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Gene: Ankrd52 MGI:2444029

Gene Summary

Name:

ankyrin repeat domain 52

Synonyms:

G431002C21Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
anophthalmia	Ankrd52^em1(IMPC)J	HOM	E18.5	0.00
microphthalmia	Ankrd52^em1(IMPC)J	HOM	E18.5	0.00
abnormal embryo size	Ankrd52^em1(IMPC)J	HOM	E18.5	0.00
abnormal embryo size	Ankrd52^em1(IMPC)J	HET	E18.5	0.00
abnormal vocalization	Ankrd52^em1(IMPC)J	HET	Early adult	2.12×10^-10
preweaning lethality, complete penetrance	Ankrd52^em1(IMPC)J	HOM	Early adult	0.00
increased aggression	Ankrd52^em1(IMPC)J	HET	Early adult	0.000100
decreased grip strength	Ankrd52^em1(IMPC)J	HET	Early adult	3.11×10^-05
decreased bone mineral content	Ankrd52^em1(IMPC)J	HET	Early adult	7.15×10^-05

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Morphology Embryo E18.5

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2 Images

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Combined SHIRPA and Dysmorphology

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Auditory Brain Stem Response

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

8 Images

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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.

Human diseases associated with Ankrd52 (0 diseases)
Human diseases predicted to be associated with Ankrd52 (364 diseases)

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	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
Ankrd52^{tm78068(L1L2_Bact_P)}		Targeting vectors
Ankrd52^em1(IMPC)J	Exon Deletion	Mice

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Gene: Ankrd52 MGI:2444029

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E18.5

Combined SHIRPA and Dysmorphology

Auditory Brain Stem Response

Human diseases caused by Ankrd52 mutations

Histopathology

IMPC related publications

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Access Data Release 15.1 Data