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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
enhanced contextual conditioning behavior Ms4a4aem1(IMPC)Mbp HOM Early adult 2.50×10-08
microphthalmia Ms4a4aem1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology 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
Anophthalmia, Microphthalmia ORPHA:85275
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Gombo Syndrome
Microphthalmia OMIM:233270
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Nanophthalmos
Microphthalmia ORPHA:35612
Nanophthalmos 4
Microphthalmia OMIM:615972
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Cutaneous abs... OMIM:618944
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
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
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... OMIM:618394
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Congenital Toxoplasmosis
Cognitive impairment, Microphthalmia ORPHA:858
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Cofs Syndrome
Microphthalmia ORPHA:1466
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos... ORPHA:158057
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Pierpont Syndrome
Microphthalmia ORPHA:487825
Pierpont Syndrome
Microphthalmia OMIM:602342
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
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, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga... ORPHA:79124
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Temtamy Syndrome
Microphthalmia ORPHA:1777
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia OMIM:601794
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Lissencephaly 8
Microphthalmia OMIM:617255
Joubert Syndrome 22
Microphthalmia OMIM:615665
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Cerebrooculofacioskeletal Syndrome 1
Progressive neurologic deterioration, Microphthalmia OMIM:214150
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Trisomy 13
Aplasia/Hypoplasia of the iris, Cognitive impairment, Anophthalmia, Microphthalmia ORPHA:3378
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Norrie Disease
Dementia, Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Attention deficit hyperactivity disorder, Microphthalmia OMIM:152950
Microcephaly 20, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Myoclonic-Astatic Epilepsy
Attention deficit hyperactivity disorder, Microphthalmia ORPHA:1942
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Sweet Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:3243
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Rere-Related Neurodevelopmental Syndrome
Attention deficit hyperactivity disorder, Microphthalmia ORPHA:494344
Seckel Syndrome 2
Microphthalmia OMIM:606744
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Fetal Alcohol Syndrome
Cognitive impairment, Microphthalmia ORPHA:1915
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:542323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Attention deficit hyperactivity disorder, Microphthalmia ORPHA:404440
Joubert Syndrome 37
Microphthalmia OMIM:619185
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Rodrigues Blindness
Microphthalmia OMIM:268320
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration ORPHA:85435
Monosomy 18P
Microphthalmia ORPHA:1598
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Temtamy Syndrome
Microphthalmia OMIM:218340
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Moebius Syndrome
Microphthalmia OMIM:157900
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Microphthalmia ORPHA:435638
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration ORPHA:319552
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Attention deficit hyperactivity disorder, Microphthalmia OMIM:620098
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration ORPHA:85410
Xeroderma Pigmentosum, Complementation Group D
Mental deterioration, Microphthalmia OMIM:278730
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
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
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Joubert Syndrome 14
Microphthalmia OMIM:614424
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
3Q29 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Microphthalmia ORPHA:65286
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia ORPHA:3301
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Cognitive impairment, Microphthalmia ORPHA:1236
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
Martsolf Syndrome 1
Microphthalmia OMIM:212720
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Micro Syndrome
Microphthalmia ORPHA:2510
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
1Q21.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Microphthalmia ORPHA:250989
Focal Dermal Hypoplasia
Hypoplasia of the iris, Cognitive impairment, Microphthalmia ORPHA:2092
Incontinentia Pigmenti
Attention deficit hyperactivity disorder, Cognitive impairment, Microphthalmia ORPHA:464
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Microphthalmia OMIM:620185
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Frontorhiny
Microphthalmia ORPHA:391474
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Dubowitz Syndrome
Hypoplasia of the iris, Short attention span, Microphthalmia OMIM:223370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia OMIM:612109
Trisomy 18
Cognitive impairment, Microphthalmia ORPHA:3380
Cohen Syndrome
Microphthalmia ORPHA:193
Joubert Syndrome 2
Microphthalmia OMIM:608091
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Microphthalmia, Syndromic 3
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:206900
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia OMIM:607323
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Holoprosencephaly
Cognitive impairment, Anophthalmia, Microphthalmia ORPHA:2162
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Fryns Syndrome
Microphthalmia ORPHA:2059
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
Papillorenal Syndrome
Microphthalmia OMIM:120330
Meckel Syndrome 14
Microphthalmia OMIM:619879
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Microphthalmia OMIM:236670
Fanconi Anemia, Complementation Group L
Attention deficit hyperactivity disorder, Microphthalmia OMIM:614083
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Isolated Arrhinia
Microphthalmia ORPHA:1134
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Cockayne Syndrome Type 3
Progressive neurologic deterioration, Cognitive impairment, Microphthalmia ORPHA:90324
Fanconi Anemia, Complementation Group D2
Attention deficit hyperactivity disorder, Microphthalmia OMIM:227646
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Cousin Syndrome
Microphthalmia OMIM:260660
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Jacobsen Syndrome
Macular hypoplasia, Microphthalmia OMIM:147791
Cat Eye Syndrome
Microphthalmia OMIM:115470
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Attention deficit hyperactivity disorder, Microphthalmia OMIM:616975
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:508498
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Microphthalmia ORPHA:2538
Histiocytoid Cardiomyopathy
Congenital aphakia, Microphthalmia ORPHA:137675
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Cockayne Syndrome
Mental deterioration, Cognitive impairment, Microphthalmia ORPHA:191
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Attention deficit hyperactivity disorder, Microphthalmia ORPHA:534
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia OMIM:133540
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Steinfeld Syndrome
Microphthalmia OMIM:184705
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:564
Fraser Syndrome 2
Microphthalmia OMIM:617666
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Trichothiodystrophy
Bilateral microphthalmos ORPHA:33364
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Phace Syndrome
Lens coloboma, Optic nerve hypoplasia, Microphthalmia ORPHA:42775
Aicardi Syndrome
Microphthalmia ORPHA:50
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia OMIM:620005
Microphthalmia With Limb Anomalies
True anophthalmia, Microphthalmia ORPHA:1106
Traboulsi Syndrome
Microphthalmia OMIM:601552
22Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Microphthalmia ORPHA:567
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia OMIM:610828
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:84
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Aicardi Syndrome
Microphthalmia OMIM:304050
Monosomy 9P
Microphthalmia ORPHA:261112
Mend Syndrome
Microphthalmia ORPHA:401973
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Microphthalmia ORPHA:2556
Charge Syndrome
Attention deficit hyperactivity disorder, Anophthalmia, Microphthalmia ORPHA:138
Myhre Syndrome
Microphthalmia OMIM:139210
Fryns Syndrome
Microphthalmia OMIM:229850
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:468631
Roberts Syndrome
Microphthalmia ORPHA:3103
Microphthalmia, Syndromic 2
Phthisis bulbi, Anophthalmia, Microphthalmia OMIM:300166
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Degcags Syndrome
Microphthalmia OMIM:619488
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia OMIM:620186
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Hypoplasia of the retina, Microphthalmia OMIM:253280
Neuroocular Syndrome 1
Hypoplasia of the fovea, Attention deficit hyperactivity disorder, Lens coloboma, Microphthalmia OMIM:619539
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Monosomy 13Q14
Microphthalmia ORPHA:1587
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:3472
Focal Dermal Hypoplasia
Aniridia, Anophthalmia, Microphthalmia OMIM:305600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Chromosome 13Q14 Deletion Syndrome
Microphthalmia OMIM:613884
Norrie Disease
Hypoplasia of the iris, Attention deficit hyperactivity disorder, Aplasia/Hypoplasia of the lens,... ORPHA:649
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Witteveen-Kolk Syndrome
Attention deficit hyperactivity disorder, Microphthalmia OMIM:613406
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Charge Syndrome
Unilateral microphthalmos, Anophthalmia, Microphthalmia OMIM:214800
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Holoprosencephaly 1
Microphthalmia OMIM:236100
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia OMIM:607932
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:508488
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Branchiooculofacial Syndrome
Anophthalmia, Microphthalmia OMIM:113620
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Holoprosencephaly 2
Microphthalmia OMIM:157170
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
Anophthalmia, Microphthalmia OMIM:164210
Microphthalmia, Syndromic 1
Anophthalmia, Microphthalmia 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

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
Ms4a4aem1(IMPC)Mbp Intra-exon deletion Mice

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