banner
Genes Phenotypes Help, News, Blog

Gene: Ankrd52 MGI:2444029

Log in to follow

Gene Summary

Name:
ankyrin repeat domain 52
Synonyms:
G431002C21Rik

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
microphthalmia Ankrd52em1(IMPC)J HOM 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 2.92×10-06
preweaning lethality, complete penetrance Ankrd52em1(IMPC)J HOM   Early adult 0.00
anophthalmia Ankrd52em1(IMPC)J HOM E18.5 0.00
decreased grip strength Ankrd52em1(IMPC)J HET   Early adult 1.84×10-05
decreased bone mineral content Ankrd52em1(IMPC)J HET Early adult 6.30×10-05
abnormal vocalization Ankrd52em1(IMPC)J HET Early adult 2.42×10-10
abnormal embryo size Ankrd52em1(IMPC)J HET E18.5 0.00

Download data as:  TSV  XLS

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

lacZ Expression

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

View images
Download thumbnail Download
MicroCT E18.5

Embryo reconstruction

7 Images

View images
Combined SHIRPA and Dysmorphology

Images

1 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

View 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
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
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
Anophthalmia, Anencephaly OMIM:619452
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Nanophthalmos
Microphthalmia ORPHA:35612
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Intrauterine growth retardation OMIM:616570
Meckel Syndrome, Type 8
Encephalocele, Microphthalmia, Occipital encephalocele, Anophthalmia OMIM:613885
Fanconi Anemia, Complementation Group J
Microphthalmia, Intrauterine growth retardation OMIM:609054
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Mmep Syndrome
Microphthalmia ORPHA:3434
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida ORPHA:1104
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele ORPHA:1528
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele ORPHA:324416
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:2470
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Hydrolethalus
Microphthalmia, Anophthalmia, Anencephaly ORPHA:2189
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:3378
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Intrauterine growth retardation OMIM:616171
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Cat-Eye Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:195
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Cofs Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1466
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Hartsfield Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation ORPHA:2117
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Joubert Syndrome 22
Microphthalmia, Intrauterine growth retardation OMIM:615665
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:48431
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Congenital Toxoplasmosis
Microphthalmia, Intrauterine growth retardation ORPHA:858
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:603194
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Trisomy 1Q
Anophthalmia ORPHA:261344
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Pierpont Syndrome
Microphthalmia ORPHA:487825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Spina bifida, Intrauterine growth retardation ORPHA:3412
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... ORPHA:232
Pierpont Syndrome
Microphthalmia OMIM:602342
Temtamy Syndrome
Microphthalmia ORPHA:1777
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation ORPHA:290
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Intrauterine growth retardation OMIM:610756
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Meckel Syndrome, Type 4
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:611134
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Ring Chromosome 10 Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1438
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos OMIM:601186
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Seckel Syndrome 2
Microphthalmia OMIM:606744
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation ORPHA:85284
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Intrauterine growth retardation OMIM:300863
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Umbilical hernia, Anophthalmia ORPHA:1101
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta OMIM:169550
Fibular Hemimelia
Anophthalmia, Spina bifida ORPHA:93323
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:617914
Rodrigues Blindness
Microphthalmia OMIM:268320
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation ORPHA:228390
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Optic nerve hypoplasia OMIM:605627
Holoprosencephaly
Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia ORPHA:2162
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Intrauterine growth retardation ORPHA:163966
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
Sandestig-Stefanova Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:618804
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia OMIM:615636
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Meckel Syndrome
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:564
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia ORPHA:370959
Joubert Syndrome 37
Microphthalmia OMIM:619185
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:494344
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Fetal Alcohol Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1915
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Intrauterine growth retardation OMIM:616395
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:609053
Monosomy 18P
Microphthalmia ORPHA:1598
Temtamy Syndrome
Microphthalmia OMIM:218340
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia ORPHA:1791
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1352
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Intrauterine growth retardation ORPHA:2728
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Moebius Syndrome
Microphthalmia OMIM:157900
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Joubert Syndrome 14
Encephalocele, Microphthalmia, Meningocele OMIM:614424
Marden-Walker Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:248700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Fraser Syndrome 1
Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos OMIM:219000
Frontorhiny
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele ORPHA:391474
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia ORPHA:2505
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Microphthalmia, Syndromic 2
Microphthalmia, Phthisis bulbi, Anophthalmia, Umbilical hernia OMIM:300166
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Charge Syndrome
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:138
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos OMIM:610758
Refsum Disease
Microphthalmia ORPHA:773
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Umbilical hernia, Bilateral microphthalmos ORPHA:369891
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Micro Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:2510
Kapur-Toriello Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:244300
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Fraser Syndrome
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia ORPHA:2052
Focal Dermal Hypoplasia
Anophthalmia, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina bifida occulta OMIM:305600
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Microcephaly-Micromelia Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:251230
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia, Intrauterine growth retardation OMIM:613451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Adams-Oliver Syndrome
Encephalocele, Microphthalmia ORPHA:974
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:2714
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Microphthalmia, Anencephaly OMIM:619148
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Fanconi Anemia, Complementation Group F
Microphthalmia, Intrauterine growth retardation OMIM:603467
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:614643
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Curry-Jones Syndrome
Occipital meningocele, Microphthalmia, Lipomyelomeningocele OMIM:601707
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia OMIM:253800
Mosaic Trisomy 9
Microphthalmia, Spina bifida, Intrauterine growth retardation ORPHA:99776
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Galloway-Mowat Syndrome 3
Microphthalmia, Intrauterine growth retardation OMIM:617729
Pseudotrisomy 13 Syndrome
Encephalocele, Microphthalmia OMIM:264480
Charge Syndrome
Microphthalmia, Anophthalmia, Umbilical hernia, Unilateral microphthalmos OMIM:214800
Isolated Arrhinia
Microphthalmia ORPHA:1134
Cohen Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:193
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Meckel Syndrome 14
Microphthalmia, Occipital encephalocele OMIM:619879
Joubert Syndrome 2
Encephalocele, Microphthalmia OMIM:608091
Branchiooculofacial Syndrome
Microphthalmia, Branchial anomaly, Anophthalmia, Intrauterine growth retardation OMIM:113620
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation OMIM:251300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia OMIM:236670
Pelvis-Shoulder Dysplasia
Hydranencephaly, Bilateral microphthalmos, Spina bifida ORPHA:2839
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
1Q21.1 Microdeletion Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:250989
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:364577
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Duane-Radial Ray Syndrome
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia OMIM:607323
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia OMIM:243605
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida ORPHA:2092
Trisomy 18
Microphthalmia, Anencephaly, Spina bifida, Intrauterine growth retardation ORPHA:3380
Fanconi Anemia, Complementation Group C
Microphthalmia, Intrauterine growth retardation OMIM:227645
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia, Intrauterine growth retardation OMIM:147791
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Papillorenal Syndrome
Microphthalmia OMIM:120330
Cousin Syndrome
Hydranencephaly, Microphthalmia OMIM:260660
Cat Eye Syndrome
Microphthalmia, Umbilical hernia OMIM:115470
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Fryns Syndrome
Microphthalmia ORPHA:2059
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation OMIM:223370
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microphthalmia OMIM:616300
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Fanconi Anemia, Complementation Group L
Microphthalmia, Intrauterine growth retardation OMIM:614083
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Hallermann-Streiff Syndrome
Microphthalmia, Spina bifida OMIM:234100
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Incontinentia Pigmenti
Microphthalmia, Spina bifida occulta, Umbilical hernia ORPHA:464
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Microphthalmia, Umbilical hernia ORPHA:2166
Pallister-Hall Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:146510
Atelis Syndrome 2
Microphthalmia OMIM:620185
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Steinfeld Syndrome
Microphthalmia OMIM:184705
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Monosomy 13Q14
Microphthalmia, Intrauterine growth retardation ORPHA:1587
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1052
Craniofacial Microsomia 1
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly OMIM:164210
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Spina bifida ORPHA:508498
Treacher-Collins Syndrome
Encephalocele, Microphthalmia, Branchial fistula ORPHA:861
Fraser Syndrome 2
Microphthalmia OMIM:617666
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:620005
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia ORPHA:137675
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Intrauterine growth retardation OMIM:616975
Bartsocas-Papas Syndrome 1
Microphthalmia, Intrauterine growth retardation OMIM:263650
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation OMIM:133540
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Holoprosencephaly 7
Occipital meningocele, Microphthalmia, Bilateral microphthalmos OMIM:610828
Trichothiodystrophy
Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation ORPHA:33364
Aicardi Syndrome
Microphthalmia, Spina bifida OMIM:304050
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Roberts Syndrome
Microphthalmia, Severe intrauterine growth retardation ORPHA:3103
Fanconi Anemia
Spina bifida, Aplasia/Hypoplasia of the iris, Umbilical hernia, Microphthalmia, Intrauterine grow... ORPHA:84
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine growth retarda... OMIM:249000
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Aicardi Syndrome
Microphthalmia ORPHA:50
22Q11.2 Deletion Syndrome
Spina bifida, Meningocele, Occipital myelomeningocele, Umbilical hernia, Microphthalmia, Intraute... ORPHA:567
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Intrauterine growth retardation OMIM:608670
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Microphthalmia, Intrauterine growth retardation OMIM:620186
Myhre Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:139210
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
Mend Syndrome
Microphthalmia ORPHA:401973
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:468631
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia, Umbilical hernia ORPHA:534
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Autosomal Dominant Kenny-Caffey Syndrome
Intrauterine growth retardation, Bilateral microphthalmos ORPHA:93325
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Umbilical hernia OMIM:613884
Monosomy 9P
Microphthalmia ORPHA:261112
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalmia, Intrauterine... OMIM:256520
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia OMIM:100300
Fryns Syndrome
Microphthalmia OMIM:229850
Fontaine Progeroid Syndrome
Microphthalmia, Umbilical hernia, Intrauterine growth retardation OMIM:612289
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Degcags Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:619488
Cockayne Syndrome
Microphthalmia ORPHA:191
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Umbilical hernia OMIM:619539
Hydrolethalus Syndrome 1
Microphthalmia, Anencephaly, Intrauterine growth retardation OMIM:236680
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:3472
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Holoprosencephaly 1
Microphthalmia OMIM:236100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Witteveen-Kolk Syndrome
Microphthalmia, Intrauterine growth retardation, Branchial fistula OMIM:613406
8Q24.3 Microdeletion Syndrome
Branchial cyst, Optic nerve hypoplasia, Bilateral microphthalmos, Intrauterine growth retardation... ORPHA:508488
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:649
Pallister-Hall Syndrome
Microphthalmia, Umbilical hernia, Intrauterine growth retardation ORPHA:672
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Frontal encephalocele, Severe intrauterine growth retardation OMIM:268300
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
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

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.

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
Ankrd52em1(IMPC)J Exon Deletion Mice
Ankrd52tm78068(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter