Gene Summary

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

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
microphthalmia Nav3em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Nav3em1(IMPC)Mbp HOM Early adult 0.00

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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

30 Images

X-ray

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
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
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos 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
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia 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
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Mmep Syndrome
Microphthalmia ORPHA:3434
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Optic nerve hypoplasia, Unilateral microph... ORPHA:137902
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Microphthalmia OMIM:612109
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Cofs Syndrome
Microphthalmia ORPHA:1466
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Pierpont Syndrome
Microphthalmia ORPHA:487825
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Microphthalmia OMIM:604229
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Pierpont Syndrome
Microphthalmia OMIM:602342
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Norrie Disease
Hypoplasia of the iris, Microphthalmia OMIM:310600
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of th... ORPHA:2334
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Temtamy Syndrome
Microphthalmia ORPHA:1777
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Joubert Syndrome 22
Microphthalmia OMIM:615665
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Seckel Syndrome 2
Microphthalmia OMIM:606744
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Rodrigues Blindness
Microphthalmia OMIM:268320
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Joubert Syndrome 14
Microphthalmia OMIM:614424
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Spondyloepiphyseal Dysplasia, Nishimura Type
Microphthalmia ORPHA:163649
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos OMIM:600122
Moebius Syndrome
Microphthalmia OMIM:157900
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Refsum Disease
Microphthalmia ORPHA:773
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:206900
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia OMIM:600123
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Marden-Walker Syndrome
Microphthalmia OMIM:248700
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Papillorenal Syndrome
Microphthalmia OMIM:120330
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia ORPHA:3301
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Joubert Syndrome 2
Microphthalmia OMIM:608091
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Micro Syndrome
Microphthalmia ORPHA:2510
Cat Eye Syndrome
Microphthalmia OMIM:115470
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Frontorhiny
Microphthalmia ORPHA:391474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Isolated Arrhinia
Microphthalmia ORPHA:1134
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Cousin Syndrome
Microphthalmia OMIM:260660
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia OMIM:607323
Cohen Syndrome
Microphthalmia ORPHA:193
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Fryns Syndrome
Microphthalmia ORPHA:2059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia OMIM:223370
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Microphthalmia OMIM:236670
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Jacobsen Syndrome
Macular hypoplasia, Microphthalmia OMIM:147791
Holoprosencephaly
Microphthalmia, Anophthalmia ORPHA:2162
Trisomy 18
Microphthalmia ORPHA:3380
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Steinfeld Syndrome
Microphthalmia OMIM:184705
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Hemifacial Microsomia
Microphthalmia, Anophthalmia OMIM:164210
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Basal Cell Nevus Syndrome
Microphthalmia OMIM:109400
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia OMIM:601186
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:508498
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:564
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Histiocytoid Cardiomyopathy
Congenital aphakia, Microphthalmia ORPHA:137675
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia OMIM:133540
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia OMIM:616975
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Trichothiodystrophy
Bilateral microphthalmos ORPHA:33364
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Aicardi Syndrome
Microphthalmia ORPHA:50
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:84
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Aicardi Syndrome
Microphthalmia OMIM:304050
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Buphthalmos, Microphthalmia OMIM:253280
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Holoprosencephaly 2
Microphthalmia OMIM:157170
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Mend Syndrome
Microphthalmia ORPHA:401973
Monosomy 9P
Microphthalmia ORPHA:261112
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia ORPHA:534
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Myhre Syndrome
Microphthalmia OMIM:139210
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Microphthalmia With Limb Anomalies
True anophthalmia, Microphthalmia ORPHA:1106
Cockayne Syndrome
Microphthalmia ORPHA:191
22Q11.2 Deletion Syndrome
Microphthalmia ORPHA:567
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Monosomy 13Q14
Microphthalmia ORPHA:1587
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Bilateral microphthalmos ORPHA:468631
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Roberts Syndrome
Microphthalmia ORPHA:3103
Fryns Syndrome
Microphthalmia OMIM:229850
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Witteveen-Kolk Syndrome
Microphthalmia OMIM:613406
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Focal Dermal Hypoplasia
Aniridia, Microphthalmia, Anophthalmia OMIM:305600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Microphthalmia, Syndromic 2
Phthisis bulbi, Microphthalmia, Anophthalmia OMIM:300166
Holoprosencephaly 7
Bilateral microphthalmos OMIM:610828
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:3472
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Charge Syndrome
Microphthalmia, Anophthalmia OMIM:214800
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:649
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Fraser Syndrome 1
Bilateral microphthalmos, Anophthalmia OMIM:219000
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
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
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Bilateral microphthalmos 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
Nav3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nav3em1(IMPC)Mbp Exon Deletion Mice, Tissue

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