Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

sine oculis-related homeobox 3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Six3 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.

The table below shows human diseases predicted to be associated to Six3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorior... OMIM:611638
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Hydranencephaly, Holoprosencephaly OMIM:617967
Holoprosencephaly OMIM:600674
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microphthalmia, Anophthalmia, Chorioretinal coloboma OMIM:616428
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Agenesis of corpus callosum, Microphthalmia OMIM:164180
Holoprosencephaly 11
Holoprosencephaly OMIM:614226
Meckel Syndrome, Type 8
Encephalocele, Anophthalmia, Microphthalmia OMIM:613885
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Anophthalmia, Coloboma, Cyclopia, Microphthalmia, Anosmia OMIM:147250
Hydrocephalus, Abnormality of the sense of smell, Anencephaly, Arrhinencephaly, Anophthalmia, Mic... ORPHA:2189
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Anophthalmia Plus Syndrome
Iris coloboma, Spina bifida, Anophthalmia ORPHA:1104
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Holoprosencephaly OMIM:601357
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Anophthalmia, Iris coloboma, Microphthalmia, Agenesis of corpus... ORPHA:77298
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Holoprosencephaly ORPHA:2570
Holoprosencephaly ORPHA:83463
Distal Monosomy 13Q
Encephalocele, Anencephaly, Holoprosencephaly ORPHA:1590
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Hartsfield Syndrome
Encephalocele, Lobar holoprosencephaly ORPHA:2117
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly OMIM:610680
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:93274
Ring Chromosome 21 Syndrome
Holoprosencephaly ORPHA:1445
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Meningocele, Encephalocele ORPHA:1908
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Anophthalmia ORPHA:411986
Distal Monosomy 7Q36
Holoprosencephaly ORPHA:1636
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly OMIM:615433
Lambotte Syndrome
Semilobar holoprosencephaly OMIM:245552
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Iris coloboma, Microphthalmia, Agenesis of corpus callosum, Chorioretinal coloboma ORPHA:139471
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly ORPHA:2165
Monosomy 18P
Holoprosencephaly ORPHA:1598
Trisomy 13
Iris coloboma, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
Walker-Warburg Syndrome
Hydrocephalus, Anophthalmia, Iris coloboma, Microphthalmia, Agenesis of corpus callosum ORPHA:899
Holoprosencephaly 4
Semilobar holoprosencephaly OMIM:142946
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly ORPHA:250999
Trisomy 1Q
Hydrocephalus, Anophthalmia, Agenesis of corpus callosum ORPHA:261344
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Anophthalmia, Arrhinencephaly, Microphthalmia, Spina bifida ORPHA:3412
Coach Syndrome 2
Hydrocephalus, Coloboma, Molar tooth sign on MRI, Agenesis of corpus callosum, Chorioretinal colo... OMIM:619111
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly ORPHA:2163
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly ORPHA:990
Agnathia-Otocephaly Complex
Holoprosencephaly OMIM:202650
Hydrocephalus, Microphthalmia, Holoprosencephaly, Hyposmia, Anophthalmia, Iris coloboma, Spinal d... ORPHA:2162
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Molar tooth sign on MRI OMIM:614120
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Coloboma OMIM:614465
Joubert Syndrome 21
Elongated superior cerebellar peduncle, Occipital encephalocele, Anophthalmia, Hypoplasia of the ... OMIM:615636
Holoprosencephaly 7
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Semilobar holoprosencephaly OMIM:610828
49,Xxxxy Syndrome
Arrhinencephaly, Holoprosencephaly ORPHA:96264
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia, Coloboma OMIM:610125
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly OMIM:612530
Cockayne Syndrome Type 2
Delayed eruption of primary teeth, Anophthalmia ORPHA:90322
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:264480
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Encephalocele... ORPHA:63259
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Cerebrooculonasal Syndrome
Hydrocephalus, Optic nerve hypoplasia, Anophthalmia, Iris coloboma, Encephalocele OMIM:605627
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Failure of eruption of permanent teeth, Hyposmia, Anophthalmia, Iris coloboma, Microphthalmia, An... ORPHA:2250
Hydrocephalus, Holoprosencephaly OMIM:612651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:253800
Meckel Syndrome, Type 4
Hydrocephalus, Microphthalmia, Anencephaly, Meningocele, Encephalocele, Molar tooth sign on MRI OMIM:611134
Holoprosencephaly 14
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly OMIM:619895
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2356
Microform Holoprosencephaly
Holoprosencephaly ORPHA:280200
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Holoprosencephaly ORPHA:556955
16P13.11 Microdeletion Syndrome
Holoprosencephaly ORPHA:261236
Meckel Syndrome 14
Occipital encephalocele, Holoprosencephaly OMIM:619879
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalocele ORPHA:280195
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Anophthalmia, Coloboma, Microphthalmia, Optic nerve aplasia, Agenesis of ... OMIM:206900
Meckel Syndrome
Hydrocephalus, Anencephaly, Anophthalmia, Microphthalmia, Encephalocele, Aplasia/Hypoplasia of th... ORPHA:564
Fibular Hemimelia
Spina bifida, Anophthalmia ORPHA:93323
Microgastria-Limb Reduction Defects Association
Agenesis of corpus callosum, Arrhinencephaly, Anophthalmia OMIM:156810
Trisomy 18
Spina bifida, Anencephaly, Holoprosencephaly ORPHA:3380
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Lobar holoprosencephaly OMIM:614701
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly OMIM:269860
Proboscis Lateralis
Holoprosencephaly, Optic nerve hypoplasia, Anophthalmia, Optic disc coloboma, Iris coloboma, Cycl... ORPHA:141099
Isolated Exencephaly
Holoprosencephaly ORPHA:563612
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Coloboma OMIM:615877
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Holoprosencephaly 9
Hydrocephalus, Holoprosencephaly, Optic nerve hypoplasia, Anophthalmia, Partial agenesis of the c... OMIM:610829
Charge Syndrome
Aqueductal stenosis, Holoprosencephaly, Anophthalmia, Delayed eruption of teeth, Iris coloboma, M... ORPHA:138
Cockayne Syndrome Type 1
Delayed eruption of primary teeth, Anophthalmia ORPHA:90321
Holoprosencephaly 3
Holoprosencephaly OMIM:142945
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Aniridia, Umbilical hernia ORPHA:1101
Jacobsen Syndrome
Hydrocephalus, Holoprosencephaly OMIM:147791
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2166
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Focal Dermal Hypoplasia
Myelomeningocele, Hydrocephalus, Anophthalmia, Delayed eruption of teeth, Spina bifida occulta, I... OMIM:305600
Microgastria-Limb Reduction Defect Syndrome
Agenesis of corpus callosum, Arrhinencephaly, Anophthalmia, Microphthalmia ORPHA:2538
Steinfeld Syndrome
Holoprosencephaly OMIM:184705
Pallister-Hall Syndrome
Holoprosencephaly OMIM:146510
Halperin-Birk Syndrome
Semilobar holoprosencephaly OMIM:618651
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Mosaic Variegated Aneuploidy Syndrome
Holoprosencephaly ORPHA:1052
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Anophthalmia, Agenesis of corpus callosum, Microphthalmia ORPHA:2556
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum ORPHA:264200
Smith-Lemli-Opitz Syndrome
Holoprosencephaly ORPHA:818
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Persistence of primary teeth, Anophthalmia, Delayed erup... OMIM:300166
Fraser Syndrome 1
Myelomeningocele, Hydrocephalus, Anophthalmia, Bilateral microphthalmos, Encephalocele OMIM:219000
Charge Syndrome
Holoprosencephaly, Retinal coloboma, Anophthalmia, Arrhinencephaly, Unilateral microphthalmos, Co... OMIM:214800
Microphthalmia With Limb Anomalies
Hydrocephalus, Arrhinencephaly, True anophthalmia, Death in infancy, Microphthalmia ORPHA:1106
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly ORPHA:3186
Fraser Syndrome
Myelomeningocele, Anophthalmia, Death in infancy, Umbilical hernia, Microphthalmia, Encephalocele ORPHA:2052
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Holoprosencephaly OMIM:270400
Holoprosencephaly 2
Semilobar holoprosencephaly, Alobar holoprosencephaly, Holoprosencephaly OMIM:157170
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Semilobar holoprosencephaly OMIM:301043
Monosomy 13Q14
Holoprosencephaly ORPHA:1587
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Lobar holoprosencephaly ORPHA:468631
Genitourinary And/Or Brain Malformation Syndrome
Holoprosencephaly OMIM:618820
Chromosome 13Q14 Deletion Syndrome
Holoprosencephaly OMIM:613884
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Hartsfield Syndrome
Lobar holoprosencephaly OMIM:615465
Branchiooculofacial Syndrome
Retinal coloboma, Anophthalmia, Iris coloboma, Branchial anomaly, Microphthalmia OMIM:113620
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Holoprosencephaly OMIM:615948
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Semilobar holoprosencephaly OMIM:301044
Lateral ventricle dilatation, Abnormal midbrain morphology, Atrophy/Degeneration affecting the br... ORPHA:356961
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Ring Chromosome 7 Syndrome
Holoprosencephaly ORPHA:1449
Pallister-Hall Syndrome
Arrhinencephaly, Holoprosencephaly ORPHA:672
Holoprosencephaly 1
Ethmocephaly, Alobar holoprosencephaly OMIM:236100
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly OMIM:107480
Craniofacial Microsomia
Hydrocephalus, Anophthalmia, Branchial anomaly, Microphthalmia, Occipital encephalocele, Agenesis... OMIM:164210
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Semilobar holoprosencephaly OMIM:129900
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia, Coloboma OMIM:607932
Combined Pituitary Hormone Deficiencies, Genetic Forms
Holoprosencephaly ORPHA:95494
Duplication Of The Pituitary Gland
Encephalocele, Agenesis of corpus callosum, Abnormal midbrain morphology ORPHA:314621
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Microphthalmia, Syndromic 1
Anophthalmia, Optic disc coloboma, Iris coloboma, Microphthalmia, Ciliary body coloboma, Choriore... OMIM:309800
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Hyposmia, Abnormal brainstem MRI signal intensity, Abnormal medulla obl... ORPHA:68
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal pons morphology, Abnormal midbrain morphology ORPHA:79139
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Abnormal midbrain morphology, Hypoplasia of the brainstem ORPHA:444072
Semilobar Holoprosencephaly
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Cyclopia, Agenesis of corpus ca... ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Cyclopia, Agenesis of corpus ca... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Cyclopia, Agenesis of corpus ca... ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Cyclopia, Agenesis of corpus ca... ORPHA:93924
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987
Agenesis of corpus callosum OMIM:269160


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 Six3

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 Six3.

No publications found that use IMPC mice or data for Six3.

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