Gene Summary

Name:
neuron navigator 3
Synonyms:
unc53H3,  9630020C08Rik,  POMFIL1,  4732483H20Rik,  steerin 3,  Pomfil1p

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Nav3em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Nav3em1(IMPC)Mbp HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

Human diseases caused by Nav3 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 Nav3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nanophthalmos 2
Microphthalmia OMIM:609549
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Nanophthalmos
Microphthalmia ORPHA:35612
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Mmep Syndrome
Microphthalmia ORPHA:3434
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microphthalmia, Isolated 8
Microphthalmia, Optic nerve hypoplasia OMIM:615113
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Anterior Segment Dysgenesis 7
Microphthalmia, Buphthalmos OMIM:269400
Cofs Syndrome
Microphthalmia ORPHA:1466
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Pierpont Syndrome
Microphthalmia ORPHA:487825
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Anterior Segment Dysgenesis 5
Microphthalmia, Rieger anomaly, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Pierpont Syndrome
Microphthalmia OMIM:602342
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Anterior Segment Dysgenesis 2
Congenital aphakia, Aniridia, Microphthalmia, Anterior segment of eye aplasia OMIM:610256
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Norrie Disease
Microphthalmia, Hypoplasia of the iris OMIM:310600
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Bilateral microphthalmos, Macular hyp... ORPHA:2334
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Temtamy Syndrome
Microphthalmia ORPHA:1777
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Joubert Syndrome 22
Microphthalmia OMIM:615665
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Congenital Rubella Syndrome
Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:290
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Seckel Syndrome 2
Microphthalmia OMIM:606744
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Trisomy 13
Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris ORPHA:3378
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Rodrigues Blindness
Microphthalmia OMIM:268320
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Monosomy 18P
Microphthalmia ORPHA:1598
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Joubert Syndrome 14
Microphthalmia OMIM:614424
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Joubert Syndrome 37
Microphthalmia OMIM:619185
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
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
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Moebius Syndrome
Microphthalmia OMIM:157900
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos OMIM:600122
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Gracile Bone Dysplasia
Microphthalmia, Aniridia OMIM:602361
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Refsum Disease
Microphthalmia ORPHA:773
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Microphthalmia, Buphthalmos OMIM:616538
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia OMIM:600123
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Buphthalmos ORPHA:91495
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Cat Eye Syndrome
Microphthalmia OMIM:115470
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris OMIM:613001
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Phthisis bulbi, Buphthalmos OMIM:221900
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Micro Syndrome
Microphthalmia ORPHA:2510
Papillorenal Syndrome
Microphthalmia OMIM:120330
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Buphthalmos OMIM:613150
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Frontorhiny
Microphthalmia ORPHA:391474
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Microphthalmia, Syndromic 3
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia OMIM:206900
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Oculoauricular Syndrome
Microphthalmia, Microphakia, Macular hypoplasia, Phthisis bulbi OMIM:612109
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Isolated Arrhinia
Microphthalmia ORPHA:1134
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Joubert Syndrome 2
Microphthalmia OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Pierson Syndrome
Hypoplasia of the ciliary body, Hypoplasia of the iris, Microphthalmia, Rieger anomaly, Macular h... OMIM:609049
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the iris OMIM:251300
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Cousin Syndrome
Microphthalmia OMIM:260660
Cohen Syndrome
Microphthalmia ORPHA:193
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Fryns Syndrome
Microphthalmia ORPHA:2059
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris ORPHA:2092
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia OMIM:243605
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Microphthalmia, Optic nerve hypoplasia, Buphthalmos OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Dubowitz Syndrome
Microphthalmia, Hypoplasia of the iris OMIM:223370
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Incontinentia Pigmenti
Microphthalmia, Hypoplasia of the fovea OMIM:308300
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia OMIM:147791
Trisomy 18
Microphthalmia ORPHA:3380
Holoprosencephaly
Microphthalmia, Anophthalmia ORPHA:2162
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Steinfeld Syndrome
Microphthalmia OMIM:184705
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia OMIM:601186
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:508498
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Basal Cell Nevus Syndrome
Microphthalmia OMIM:109400
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Meckel Syndrome
Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris ORPHA:564
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Histiocytoid Cardiomyopathy
Congenital aphakia, Microphthalmia ORPHA:137675
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Cockayne Syndrome B
Microphthalmia, Hypoplasia of the iris OMIM:133540
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia OMIM:616975
Phace Syndrome
Microphthalmia, Optic nerve hypoplasia, Lens coloboma ORPHA:42775
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Aicardi Syndrome
Microphthalmia ORPHA:50
Trichothiodystrophy
Bilateral microphthalmos ORPHA:33364
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Aicardi Syndrome
Microphthalmia OMIM:304050
Fanconi Anemia
Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:84
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Oculocerebrorenal Syndrome Of Lowe
Microphthalmia, Buphthalmos ORPHA:534
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microphthalmia, Hypoplasia of the retina, Buphthalmos OMIM:253280
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mend Syndrome
Microphthalmia ORPHA:401973
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
22Q11.2 Deletion Syndrome
Microphthalmia ORPHA:567
Myhre Syndrome
Microphthalmia OMIM:139210
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Cockayne Syndrome
Microphthalmia ORPHA:191
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:468631
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Monosomy 9P
Microphthalmia ORPHA:261112
Roberts Syndrome
Microphthalmia ORPHA:3103
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia, Phthisis bulbi OMIM:300166
Degcags Syndrome
Microphthalmia OMIM:619488
Monosomy 13Q14
Microphthalmia ORPHA:1587
Witteveen-Kolk Syndrome
Microphthalmia OMIM:613406
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Focal Dermal Hypoplasia
Microphthalmia, Anophthalmia, Aniridia OMIM:305600
Fryns Syndrome
Microphthalmia OMIM:229850
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Holoprosencephaly 7
Bilateral microphthalmos OMIM:610828
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:3472
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Neuroocular Syndrome
Microphthalmia, Hypoplasia of the fovea, Lens coloboma OMIM:619539
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Charge Syndrome
Microphthalmia, Anophthalmia, Unilateral microphthalmos OMIM:214800
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Norrie Disease
Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris ORPHA:649
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microphthalmia, Hypoplasia of the iris OMIM:175780
Fraser Syndrome 1
Bilateral microphthalmos, Anophthalmia OMIM:219000
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Holoprosencephaly 1
Microphthalmia OMIM:236100
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
Microphthalmia, Anophthalmia OMIM:164210
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Optic nerve hypoplasia 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 Nav3

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 Nav3.

No publications found that use IMPC mice or data for Nav3.

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MGI Allele Allele Type Produced
Nav3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Nav3em1(IMPC)Mbp Exon Deletion Mice, Tissue
Nav3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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