Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 retina morphology Nav3em1(IMPC)Mbp HOM   Early adult 8.65×10-05
abnormal eye morphology Nav3em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Nav3em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

10 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
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Inferior chorioretinal coloboma OMIM:614497
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma OMIM:616428
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma OMIM:611638
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... ORPHA:83461
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Gombo Syndrome
Microphthalmia OMIM:233270
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Microphthalmia, Isolated 6
Microphthalmia, Retinal fold OMIM:613517
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting OMIM:609218
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Retinal dystrophy, Chorioretinal coloboma ORPHA:231736
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Chorioretinal coloboma OMIM:120433
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr... OMIM:212550
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Macular atrophy, Optic atrophy, Microphthalmia, Retinopathy OMIM:616171
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Microphthalmia, Optic atrophy, Chorioretinal coloboma ORPHA:1473
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid ORPHA:209956
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Retinal dysplasia ORPHA:324416
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Microphthalmia, Syndromic 13
Microphthalmia, Chorioretinal coloboma OMIM:300915
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Optic atrophy OMIM:274270
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Cofs Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Mmep Syndrome
Microphthalmia ORPHA:3434
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Norrie Disease
Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp... OMIM:310600
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:195
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia OMIM:615665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Microphthalmia, Optic nerve hypoplasia OMIM:615181
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Abnormal vitreous humor morphology, Exudative retinopathy, Exudative vitreore... ORPHA:2788
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Retinal dystrophy OMIM:613155
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Microphthalmia... OMIM:152950
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Optic disc pallor OMIM:613730
Lissencephaly 8
Microphthalmia, Optic atrophy OMIM:617255
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:1777
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system OMIM:257910
Nance-Horan Syndrome
Retinal detachment, Microphthalmia ORPHA:627
Warburg Micro Syndrome 1
Microphthalmia, Optic atrophy OMIM:600118
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Microphthalmia, Macular coloboma OMIM:615145
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Optic disc pallor OMIM:300887
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Microphthalmia OMIM:613153
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Pierpont Syndrome
Microphthalmia ORPHA:487825
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormality of retinal pigmentation ORPHA:290
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Retinal dystrophy, Chorioretinal coloboma ORPHA:139471
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal... OMIM:612109
Spondylo-Ocular Syndrome
Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Pierpont Syndrome
Microphthalmia OMIM:602342
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Unilateral microphthalmos OMIM:615085
Walker-Warburg Syndrome
Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Optic atrophy, Abno... ORPHA:899
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Retinal degeneration, Abnormally large globe OMIM:615249
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Retinal nonattachment, Micr... OMIM:221900
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Microphthalmia, Hypopigmentation of the fundus ORPHA:163649
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
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
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Trisomy 13
Anophthalmia, Abnormal retinal vascular morphology, Optic atrophy, Aplasia/Hypoplasia of the iris... ORPHA:3378
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma OMIM:169550
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Microphthalmia, Optic atrophy, Optic nerve hypoplasia ORPHA:370959
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Retinal pigment epithelial mottling OMIM:614105
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Otodental Syndrome
Microphthalmia, Lens coloboma, Retinal coloboma ORPHA:2791
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Optic atrophy OMIM:612379
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Adams-Oliver Syndrome 2
Microphthalmia, Optic atrophy OMIM:614219
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
Refsum Disease
Retinopathy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:773
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma OMIM:218340
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Optic atrophy, Chorioretinal coloboma ORPHA:494344
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma ORPHA:2328
Pierson Syndrome
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... OMIM:609049
Seckel Syndrome 2
Microphthalmia OMIM:606744
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma ORPHA:1553
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Retinal dystrophy OMIM:616538
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Micro Syndrome
Microphthalmia, Optic atrophy, Retinal coloboma, Abnormality of retinal pigmentation ORPHA:2510
Baraitser-Winter Syndrome 1
Microphthalmia, Chorioretinal coloboma OMIM:243310
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
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
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Optic atrophy, Pigmentary retinopathy OMIM:610651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp... OMIM:614643
Warburg Micro Syndrome 4
Microphthalmia, Optic atrophy OMIM:615663
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Joubert Syndrome 37
Microphthalmia OMIM:619185
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Joubert Syndrome 14
Microphthalmia, Optic atrophy, Morning glory anomaly OMIM:614424
Rodrigues Blindness
Microphthalmia OMIM:268320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Microphthalmia, Optic atrophy, Retinal dysplasia OMIM:253800
Monosomy 18P
Microphthalmia ORPHA:1598
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Retinopathy ORPHA:2505
Microphthalmia, Anophthalmia ORPHA:2189
Ritscher-Schinzel Syndrome 3
Microphthalmia, Chorioretinal coloboma OMIM:619135
Oculofaciocardiodental Syndrome
Retinal detachment, Microphthalmia ORPHA:2712
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Retinal coloboma OMIM:618571
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... ORPHA:2526
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system ORPHA:2714
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Warburg Micro Syndrome 3
Microphthalmia, Optic atrophy OMIM:614222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Buphthalmos, Retinal ... OMIM:236670
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Optic atrophy OMIM:234050
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Phace Association
Microphthalmia, Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia OMIM:606519
Moebius Syndrome
Microphthalmia OMIM:157900
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Abnormal retinal morphology OMIM:610758
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:3301
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma OMIM:244300
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Warburg Micro Syndrome 2
Microphthalmia, Optic atrophy OMIM:614225
Joubert Syndrome 2
Microphthalmia, Optic disc coloboma, Retinal dystrophy, Chorioretinal coloboma OMIM:608091
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Retinal vascular proliferation, Optic atrophy, Retin... OMIM:308300
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
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
Microphthalmia, Lenz Type
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma ORPHA:568
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Cohen Syndrome
Microphthalmia, Chorioretinal dystrophy, Optic atrophy, Abnormality of retinal pigmentation ORPHA:193
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Microphthalmia, Papilledema OMIM:127000
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
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor... ORPHA:50
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Optic atrophy OMIM:618727
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Pigmentary retinopathy OMIM:614230
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Incontinentia Pigmenti
Retinal detachment, Abnormal chorioretinal morphology, Retinal vascular proliferation, Retinal he... ORPHA:464
Steinfeld Syndrome
Microphthalmia, Retinal coloboma OMIM:184705
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasia, Microph... OMIM:253280
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Abnormal optic nerve morphology ORPHA:3412
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Stromme Syndrome
Retinal vascular tortuosity, Microphthalmia, Optic nerve hypoplasia OMIM:243605
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia, Retinal coloboma OMIM:607323
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Microphthalmia OMIM:259770
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Retinal coloboma ORPHA:2839
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Atelis Syndrome 2
Microphthalmia, Remnants of the hyaloid vascular system, Vitreous hemorrhage OMIM:620185
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Optic atrophy OMIM:251300
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Microphthalmia, Retina... ORPHA:90324
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Jacobsen Syndrome
Microphthalmia, Optic atrophy, Macular hypoplasia, Chorioretinal coloboma OMIM:147791
Aicardi Syndrome
Retinal detachment, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Microphthalmia OMIM:304050
Mycophenolate Mofetil Embryopathy
Microphthalmia, Chorioretinal coloboma ORPHA:268249
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Vi... ORPHA:2556
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Premature Aging Syndrome, Penttinen Type
Microphthalmia, Hypermyelinated retinal nerve fibers OMIM:601812
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia, Chorioretinal coloboma ORPHA:2092
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Optic atrophy OMIM:201180
Anophthalmia, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Retinopathy ORPHA:2162
Hallermann-Streiff Syndrome
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma OMIM:234100
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
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Optic... ORPHA:191
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc coloboma, Optic disc hypoplasia, Chorioretinal coloboma ORPHA:959
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
2Q31.1 Microdeletion Syndrome
Microphthalmia, Optic disc coloboma ORPHA:251014
Cat Eye Syndrome
Microphthalmia, Chorioretinal coloboma OMIM:115470
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Microphthalmia ORPHA:391474
Monosomy 9Q22.3
Microphthalmia, Retinopathy ORPHA:77301
Trisomy 18
Microphthalmia, Abnormality of retinal pigmentation ORPHA:3380
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Rod-cone dystrophy OMIM:223370
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Meckel Syndrome
Anophthalmia, Abnormal chorioretinal morphology, Optic atrophy, Aplasia/Hypoplasia of the iris, M... ORPHA:564
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Abnormal optic disc morphology, Retinal coloboma, Optic nerve hypoplasia ORPHA:508498
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
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
Fryns Syndrome
Microphthalmia ORPHA:2059
Meckel Syndrome 14
Microphthalmia OMIM:619879
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Histiocytoid Cardiomyopathy
Microphthalmia, Optic atrophy, Congenital aphakia ORPHA:137675
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Pigmentary retinopathy OMIM:309801
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Phace Syndrome
Microphthalmia, Retinal vascular malformation, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Macular degeneration, Bilateral microphthalmos, Retinal degeneration ORPHA:33364
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia, Optic atrophy, Pigmentary retinopathy OMIM:133540
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Isolated Arrhinia
Microphthalmia ORPHA:1134
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
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
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Papilledema, Bilateral microphthalmos ORPHA:93325
Microphthalmia With Limb Anomalies
Microphthalmia, Optic atrophy, True anophthalmia ORPHA:1106
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Optic atrophy OMIM:616975
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:141099
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Retinoblastoma, Chorioretinal coloboma OMIM:613884
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Phthisis bulbi, Microp... OMIM:300166
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Bilateral microphthalmos, Optic nerve hypoplasia, Attenuation of retinal blood... ORPHA:468631
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Monosomy 13Q14
Microphthalmia, Retinoblastoma ORPHA:1587
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia, Chorioretinal dysplasia ORPHA:534
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
22Q11.2 Deletion Syndrome
Retinal arteriolar tortuosity, Microphthalmia, Optic atrophy ORPHA:567
Fraser Syndrome 2
Microphthalmia OMIM:617666
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal arteriolar tortuosity, Retinal hemorrhage, Hypoplasia of the iris, Peripapillary atrophy,... OMIM:175780
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Charge Syndrome
Microphthalmia, Anophthalmia, Optic atrophy, Chorioretinal coloboma ORPHA:138
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Optic disc coloboma OMIM:620186
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia OMIM:620005
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
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:84
Monosomy 9P
Microphthalmia ORPHA:261112
Mend Syndrome
Microphthalmia ORPHA:401973
Focal Dermal Hypoplasia
Anophthalmia, Optic atrophy, Chorioretinal coloboma, Aniridia, Microphthalmia OMIM:305600
Fryns Syndrome
Microphthalmia OMIM:229850
Myhre Syndrome
Microphthalmia OMIM:139210
Roberts Syndrome
Microphthalmia ORPHA:3103
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Remnants of the hyaloid vascular system OMIM:619539
Degcags Syndrome
Microphthalmia OMIM:619488
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Holoprosencephaly 2
Microphthalmia, Remnants of the hyaloid vascular system, Chorioretinal coloboma OMIM:157170
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:3472
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Charge Syndrome
Microphthalmia, Anophthalmia, Retinal coloboma, Unilateral microphthalmos OMIM:214800
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia, Retinal dystrophy OMIM:607932
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia, Retinal coloboma OMIM:113620
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia ORPHA:508488
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Mowat-Wilson Syndrome
Microphthalmia, Chorioretinal coloboma OMIM:235730
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Witteveen-Kolk Syndrome
Microphthalmia OMIM:613406
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Holoprosencephaly 1
Microphthalmia OMIM:236100
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
Townes-Brocks Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:857
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Optic atrophy, Retinal coloboma ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Retinal coloboma ORPHA:261537
Mowat-Wilson Syndrome
Microphthalmia, Retinal coloboma ORPHA:2152
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia, Chorioretinal coloboma, Optic disc coloboma OMIM:309800
Roberts-Sc Phocomelia Syndrome
Microphthalmia OMIM:268300
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210


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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