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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pax6Sey-Neu
small eye, Neuherberg
MGI:1856158
Summary 16 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pax6Sey-Neu/Pax6Sey-Neu CBACa.Cg-Pax6Sey-Neu MGI:3771029
hm2
Pax6Sey-Neu/Pax6Sey-Neu involves: 102 * C3H MGI:2171340
hm3
Pax6Sey-Neu/Pax6Sey-Neu involves: 102 * C3H * CD-1 MGI:3771017
hm4
Pax6Sey-Neu/Pax6Sey-Neu involves: 102 * C3H * ICR MGI:2169472
hm5
Pax6Sey-Neu/Pax6Sey-Neu involves: 102/El * C3H/Rl MGI:2175207
ht6
Pax6Sey-Neu/Pax6+ C3.Cg-Pax6Sey-Neu MGI:3771066
ht7
Pax6Sey-Neu/Pax6+ involves: 102 * C3H MGI:2175208
ht8
Pax6Sey-Neu/Pax6+ involves: 102 * C3H * C3H/HeN MGI:3771032
ht9
Pax6Sey-Neu/Pax6tm1.1Zkoz involves: 102/El * C3H/Rl MGI:5567091
cn10
Pax6tm1.1Zkoz/Pax6Sey-Neu
Tg(Rax-cre)1Zkoz/0
involves: 102/El * C3H/Rl MGI:5567090
cx11
Pax6Sey-Neu/Pax6+
Sox2tm1.1Vep/Sox2+
involves: 102 * C3H * C3H/HeN MGI:3771033
cx12
Pax6Sey/Pax6Sey-Neu
Tg(Hbb-b1)83Clo/0
involves: 102 * C3H * C57BL * CBA/Ca * CD-1 * SJL MGI:3771027
cx13
Mitftm3.1Arnh/Mitftm3.1Arnh
Pax6Sey-Neu/Pax6+
involves: 129S6/SvEvTac * C57BL/6N MGI:5316883
cx14
Mitfmi-vga9/Mitfmi-vga9
Pax6Sey-Neu/Pax6+
involves: C57BL/6 * CBA MGI:5316878
cx15
Mitfmi-vga9/Mitfmi-vga9
Pax6Sey-Neu/Pax6Sey-Neu
involves: C57BL/6 * CBA MGI:5316877
cx16
Mitfmi-vga9/Mitf+
Pax6Sey-Neu/Pax6+
involves: C57BL/6 * CBA MGI:5316876


Genotype
MGI:3771029
hm1
Allelic
Composition
Pax6Sey-Neu/Pax6Sey-Neu
Genetic
Background
CBACa.Cg-Pax6Sey-Neu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey-Neu mutation (1 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• all mice exhibit a median cartilaginous rod unlike wild-type mice
• 27% of mice posses unilateral or bilateral ectopic cartilaginous spurs derived from the antero-lateral aspect of the nasal capsule

respiratory system
• 27% 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
• 27% of mice posses unilateral or bilateral ectopic cartilaginous spurs derived from the antero-lateral aspect of the nasal capsule

growth/size/body
• 27% of mice posses unilateral or bilateral ectopic cartilaginous spurs derived from the antero-lateral aspect of the nasal capsule




Genotype
MGI:2171340
hm2
Allelic
Composition
Pax6Sey-Neu/Pax6Sey-Neu
Genetic
Background
involves: 102 * C3H
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey-Neu mutation (1 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

homeostasis/metabolism
• at E17.5 and P0, growth hormone levels are 5-fold and 3-fold lower, respectively, than in wild-type mice

nervous system
• the posterior commissure is smaller than in wild-type mice
• at E10.5, the hemispheric sulcus is absent
• olfactory nerves are absent

vision/eye
• at E10.5, the optic vesicle is overly broad

taste/olfaction
• unlike in wild-type mice, only bilateral, small and irregular clusters of epithelial vesicle cells are observed where the olfactory epithelium should be located

digestive/alimentary system
• mice exhibit disorganized mesenchyme
• mice exhibit hypoplastic submandibular glands

endocrine/exocrine glands
• mice exhibit disorganized mesenchyme
• mice exhibit hypoplastic submandibular glands

respiratory system
• unlike in wild-type mice, only bilateral, small and irregular clusters of epithelial vesicle cells are observed where the olfactory epithelium should be located

craniofacial
• unlike in wild-type mice, only bilateral, small and irregular clusters of epithelial vesicle cells are observed where the olfactory epithelium should be located

growth/size/body
• unlike in wild-type mice, only bilateral, small and irregular clusters of epithelial vesicle cells are observed where the olfactory epithelium should be located




Genotype
MGI:3771017
hm3
Allelic
Composition
Pax6Sey-Neu/Pax6Sey-Neu
Genetic
Background
involves: 102 * C3H * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey-Neu mutation (1 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• at E18.5, the amount of glucagon in the pancreas is 2.6% of wild-type (13.8+/-1.45 ng/mg protein compared to 527+/-62.8 ng/mg protein in wild-type)
• at E18.5, the amount of insulin in the pancreas is 13% of wild-type (1.6+/-0.08 ug/mg protein compared to 12.2+/-1.3 ug/mg protein in wild-type)

nervous system
• at E10.5 to E12.5, pallium development is abnormal such that pallial subdivisions closets to the pallial/subpallial boundary are most severely affected as determined by the expression several markers
• the ventral pallium progenitor zone becomes more ventralized

endocrine/exocrine glands
• at E12.5, no alpha or beta cells are detected
• at E18.5, no glucagons producing cells are detected
• at E12.5, no alpha or beta cells are detected




Genotype
MGI:2169472
hm4
Allelic
Composition
Pax6Sey-Neu/Pax6Sey-Neu
Genetic
Background
involves: 102 * C3H * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey-Neu mutation (1 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye

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:2175207
hm5
Allelic
Composition
Pax6Sey-Neu/Pax6Sey-Neu
Genetic
Background
involves: 102/El * C3H/Rl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey-Neu mutation (1 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• there is a significant reduction in the number of cells expressing insulin and glucagon in the pancreas of E15.5 embyros
• the number of insulin-positive cells is still low at E17.5
• the number of glucagon expressing cells is lower than wild-type at E12.5




Genotype
MGI:3771066
ht6
Allelic
Composition
Pax6Sey-Neu/Pax6+
Genetic
Background
C3.Cg-Pax6Sey-Neu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey-Neu mutation (1 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• eye placode development is delayed
• mice exhibit reduced numbers of lens cells compared to wild-type mice (49+/-5% fewer at E10.5, 56+/-6% fewer at E11.5, and 46+/-3% at E12.5)




Genotype
MGI:2175208
ht7
Allelic
Composition
Pax6Sey-Neu/Pax6+
Genetic
Background
involves: 102 * C3H
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey-Neu mutation (1 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at E18.5, the iris is hypoplastic and the iridocorneal angle is obliterated by cells
• the lens stalk persists and forms an epithelial plug in the cornea
• corneal degeneration worsens with age with older mice exhibiting more prominent subepithelial pannus and more goblet cells than younger mice
• many mice develop vascularized cornea or ones that contain cellular infiltrates unlike in wild-type mice (J:83026)
• mice exhibited spontaneous corneal vascularization (J:114973)
• corneal injection of sflt-1 (secreted isoform of the cell surface receptor membrane-bound Flt1) protein reduces the area of vascularization compared to untreated mutant mice (J:114973)
• keratolenticular adhesions are present in the central cornea and between the anterior iris stroma and trabecullar meshwork between the iris stroma and the peripheral cornea, and between extensions of abnormal iris processes and the cornea
• at P14, Bowman's layer is interrupted in some areas
• unlike in wild-type mice, the lens vesicle remains attached to the surface of the corneal epithelium by a persistent lens stalk (J:83026)
• at P14, the corneal epithelium is thinner (2 to 3 cell layers thick compared to 3 to 4 cell layers thick in wild-type mice) (J:83026)
• reduction in cell layers is apparent at P14 and P21 (J:83791)
• unlike in wild-type mice, basal cells are more rounded and the cell layers are not packed tightly (J:83791)
• no goblet cells are observed (J:83791)
• the corneal epithelium is 1 to 7 cell layers thick instead of 8 to 10 as in wild-type mice (J:83791)
• however, apoptosis rates are normal (J:83791)
• adhesion between cells in the suprabasal middle and superficial layers is disrupted (J:83791)
• at E16.5 and E18.5, the stroma appears thicker and parallel arrangement is distorted toward the center of the cornea (J:83026)
• the stroma exhibits varied thickness and a general disorganizeation with large aggregates of laminn in the anterior region (J:83791)
• hypercellular at fetal stages
• the anterior stroma sometimes appears edematous and in 2 of 4 mice the formation of pannus occurs in the superficial stroma
• by E14.5, the anterior chamber has not formed unlike in wild-type mice
• at E16.5, the center of the anterior chamber is interrupted by a persistent lens stalk
• unlike in wild-type mice, the lens vesicle remains attached to the surface of the corneal epithelium by a persistent lens stalk
• eye weight is decreased (16.0+/-0.3 mg compared to 21.4+/-0.3 mg in wild-type mice)

cardiovascular system
• many mice develop vascularized cornea or ones that contain cellular infiltrates unlike in wild-type mice (J:83026)
• mice exhibited spontaneous corneal vascularization (J:114973)
• corneal injection of sflt-1 (secreted isoform of the cell surface receptor membrane-bound Flt1) protein reduces the area of vascularization compared to untreated mutant mice (J:114973)




Genotype
MGI:3771032
ht8
Allelic
Composition
Pax6Sey-Neu/Pax6+
Genetic
Background
involves: 102 * C3H * C3H/HeN
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey-Neu mutation (1 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at E11.5, lens dysmorphia is observed




Genotype
MGI:5567091
ht9
Allelic
Composition
Pax6Sey-Neu/Pax6tm1.1Zkoz
Genetic
Background
involves: 102/El * C3H/Rl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey-Neu mutation (1 available); any Pax6 mutation (54 available)
Pax6tm1.1Zkoz mutation (0 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• slight delay in optic cup morphogenesis at E10.5




Genotype
MGI:5567090
cn10
Allelic
Composition
Pax6tm1.1Zkoz/Pax6Sey-Neu
Tg(Rax-cre)1Zkoz/0
Genetic
Background
involves: 102/El * C3H/Rl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey-Neu mutation (1 available); any Pax6 mutation (54 available)
Pax6tm1.1Zkoz mutation (0 available); any Pax6 mutation (54 available)
Tg(Rax-cre)1Zkoz mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• does not form lens vesicle at E11
• optic vesicle arrests at E11 or shows only a small invagination into an optic cup like structure
• at E11
• defective lens/optic cup formation at E11




Genotype
MGI:3771033
cx11
Allelic
Composition
Pax6Sey-Neu/Pax6+
Sox2tm1.1Vep/Sox2+
Genetic
Background
involves: 102 * C3H * C3H/HeN
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6Sey-Neu mutation (1 available); any Pax6 mutation (54 available)
Sox2tm1.1Vep mutation (0 available); any Sox2 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at E11.5, lens dysmorphia is observed but is no more severe than in Pax6Sey-Neu heterozygotes




Genotype
MGI:3771027
cx12
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:5316883
cx13
Allelic
Composition
Mitftm3.1Arnh/Mitftm3.1Arnh
Pax6Sey-Neu/Pax6+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitftm3.1Arnh mutation (0 available); any Mitf mutation (56 available)
Pax6Sey-Neu mutation (1 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• dorsal thickening observed at E11.5 becoming prominent at E13.5
• trans-differentiating retinal pigment epithelium cells generate differentiated retinal cells by birth

pigmentation
• dorsal thickening observed at E11.5 becoming prominent at E13.5
• trans-differentiating retinal pigment epithelium cells generate differentiated retinal cells by birth




Genotype
MGI:5316878
cx14
Allelic
Composition
Mitfmi-vga9/Mitfmi-vga9
Pax6Sey-Neu/Pax6+
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitfmi-vga9 mutation (1 available); any Mitf mutation (56 available)
Pax6Sey-Neu mutation (1 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• trans-differentiating retinal pigment epithelium cells generate differentiated retinal cells by birth

pigmentation
• trans-differentiating retinal pigment epithelium cells generate differentiated retinal cells by birth




Genotype
MGI:5316877
cx15
Allelic
Composition
Mitfmi-vga9/Mitfmi-vga9
Pax6Sey-Neu/Pax6Sey-Neu
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitfmi-vga9 mutation (1 available); any Mitf mutation (56 available)
Pax6Sey-Neu mutation (1 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• massive enlargement of the retinal pigment epithelium at E13.5

pigmentation
• massive enlargement of the retinal pigment epithelium at E13.5




Genotype
MGI:5316876
cx16
Allelic
Composition
Mitfmi-vga9/Mitf+
Pax6Sey-Neu/Pax6+
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitfmi-vga9 mutation (1 available); any Mitf mutation (56 available)
Pax6Sey-Neu mutation (1 available); any Pax6 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• dorsal thickening observed at E13.5

pigmentation
• dorsal thickening observed at E13.5





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