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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pax6Sey
small eye
MGI:1856155
Summary 19 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pax6Sey/Pax6Sey B10.Cg-Pax6Sey MGI:3588959
hm2
Pax6Sey/Pax6Sey CBACa.Cg-Pax6Sey MGI:3771028
hm3
Pax6Sey/Pax6Sey C.Cg-Pax6Sey MGI:3709573
hm4
Pax6Sey/Pax6Sey involves: C57BL/6 MGI:3771035
hm5
Pax6Sey/Pax6Sey involves: C57BL/6J * DBA/2J MGI:2179952
hm6
Pax6Sey/Pax6Sey involves: ICR MGI:3771067
hm7
Pax6Sey/Pax6Sey involves: Swiss MGI:2385726
hm8
Pax6Sey/Pax6Sey Not Specified MGI:2166662
ht9
Pax6Sey/Pax6+ B10.Cg-Pax6Sey MGI:3588960
ht10
Pax6Sey/Pax6+ C.Cg-Pax6Sey MGI:3709574
ht11
Pax6Sey/Pax6+ involves: C57BL/6 MGI:3771036
ht12
Pax6Sey/Pax6+ Not Specified MGI:2170872
ht13
Pax6Sey/Pax6Sey-H involves: 101/H * C3H/HeH * C57BL/10 MGI:3767472
ht14
Pax6Sey-Dey/Pax6Sey involves: C3H/HeJ MGI:4358875
cx15
Pax6Sey/Pax6Sey-Neu
Tg(Hbb-b1)83Clo/0
involves: 102 * C3H * C57BL * CBA/Ca * CD-1 * SJL MGI:3771027
cx16
Gli2tm1Alj/Gli2tm1Alj
Pax6Sey/Pax6Sey
involves: 129S1/Sv * 129X1/SvJ MGI:3664781
cx17
Pax6Sey/Pax6Sey
Tg(PAX6)77Ndha/?
involves: C57BL/6 * CBA MGI:5316843
cx18
Emx2tm1Sia/Emx2tm1Sia
Pax6Sey/Pax6Sey
involves: C57BL/6 * CBA MGI:3580109
cx19
Pax6Sey/Pax6Sey
Tg(Hbb-b1)83Clo/0
involves: C57BL * CBA/Ca * CD-1 * SJL MGI:3771026


Genotype
MGI:3588959
hm1
Allelic
Composition
Pax6Sey/Pax6Sey
Genetic
Background
B10.Cg-Pax6Sey
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice are still viable at E11.5 but are seldom born

vision/eye
• fail to develop eye pigment by E11.5 in mice that lack the lens
• at E10.5, mice lack lenses
• however, optic vessicles are normal in size

nervous system
• at birth

respiratory system
• at E10.5, mice lack the nasal pit

craniofacial
• only small frontonasal protuberances formed by E11.5 which later fuse with maxillary processes
• at E10.5, mice lack the nasal pit

pigmentation
• fail to develop eye pigment by E11.5 in mice that lack the lens

skeleton
• only small frontonasal protuberances formed by E11.5 which later fuse with maxillary processes




Genotype
MGI:3771028
hm2
Allelic
Composition
Pax6Sey/Pax6Sey
Genetic
Background
CBACa.Cg-Pax6Sey
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
N
• mice do not possess supernumerary incisors
• all mice exhibit a median cartilaginous rod unlike wild-type mice
• 33% of mice posses unilateral or bilateral ectopic cartilaginous spurs derived from the antero-lateral aspect of the nasal capsule
• unlike in wild-type mice the nasal capsule surrounds the entire are of the developing incisor teeth

respiratory system
• 33% of mice posses unilateral or bilateral ectopic cartilaginous spurs derived from the antero-lateral aspect of the nasal capsule
• unlike in wild-type mice the nasal capsule surrounds the entire are of the developing incisor teeth

skeleton
• all mice exhibit a median cartilaginous rod unlike wild-type mice
• 33% of mice posses unilateral or bilateral ectopic cartilaginous spurs derived from the antero-lateral aspect of the nasal capsule
• unlike in wild-type mice the nasal capsule surrounds the entire are of the developing incisor teeth

growth/size/body
• 33% of mice posses unilateral or bilateral ectopic cartilaginous spurs derived from the antero-lateral aspect of the nasal capsule
• unlike in wild-type mice the nasal capsule surrounds the entire are of the developing incisor teeth




Genotype
MGI:3709573
hm3
Allelic
Composition
Pax6Sey/Pax6Sey
Genetic
Background
C.Cg-Pax6Sey
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• animals show corneal edema with deranged collagen bundles
• corneal epithelium has a bubbly appearance like Foxe3tm1Pca /+ or Foxe3dyl /+ mice

cardiovascular system




Genotype
MGI:3771035
hm4
Allelic
Composition
Pax6Sey/Pax6Sey
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die soon after birth because of inability to breathe during suckling

vision/eye
• at E15, homozygotes have no visible eyes

craniofacial
• defects in nasal cavity development results in shortened, imperforate snout

respiratory system

growth/size/body
• defects in nasal cavity development results in shortened, imperforate snout




Genotype
MGI:2179952
hm5
Allelic
Composition
Pax6Sey/Pax6Sey
Genetic
Background
involves: C57BL/6J * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• decrease in the number of neurons generated in the cerebral cortex
• 2.4 fold increase in subventricular zone precursors but not in ventricular zone precursors of the cortex
• at E14, proliferation of marginal zone neural progenitors of the cerebral cortex is increased three time compared to in wild-type mice
• altered dorso-ventral patterning of the forebrain
• altered dorso-ventral telencephalic boundary
• decreased thickness of the cortical plate
• 2.4 fold increase in subventricular zone precursors but not in ventricular zone precursors of the cortex

cellular
• decrease in the number of neurons generated in the cerebral cortex
• 2.4 fold increase in subventricular zone precursors but not in ventricular zone precursors of the cortex




Genotype
MGI:3771067
hm6
Allelic
Composition
Pax6Sey/Pax6Sey
Genetic
Background
involves: ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at E18.5, mice display a teardrop shaped cerebellum due to thinning of the cerebellar vermis and thickening of the lateral hemisphere in addition to alterations in the medial to lateral profile of areas from sagittal sections
• the external granule cell layer area is increased compared to wild-type
• Purkinje cells are located abnormally deep compared to in wild-type mice
• ectopic Purkinje cells are located in the distinct clusters in the vermis and hemisphere and in the inferior colliculus
• 25% of Purkinje cells are located deep to the developing Purkinje cell plate compared to only 3% in wild-type mice
• in culture, granule cells exhibit increased numbers of cellular aggregates due to increased proliferation
• the vermis is thinned




Genotype
MGI:2385726
hm7
Allelic
Composition
Pax6Sey/Pax6Sey
Genetic
Background
involves: Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• absence of lens placode and lens pit
• broader rather than proximally constricted at E9.5
• optic stalk retains a lumen through E15.5
• contact of optic vesicle with surface ectoderm at E9.5 but progressively lost as mesenchymal cells intervene

respiratory system
• lateral nasal processes absent at E10.5
• nasal placodes not detectable at E9.5

taste/olfaction
• nasal placodes not detectable at E9.5

craniofacial
• nasal placodes not detectable at E9.5




Genotype
MGI:2166662
hm8
Allelic
Composition
Pax6Sey/Pax6Sey
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• develop to term but die of breathing problems associated with the lack of a nose

vision/eye

nervous system
• at E10.5 Nkx2.2+ V3 progenitors show dorsal expansion in the thoracic and cervical regions of the spinal cord
• anterior pretectum is reduced but present and the posterior pretectum scarcely exists at E12.5
• diencephalic structures were poor but present
• prethalamus and thalamus were reduced at E12.5
• while apoptosis and proliferation rates are unchanged, a greater number of cells exit the cell cycle and differentiate than in wild-type mice
• at E12.5, 114+/-7.1 um compared to 135+/+6.2 um for wild-type cortex
• E17.5 mutants show a greater than 90% reduction in the number of calbindin-positive cells close to the white matter in the spinal cord, indicating that Renshaw cells fail to develop
• no synaptic potentials are evoked by ventral root stimulation, indicating that Renshaw cell inputs to motor neurons are absent

respiratory system
• due to lack of nose
• cause of perinatal death

craniofacial

cellular
• at E10.5 Nkx2.2+ V3 progenitors show dorsal expansion in the thoracic and cervical regions of the spinal cord

growth/size/body




Genotype
MGI:3588960
ht9
Allelic
Composition
Pax6Sey/Pax6+
Genetic
Background
B10.Cg-Pax6Sey
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• sometimes folding around anterior of lense
• with many vacuolated cells
• sometimes incompletely separated from overlying ectoderm

pigmentation
• sometimes folding around anterior of lense




Genotype
MGI:3709574
ht10
Allelic
Composition
Pax6Sey/Pax6+
Genetic
Background
C.Cg-Pax6Sey
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at E11.5, lens pit or vesicle is smaller than in wild-type
• reduction in lens vesicle tissue volume is similar to that observed in Foxe3dyl homozygotes, while in Foxe3-heterozygotes volume reduction is intermediate between homozygotes and wild-type




Genotype
MGI:3771036
ht11
Allelic
Composition
Pax6Sey/Pax6+
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at E15, fissure of optic cup is often delayed in closing
• at E15, there is folding at the margin of the optic cup resulting in a keyhole-shaped opening
• at E15 heterozygotes have smaller eyes than wild-type




Genotype
MGI:2170872
ht12
Allelic
Composition
Pax6Sey/Pax6+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Development of the Pax6Sey/Pax6+ lens

vision/eye
• myelinated nerve counts lower than in controls
• cross sectional area in males significantly smaller than in controls
• display a persistent plug of ectoderm linking the corneal and anterior lens epithelia at E16.6
• the lens-corneal bridge exhibits high levels of apoptosis but normal proliferation
• reduced anterior chamber, with multiple sites of adhesion between the anterior surface of the lens and the corneal endothelium
• the lens shows evidence of degeneration
• the lens is developmentally delayed
• persistence of the lens vesicular cavity
• extensive vacuolation of the primary lens fibers
• delayed fusion of the eyelids
• microphthalmia, but highly variable from almost unnoticeable to very small (J:12101)
• never anophthalmic (J:12101)
• frequently necrotic in adults
• sensory cells in only 15% of eyes

growth/size/body
• reduced size

nervous system
• myelinated nerve counts lower than in controls
• cross sectional area in males significantly smaller than in controls

pigmentation
• frequently necrotic in adults

Mouse Models of Human Disease
OMIM ID Ref(s)
Aniridia; AN 106210 J:22316
Peters Anomaly 604229 J:22316




Genotype
MGI:3767472
ht13
Allelic
Composition
Pax6Sey/Pax6Sey-H
Genetic
Background
involves: 101/H * C3H/HeH * C57BL/10
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
Pax6Sey-H mutation (2 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• at E13.5, the maxillae are not fused and there is only a small bilobed protrusion in the frontonasal position that in some mice may fuse on one side
• facial development is retarded compared to wild-type and Pax6Sey homozygotes

vision/eye
• while small bleds are present in the area occupied by the eye they contain no brain involvement

embryo
• at E13.5, mice are smaller than wild-type and Pax6sey homozygotes

skeleton
• at E13.5, the maxillae are not fused and there is only a small bilobed protrusion in the frontonasal position that in some mice may fuse on one side

digestive/alimentary system
• at E13.5, the maxillae are not fused and there is only a small bilobed protrusion in the frontonasal position that in some mice may fuse on one side

growth/size/body
• at E13.5, the maxillae are not fused and there is only a small bilobed protrusion in the frontonasal position that in some mice may fuse on one side
• at E13.5, mice are smaller than wild-type and Pax6sey homozygotes




Genotype
MGI:4358875
ht14
Allelic
Composition
Pax6Sey-Dey/Pax6Sey
Genetic
Background
involves: C3H/HeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
Pax6Sey-Dey mutation (1 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• 23% of embryos from a heterozygous intercross show not development of nasal placodes

taste/olfaction
• 23% of embryos from a heterozygous intercross show not development of nasal placodes

vision/eye
• 23% of embryos from a heterozygous intercross show no development of the lens
• approximately a third of the embryos 14.5 days or older from heterozygous intercrosses are colobomatous

craniofacial
• 23% of embryos from a heterozygous intercross show not development of nasal placodes




Genotype
MGI:3771027
cx15
Allelic
Composition
Pax6Sey/Pax6Sey-Neu
Tg(Hbb-b1)83Clo/0
Genetic
Background
involves: 102 * C3H * C57BL * CBA/Ca * CD-1 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
Pax6Sey-Neu mutation (1 available); any Pax6 mutation (54 available)
Tg(Hbb-b1)83Clo mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• all mice exhibit a median cartilaginous rod unlike wild-type mice
• 22% of mice possess a single supernumerary upper incisor tooth
• 22% of mice posses unilateral or bilateral ectopic cartilaginous spurs derived from the antero-lateral aspect of the nasal capsule

respiratory system
• 22% of mice posses unilateral or bilateral ectopic cartilaginous spurs derived from the antero-lateral aspect of the nasal capsule

skeleton
• all mice exhibit a median cartilaginous rod unlike wild-type mice
• 22% of mice possess a single supernumerary upper incisor tooth
• 22% of mice posses unilateral or bilateral ectopic cartilaginous spurs derived from the antero-lateral aspect of the nasal capsule

growth/size/body
• 22% of mice possess a single supernumerary upper incisor tooth
• 22% of mice posses unilateral or bilateral ectopic cartilaginous spurs derived from the antero-lateral aspect of the nasal capsule




Genotype
MGI:3664781
cx16
Allelic
Composition
Gli2tm1Alj/Gli2tm1Alj
Pax6Sey/Pax6Sey
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gli2tm1Alj mutation (0 available); any Gli2 mutation (132 available)
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at E10.5 Nkx2.2+ V3 progenitors show dorsal expansion in the thoracic region similar to Pax6 single homozygotes

cellular
• at E10.5 Nkx2.2+ V3 progenitors show dorsal expansion in the thoracic region similar to Pax6 single homozygotes




Genotype
MGI:5316843
cx17
Allelic
Composition
Pax6Sey/Pax6Sey
Tg(PAX6)77Ndha/?
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
Tg(PAX6)77Ndha mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• normal eye size

taste/olfaction
N
• nasal cavity present
• normal olfactory epithelium

nervous system
N
• olfactory bulbs normal
• subventricular zone of cerebral hemispheres normal




Genotype
MGI:3580109
cx18
Allelic
Composition
Emx2tm1Sia/Emx2tm1Sia
Pax6Sey/Pax6Sey
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx2tm1Sia mutation (1 available); any Emx2 mutation (15 available)
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• an amorphous structure was present where normally the thalamus/pretectum develops at E12.5
• the supraopto-paraventricular area was lost at E12.5
• choroid plexus was never apparent at E12.5
• the commissural plate was caudally expanded
• mirror image duplication of tectum at E18.5, however duplication of the cerebellum or tegmentum did not occur
• both the non-commissure region and the commissure region of the pretectum were absent at E12.5
• prethalamus and thalamus were not apparent at E12.5
• zona limitans intrathalamica was never formed
• diencephalic structures were not apparent at E12.5
• the choroidal roof at the telencephalic level did not develop
• Ammon's horn did not develop at E12.5
• prospective hippocampus was absent at E12.5
• greatly reduced pallium at E18.5 that was lost in the medial portion, greatly reduced but present neopallium at E12.5 and absent cortical hem at E12.5
• hyperplastic ganglionic eminences




Genotype
MGI:3771026
cx19
Allelic
Composition
Pax6Sey/Pax6Sey
Tg(Hbb-b1)83Clo/0
Genetic
Background
involves: C57BL * CBA/Ca * CD-1 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey mutation (3 available); any Pax6 mutation (54 available)
Tg(Hbb-b1)83Clo mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• all mice exhibit a median cartilaginous rod unlike wild-type mice
• 43% of mice from the agouti sub-line exhibit supernumerary upper incisor teeth and 14% of the non-agouti line possess a single supernumerary upper incisor tooth
• 86% mice from the agouti sub-line, but none from the non-agouti sub-line, posses unilateral or bilateral ectopic cartilaginous spurs derived from the antero-lateral aspect of the nasal capsule

respiratory system
• 86% mice from the agouti sub-line, but none from the non-agouti sub-line, posses unilateral or bilateral ectopic cartilaginous spurs derived from the antero-lateral aspect of the nasal capsule

skeleton
• all mice exhibit a median cartilaginous rod unlike wild-type mice
• 43% of mice from the agouti sub-line exhibit supernumerary upper incisor teeth and 14% of the non-agouti line possess a single supernumerary upper incisor tooth
• 86% mice from the agouti sub-line, but none from the non-agouti sub-line, posses unilateral or bilateral ectopic cartilaginous spurs derived from the antero-lateral aspect of the nasal capsule

growth/size/body
• 43% of mice from the agouti sub-line exhibit supernumerary upper incisor teeth and 14% of the non-agouti line possess a single supernumerary upper incisor tooth
• 86% mice from the agouti sub-line, but none from the non-agouti sub-line, posses unilateral or bilateral ectopic cartilaginous spurs derived from the antero-lateral aspect of the nasal capsule





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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory