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
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia... OMIM:611638
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosenceph... OMIM:609637
Holoprosencephaly OMIM:600674
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Holoprosencephaly OMIM:617967
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma OMIM:616428
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Holoprosencephaly 11
Holoprosencephaly OMIM:614226
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia, Agenesis of corpus callosum OMIM:164180
Microphthalmia, Syndromic 12
Neonatal death, Microphthalmia, Anophthalmia OMIM:615524
Solitary Median Maxillary Central Incisor
Anophthalmia, Anosmia, Coloboma, Holoprosencephaly, Microphthalmia, Cyclopia OMIM:147250
Meckel Syndrome, Type 8
Encephalocele, Microphthalmia, Occipital encephalocele, Anophthalmia OMIM:613885
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Anophthalmia Plus Syndrome
Anophthalmia, Iris coloboma, Spina bifida ORPHA:1104
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum, Iris... ORPHA:77298
Anophthalmia, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Microphthalmia, Agen... ORPHA:2189
Holoprosencephaly ORPHA:83463
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Anterior encephalocele OMIM:601357
Hartsfield Syndrome
Encephalocele, Lobar holoprosencephaly ORPHA:2117
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly ORPHA:93274
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Anophthalmia ORPHA:411986
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Holoprosencephaly ORPHA:2570
Distal Deletion 13Q
Encephalocele, Anencephaly, Holoprosencephaly ORPHA:1590
Ring Chromosome 21 Syndrome
Holoprosencephaly ORPHA:1445
Distal Monosomy 7Q36
Holoprosencephaly ORPHA:1636
Microphthalmia, Isolated 8
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia OMIM:615113
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly OMIM:615433
Lambotte Syndrome
Semilobar holoprosencephaly OMIM:245552
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Agenesis of corpus callosum, Iris coloboma ORPHA:139471
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly ORPHA:2165
Monosomy 18P
Holoprosencephaly ORPHA:1598
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Walker-Warburg Syndrome
Anophthalmia, Hydrocephalus, Microphthalmia, Agenesis of corpus callosum, Iris coloboma ORPHA:899
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Iris coloboma ORPHA:3378
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Holoprosencephaly 4
Semilobar holoprosencephaly OMIM:142946
Agnathia-Otocephaly Complex
Holoprosencephaly OMIM:202650
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly ORPHA:250999
Trisomy 1Q
Hydrocephalus, Anophthalmia, Agenesis of corpus callosum ORPHA:261344
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Coach Syndrome 2
Hydrocephalus, Coloboma, Chorioretinal coloboma, Molar tooth sign on MRI, Agenesis of corpus call... OMIM:619111
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Microphthalmia ORPHA:3412
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly ORPHA:990
Encephalocele, Anophthalmia, Hydrocephalus, Anosmia, Spinal dysraphism, Branchial anomaly, Holopr... ORPHA:2162
Joubert Syndrome 15
Molar tooth sign on MRI, Coloboma, Exencephaly OMIM:614464
Joubert Syndrome 16
Molar tooth sign on MRI, Coloboma, Encephalocele OMIM:614465
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly ORPHA:2163
Microphthalmia, Syndromic 5
Microphthalmia, Coloboma, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly OMIM:612530
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Cockayne Syndrome Type 2
Anophthalmia, Delayed eruption of primary teeth ORPHA:90322
49,Xxxxy Syndrome
Holoprosencephaly ORPHA:96264
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Holoprosencephaly OMIM:253800
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Holoprosencephaly OMIM:264480
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Iris coloboma OMIM:605627
Pancreatic Agenesis-Holoprosencephaly Syndrome
Holoprosencephaly, Semilobar holoprosencephaly ORPHA:556955
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Molar tooth sign on MRI, Microphthalmia OMIM:611134
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Failure of eruption of permanent teeth, Anosmia, Hyposmia, Microphthalmia, Iris col... ORPHA:2250
Holoprosencephaly 14
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Alobar holoprosencephaly OMIM:619895
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Hypoplasia of the brainstem, Elongated supe... OMIM:615636
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Arachnoid Cyst
Encephalocele, Hydrocephalus, Holoprosencephaly ORPHA:2356
Microform Holoprosencephaly
Holoprosencephaly ORPHA:280200
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalocele ORPHA:280195
16P13.11 Microdeletion Syndrome
Holoprosencephaly ORPHA:261236
Meckel Syndrome 14
Occipital encephalocele, Holoprosencephaly OMIM:619879
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Microphthalmia, Agenesis of ... OMIM:206900
Meckel Syndrome
Encephalocele, Anophthalmia, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Aplasia/Hypopla... ORPHA:564
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly OMIM:269860
Hydrocephalus, Holoprosencephaly OMIM:612651
Fibular Hemimelia
Anophthalmia, Spina bifida ORPHA:93323
Trisomy 18
Anencephaly, Holoprosencephaly, Spina bifida ORPHA:3380
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Holoprosencephaly, Chorioretinal colob... ORPHA:141099
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Lobar holoprosencephaly OMIM:614701
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Coloboma, Anophthalmia OMIM:615877
Isolated Exencephaly
Holoprosencephaly ORPHA:563612
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Partial agenesis of the corpus callosum, Hol... OMIM:610829
Cockayne Syndrome Type 1
Anophthalmia, Delayed eruption of primary teeth ORPHA:90321
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Microphthalmia, Syndromic 9
Neonatal death, Anophthalmia, Bilateral microphthalmos OMIM:601186
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hydrocephalus, Holoprosencephaly ORPHA:2166
Holoprosencephaly 3
Holoprosencephaly OMIM:142945
Charge Syndrome
Delayed eruption of teeth, Anophthalmia, Aqueductal stenosis, Anosmia, Holoprosencephaly, Chorior... ORPHA:138
Jacobsen Syndrome
Hydrocephalus, Holoprosencephaly OMIM:147791
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Umbilical hernia, Anophthalmia ORPHA:1101
Pallister-Hall Syndrome
Holoprosencephaly OMIM:146510
Focal Dermal Hypoplasia
Delayed eruption of teeth, Anophthalmia, Hydrocephalus, Myelomeningocele, Umbilical hernia, Chori... OMIM:305600
Steinfeld Syndrome
Holoprosencephaly OMIM:184705
Halperin-Birk Syndrome
Semilobar holoprosencephaly OMIM:618651
Hartsfield Syndrome
Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly OMIM:615465
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Mosaic Variegated Aneuploidy Syndrome
Holoprosencephaly ORPHA:1052
Fraser Syndrome 1
Encephalocele, Anophthalmia, Hydrocephalus, Myelomeningocele, Bilateral microphthalmos OMIM:219000
Smith-Lemli-Opitz Syndrome
Holoprosencephaly ORPHA:818
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum ORPHA:264200
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Hydrocephalus, Anophthalmia, Agenesis of corpus callosum ORPHA:2556
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Anophthalmia, Remnants of the hyaloid vascular system, Persistence of ... OMIM:300166
Fraser Syndrome
Encephalocele, Death in infancy, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia ORPHA:2052
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Semilobar holoprosencephaly, Lobar holoprosencephaly OMIM:618500
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia, Agenesis of corpus callosum ORPHA:2538
Microphthalmia With Limb Anomalies
Microphthalmia, Hydrocephalus, True anophthalmia, Death in infancy ORPHA:1106
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Holoprosencephaly OMIM:270400
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly ORPHA:3186
Charge Syndrome
Anophthalmia, Anosmia, Unilateral microphthalmos, Coloboma, Umbilical hernia, Retinal coloboma, H... OMIM:214800
Holoprosencephaly 2
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly OMIM:157170
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Alobar holoprosencephaly OMIM:301043
Monosomy 13Q14
Holoprosencephaly ORPHA:1587
Genitourinary And/Or Brain Malformation Syndrome
Holoprosencephaly OMIM:618820
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Lobar holoprosencephaly ORPHA:468631
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Ring Chromosome 7 Syndrome
Holoprosencephaly ORPHA:1449
Chromosome 13Q14 Deletion Syndrome
Holoprosencephaly OMIM:613884
Holoprosencephaly 1
Ethmocephaly, Alobar holoprosencephaly OMIM:236100
Branchiooculofacial Syndrome
Anophthalmia, Branchial anomaly, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:113620
Lateral ventricle dilatation, Abnormal midbrain morphology, Atrophy/Degeneration affecting the br... ORPHA:356961
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly OMIM:601374
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Holoprosencephaly OMIM:615948
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Semilobar holoprosencephaly OMIM:301044
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Hydrocephalus, Branchial anomaly, Microphthalmia, Agenesis... OMIM:164210
Pallister-Hall Syndrome
Holoprosencephaly ORPHA:672
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Semilobar holoprosencephaly OMIM:129900
Microphthalmia, Syndromic 6
Microphthalmia, Coloboma, Anophthalmia OMIM:607932
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly OMIM:107480
Combined Pituitary Hormone Deficiencies, Genetic Forms
Holoprosencephaly ORPHA:95494
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Duplication Of The Pituitary Gland
Encephalocele, Agenesis of corpus callosum, Abnormal midbrain morphology ORPHA:314621
Microphthalmia, Syndromic 1
Anophthalmia, Optic disc coloboma, Ciliary body coloboma, Chorioretinal coloboma, Microphthalmia,... OMIM:309800
Japanese Encephalitis
Abnormal pons morphology, Abnormal substantia nigra morphology, Abnormal midbrain morphology ORPHA:79139
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... ORPHA:68
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology 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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