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Gene: Ms4a4a MGI:3643932

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Gene Summary

Name:
membrane-spanning 4-domains, subfamily A, member 4A
Synonyms:
EG666907

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 System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Ms4a4aem1(IMPC)Mbp HOM Early adult 0.00
enhanced contextual conditioning behavior Ms4a4aem1(IMPC)Mbp HOM Early adult 2.50×10-08
microphthalmia Ms4a4aem1(IMPC)Mbp HOM Early adult 0.00

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.

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Human diseases caused by Ms4a4a 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 Ms4a4a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Nanophthalmos
Microphthalmia ORPHA:35612
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Mmep Syndrome
Microphthalmia ORPHA:3434
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Congenital Toxoplasmosis
Microphthalmia, Cognitive impairment ORPHA:858
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Cofs Syndrome
Microphthalmia ORPHA:1466
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Pierpont Syndrome
Microphthalmia ORPHA:487825
Pierpont Syndrome
Microphthalmia OMIM:602342
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Lissencephaly 8
Microphthalmia OMIM:617255
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Temtamy Syndrome
Microphthalmia ORPHA:1777
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Joubert Syndrome 22
Microphthalmia OMIM:615665
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Progressive neurologic deterioration OMIM:214150
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Cognitive impairment ORPHA:3378
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Dementia, Buphthalmos OMIM:310600
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Attention deficit hyperactivity disorder OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Attention deficit hyperactivity disorder OMIM:617914
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Seckel Syndrome 2
Microphthalmia OMIM:606744
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Myoclonic-Astatic Epilepsy
Microphthalmia, Attention deficit hyperactivity disorder ORPHA:1942
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Attention deficit hyperactivity disorder ORPHA:494344
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Fetal Alcohol Syndrome
Microphthalmia, Cognitive impairment ORPHA:1915
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Joubert Syndrome 37
Microphthalmia OMIM:619185
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Attention deficit hyperactivity disorder ORPHA:404440
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Rodrigues Blindness
Microphthalmia OMIM:268320
Monosomy 18P
Microphthalmia ORPHA:1598
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Temtamy Syndrome
Microphthalmia OMIM:218340
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Moebius Syndrome
Microphthalmia OMIM:157900
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... ORPHA:542323
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
3P25.3 Microdeletion Syndrome
Microphthalmia, Attention deficit hyperactivity disorder ORPHA:435638
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Attention deficit hyperactivity disorder OMIM:620098
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Xeroderma Pigmentosum, Complementation Group D
Mental deterioration, Microphthalmia OMIM:278730
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Refsum Disease
Microphthalmia ORPHA:773
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Joubert Syndrome 14
Microphthalmia OMIM:614424
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
3Q29 Microdeletion Syndrome
Microphthalmia, Attention deficit hyperactivity disorder ORPHA:65286
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Cognitive impairment ORPHA:1236
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Micro Syndrome
Microphthalmia ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia, Cognitive impairment ORPHA:2092
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
1Q21.1 Microdeletion Syndrome
Microphthalmia, Attention deficit hyperactivity disorder ORPHA:250989
Atelis Syndrome 2
Microphthalmia, Attention deficit hyperactivity disorder OMIM:620185
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Incontinentia Pigmenti
Microphthalmia, Attention deficit hyperactivity disorder, Cognitive impairment ORPHA:464
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Frontorhiny
Microphthalmia ORPHA:391474
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Trisomy 18
Microphthalmia, Cognitive impairment ORPHA:3380
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Short attention span OMIM:223370
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Cohen Syndrome
Microphthalmia ORPHA:193
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Joubert Syndrome 2
Microphthalmia OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Holoprosencephaly
Microphthalmia, Anophthalmia, Cognitive impairment ORPHA:2162
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia OMIM:243605
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Papillorenal Syndrome
Microphthalmia OMIM:120330
Fryns Syndrome
Microphthalmia ORPHA:2059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Microphthalmia, Optic nerve hypoplasia OMIM:236670
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Meckel Syndrome 14
Microphthalmia OMIM:619879
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Fanconi Anemia, Complementation Group L
Microphthalmia, Attention deficit hyperactivity disorder OMIM:614083
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Isolated Arrhinia
Microphthalmia ORPHA:1134
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Fanconi Anemia, Complementation Group D2
Microphthalmia, Attention deficit hyperactivity disorder OMIM:227646
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Cousin Syndrome
Microphthalmia OMIM:260660
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Cockayne Syndrome Type 3
Cognitive impairment, Microphthalmia, Progressive neurologic deterioration ORPHA:90324
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia OMIM:147791
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Cat Eye Syndrome
Microphthalmia OMIM:115470
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Attention deficit hyperactivity disorder OMIM:616975
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:508498
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia ORPHA:137675
Steinfeld Syndrome
Microphthalmia OMIM:184705
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia, Attention deficit hyperactivity disorder ORPHA:534
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Cockayne Syndrome
Mental deterioration, Microphthalmia, Cognitive impairment ORPHA:191
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:564
Fraser Syndrome 2
Microphthalmia OMIM:617666
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia OMIM:133540
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Trichothiodystrophy
Bilateral microphthalmos ORPHA:33364
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
22Q11.2 Deletion Syndrome
Microphthalmia, Attention deficit hyperactivity disorder ORPHA:567
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Aicardi Syndrome
Microphthalmia ORPHA:50
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia OMIM:620005
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos OMIM:610828
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Aicardi Syndrome
Microphthalmia OMIM:304050
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:84
Monosomy 9P
Microphthalmia ORPHA:261112
Charge Syndrome
Microphthalmia, Anophthalmia, Attention deficit hyperactivity disorder ORPHA:138
Mend Syndrome
Microphthalmia ORPHA:401973
Fryns Syndrome
Microphthalmia OMIM:229850
Myhre Syndrome
Microphthalmia OMIM:139210
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Roberts Syndrome
Microphthalmia ORPHA:3103
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:468631
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia OMIM:620186
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Microphthalmia, Syndromic 2
Microphthalmia, Phthisis bulbi, Anophthalmia OMIM:300166
Degcags Syndrome
Microphthalmia OMIM:619488
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Attention deficit hyperactivity disorder OMIM:619539
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Monosomy 13Q14
Microphthalmia ORPHA:1587
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:3472
Focal Dermal Hypoplasia
Aniridia, Microphthalmia, Anophthalmia OMIM:305600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Chromosome 13Q14 Deletion Syndrome
Microphthalmia OMIM:613884
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Attention deficit hyperac... ORPHA:649
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Witteveen-Kolk Syndrome
Microphthalmia, Attention deficit hyperactivity disorder OMIM:613406
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Charge Syndrome
Microphthalmia, Anophthalmia, Unilateral microphthalmos OMIM:214800
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Holoprosencephaly 1
Microphthalmia OMIM:236100
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:508488
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
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
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Roberts-Sc Phocomelia Syndrome
Microphthalmia OMIM:268300
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
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800

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 Ms4a4a

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 Ms4a4a.

No publications found that use IMPC mice or data for Ms4a4a.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ms4a4aem1(IMPC)Mbp Intra-exon deletion Mice

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