysplasia
Spina bifida, Bilateral microphthalmos, Hydranencephaly ORPHA:2839
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia OMIM:251300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Microphthalmia, Buphthalmos, Optic nerve hypoplasia, Meningoencephalocele, Occipital encephalocele OMIM:236670
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia OMIM:253800
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microphthalmia OMIM:616300
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Spina bifida occulta, Microphthalmia OMIM:607323
1Q21.1 Microdeletion Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:250989
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia OMIM:607932
Trisomy 18
Intrauterine growth retardation, Spina bifida, Anencephaly, Microphthalmia ORPHA:3380
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Microphthalmia OMIM:227645
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Focal Dermal Hypoplasia
Spina bifida, Hypoplasia of the iris, Umbilical hernia, Microphthalmia ORPHA:2092
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Pierson Syndrome
Microphthalmia, Rieger anomaly, Hypoplasia of the iris, Hypoplasia of the ciliary body, Macular h... OMIM:609049
Jacobsen Syndrome
Macular hypoplasia, Intrauterine growth retardation, Microphthalmia OMIM:147791
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Cat Eye Syndrome
Umbilical hernia, Microphthalmia OMIM:115470
Dubowitz Syndrome
Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia OMIM:223370
Fryns Syndrome
Microphthalmia ORPHA:2059
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Papillorenal Syndrome
Microphthalmia OMIM:120330
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Incontinentia Pigmenti
Spina bifida occulta, Umbilical hernia, Microphthalmia ORPHA:464
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Microphthalmia OMIM:614083
Steinfeld Syndrome
Microphthalmia OMIM:184705
Hallermann-Streiff Syndrome
Spina bifida, Microphthalmia OMIM:234100
Monosomy 9Q22.3
Umbilical hernia, Microphthalmia ORPHA:77301
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Basal Cell Nevus Syndrome
Spina bifida, Microphthalmia OMIM:109400
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Pallister-Hall Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:146510
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Monosomy 13Q14
Intrauterine growth retardation, Microphthalmia ORPHA:1587
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Umbilical hernia, Microphthalmia ORPHA:2166
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Spina bifida, Microphthalmia ORPHA:508498
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:620005
Mosaic Variegated Aneuploidy Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1052
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Craniofacial Microsomia
Occipital encephalocele, Anophthalmia, Branchial anomaly, Microphthalmia OMIM:164210
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Microphthalmia ORPHA:861
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Intrauterine growth retardation, Microphthalmia OMIM:616975
Cockayne Syndrome B
Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia OMIM:133540
Histiocytoid Cardiomyopathy
Congenital aphakia, Microphthalmia ORPHA:137675
Aicardi Syndrome
Spina bifida, Microphthalmia OMIM:304050
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Microphthalmia ORPHA:42775
Trichothiodystrophy
Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia ORPHA:33364
Bartsocas-Papas Syndrome 1
Intrauterine growth retardation, Microphthalmia OMIM:263650
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Roberts Syndrome
Severe intrauterine growth retardation, Microphthalmia ORPHA:3103
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Fanconi Anemia
Umbilical hernia, Microphthalmia, Aplasia/Hypoplasia of the iris, Intrauterine growth retardation... ORPHA:84
22Q11.2 Deletion Syndrome
Arrhinencephaly, Meningocele, Umbilical hernia, Microphthalmia, Spina bifida, Intrauterine growth... ORPHA:567
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Microphthalmia OMIM:608670
Aicardi Syndrome
Microphthalmia ORPHA:50
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Microphthalmia, Intrauterine growth retardation, Large plac... OMIM:249000
Neu-Laxova Syndrome 1
Short umbilical cord, Hydranencephaly, Small placenta, Microphthalmia, Spina bifida, Intrauterine... OMIM:256520
Myhre Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:139210
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Intrauterine growth retardation, Bilateral microphthalmos ORPHA:468631
Mend Syndrome
Microphthalmia ORPHA:401973
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Microphthalmia OMIM:613884
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Buphthalmos, Microphthalmia OMIM:253280
Microphthalmia, Syndromic 1
Anophthalmia, Microphthalmia OMIM:309800
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia OMIM:100300
Autosomal Dominant Kenny-Caffey Syndrome
Intrauterine growth retardation, Bilateral microphthalmos ORPHA:93325
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Umbilical hernia, Microphthalmia ORPHA:534
Monosomy 9P
Microphthalmia ORPHA:261112
Fryns Syndrome
Arrhinencephaly, Microphthalmia OMIM:229850
Hydrolethalus Syndrome 1
Intrauterine growth retardation, Anencephaly, Arrhinencephaly, Microphthalmia OMIM:236680
Degcags Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:619488
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Fontaine Progeroid Syndrome
Intrauterine growth retardation, Umbilical hernia, Microphthalmia OMIM:612289
Cockayne Syndrome
Microphthalmia ORPHA:191
Holoprosencephaly 7
Bilateral microphthalmos OMIM:610828
Yunis-Varon Syndrome
Bilateral microphthalmos, Arrhinencephaly, Microphthalmia ORPHA:3472
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Neuroocular Syndrome
Umbilical hernia, Hypoplasia of the fovea, Lens coloboma, Microphthalmia OMIM:619539
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Witteveen-Kolk Syndrome
Branchial fistula, Intrauterine growth retardation, Microphthalmia OMIM:613406
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Pallister-Hall Syndrome
Intrauterine growth retardation, Arrhinencephaly, Umbilical hernia, Microphthalmia ORPHA:672
Norrie Disease
Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:649
Holoprosencephaly 1
Microphthalmia OMIM:236100
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Holoprosencephaly 2
Microphthalmia OMIM:157170
Roberts-Sc Phocomelia Syndrome
Severe intrauterine growth retardation, Frontal encephalocele, Microphthalmia 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
Optic nerve hypoplasia, Spina bifida occulta, Bilateral microphthalmos, Branchial cyst, 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
Ankrd52em1(IMPC)J Exon Deletion Mice
Ankrd52tm78068(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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