All Phenotypes Pax6<Sey-Neu> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Pax6^Sey-Neu
small eye, Neuherberg
MGI:1856158

Summary

16 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax6^Sey-Neu/Pax6^Sey-Neu	CBACa.Cg-Pax6^Sey-Neu	MGI:3771029
hm2	Pax6^Sey-Neu/Pax6^Sey-Neu	involves: 102 * C3H	MGI:2171340
hm3	Pax6^Sey-Neu/Pax6^Sey-Neu	involves: 102 * C3H * CD-1	MGI:3771017
hm4	Pax6^Sey-Neu/Pax6^Sey-Neu	involves: 102 * C3H * ICR	MGI:2169472
hm5	Pax6^Sey-Neu/Pax6^Sey-Neu	involves: 102/El * C3H/Rl	MGI:2175207
ht6	Pax6^Sey-Neu/Pax6⁺	C3.Cg-Pax6^Sey-Neu	MGI:3771066
ht7	Pax6^Sey-Neu/Pax6⁺	involves: 102 * C3H	MGI:2175208
ht8	Pax6^Sey-Neu/Pax6⁺	involves: 102 * C3H * C3H/HeN	MGI:3771032
ht9	Pax6^Sey-Neu/Pax6^tm1.1Zkoz	involves: 102/El * C3H/Rl	MGI:5567091
cn10	Pax6^tm1.1Zkoz/Pax6^Sey-Neu Tg(Rax-cre)1Zkoz/0	involves: 102/El * C3H/Rl	MGI:5567090
cx11	Pax6^Sey-Neu/Pax6⁺ Sox2^tm1.1Vep/Sox2⁺	involves: 102 * C3H * C3H/HeN	MGI:3771033
cx12	Pax6^Sey/Pax6^Sey-Neu Tg(Hbb-b1)83Clo/0	involves: 102 * C3H * C57BL * CBA/Ca * CD-1 * SJL	MGI:3771027
cx13	Mitf^tm3.1Arnh/Mitf^tm3.1Arnh Pax6^Sey-Neu/Pax6⁺	involves: 129S6/SvEvTac * C57BL/6N	MGI:5316883
cx14	Mitf^mi-vga9/Mitf^mi-vga9 Pax6^Sey-Neu/Pax6^Sey-Neu	involves: C57BL/6 * CBA	MGI:5316877
cx15	Mitf^mi-vga9/Mitf^mi-vga9 Pax6^Sey-Neu/Pax6⁺	involves: C57BL/6 * CBA	MGI:5316878
cx16	Mitf^mi-vga9/Mitf⁺ Pax6^Sey-Neu/Pax6⁺	involves: C57BL/6 * CBA	MGI:5316876

Allelic Composition	Pax6^Sey-Neu/Pax6^Sey-Neu
Genetic Background	CBACa.Cg-Pax6^Sey-Neu

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6^Sey-Neu mutation (1 available); any Pax6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

craniofacial

abnormal craniofacial bone morphology ( J:43913 )

• all mice exhibit a median cartilaginous rod unlike wild-type mice

abnormal nasal capsule morphology ( J:43913 )

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

respiratory system

abnormal nasal capsule morphology ( J:43913 )

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

skeleton

abnormal craniofacial bone morphology ( J:43913 )

• all mice exhibit a median cartilaginous rod unlike wild-type mice

abnormal nasal capsule morphology ( J:43913 )

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

growth/size/body

abnormal nasal capsule morphology ( J:43913 )

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

Allelic Composition	Pax6^Sey-Neu/Pax6^Sey-Neu
Genetic Background	involves: 102 * C3H

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6^Sey-Neu mutation (1 available); any Pax6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

neonatal lethality, complete penetrance ( J:56185 )

• mice die at birth

homeostasis/metabolism

decreased circulating growth hormone level ( J:56185 )

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

nervous system

abnormal brain commissure morphology ( J:41401 )

• the posterior commissure is smaller than in wild-type mice

abnormal forebrain morphology ( J:41401 )

• at E10.5, the hemispheric sulcus is absent

abnormal olfactory nerve morphology ( J:65749 )

• olfactory nerves are absent

vision/eye

abnormal optic vesicle formation ( J:41401 )

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

taste/olfaction

abnormal olfactory epithelium morphology ( J:65749 )

• 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

abnormal submandibular gland morphology ( J:74539 )

• mice exhibit disorganized mesenchyme

submandibular gland hypoplasia ( J:74539 )

• mice exhibit hypoplastic submandibular glands

endocrine/exocrine glands

abnormal submandibular gland morphology ( J:74539 )

• mice exhibit disorganized mesenchyme

submandibular gland hypoplasia ( J:74539 )

• mice exhibit hypoplastic submandibular glands

respiratory system

abnormal olfactory epithelium morphology ( J:65749 )

• 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

abnormal olfactory epithelium morphology ( J:65749 )

• 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

abnormal olfactory epithelium morphology ( J:65749 )

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

Allelic Composition	Pax6^Sey-Neu/Pax6^Sey-Neu
Genetic Background	involves: 102 * C3H * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6^Sey-Neu mutation (1 available); any Pax6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

abnormal hormone level ( J:41624 )

• 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

abnormal pallium development ( J:66590 )

• 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

absent pancreatic alpha cells ( J:41624 )

• at E12.5, no alpha or beta cells are detected

• at E18.5, no glucagons producing cells are detected

absent pancreatic beta cells ( J:41624 )

• at E12.5, no alpha or beta cells are detected

Allelic Composition	Pax6^Sey-Neu/Pax6^Sey-Neu
Genetic Background	involves: 102 * C3H * ICR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6^Sey-Neu mutation (1 available); any Pax6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

abnormal lens induction ( J:51570 )

nervous system

abnormal cerebellum morphology ( J:103551 )

• 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

abnormal cerebellum external granule cell layer morphology ( J:103551 )

• the external granule cell layer area is increased compared to wild-type

ectopic Purkinje cell ( J:103551 )

• 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

abnormal cerebellar granule cell morphology ( J:103551 )

• in culture, granule cells exhibit increased numbers of cellular aggregates due to increased proliferation

abnormal cerebellum vermis morphology ( J:103551 )

• the vermis is thinned

Allelic Composition	Pax6^Sey-Neu/Pax6^Sey-Neu
Genetic Background	involves: 102/El * C3H/Rl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6^Sey-Neu mutation (1 available); any Pax6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

endocrine/exocrine glands

abnormal endocrine pancreas development ( J:132598 )

• 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

Allelic Composition	Pax6^Sey-Neu/Pax6⁺
Genetic Background	C3.Cg-Pax6^Sey-Neu

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6^Sey-Neu mutation (1 available); any Pax6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

abnormal eye development ( J:65597 )

• eye placode development is delayed

abnormal lens development ( J:65597 )

• 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)

Allelic Composition	Pax6^Sey-Neu/Pax6⁺
Genetic Background	involves: 102 * C3H

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6^Sey-Neu mutation (1 available); any Pax6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

iris hypoplasia ( J:83026 )

• at E18.5, the iris is hypoplastic and the iridocorneal angle is obliterated by cells

abnormal cornea morphology ( J:83026 )

• 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

cornea vascularization ( J:83026 , J:114973 )

• 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)

anterior iris synechia ( J:83026 )

• 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

abnormal Bowman membrane morphology ( J:83026 )

• at P14, Bowman's layer is interrupted in some areas

abnormal cornea epithelium morphology ( J:83791 )

• unlike in wild-type mice, basal cells are more rounded and the cell layers are not packed tightly

• no goblet cells are observed

• adhesion between cells in the suprabasal middle and superficial layers is disrupted

decreased cornea epithelium thickness ( J:83026 , J:83791 , J:114973 )

• 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)

• 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)

abnormal cornea stroma morphology ( J:83026 , 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)

abnormal cornea anterior stroma morphology ( J:83026 )

• 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

abnormal eye anterior chamber morphology ( J:83026 )

• 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

abnormal lens vesicle development ( J:83026 )

• unlike in wild-type mice, the lens vesicle remains attached to the surface of the corneal epithelium by a persistent lens stalk

microphthalmia ( J:83026 )

• eye weight is decreased (16.0+/-0.3 mg compared to 21.4+/-0.3 mg in wild-type mice)

cardiovascular system

cornea vascularization ( J:83026 , J:114973 )

• 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)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
aniridia		DOID:12271	OMIM:PS106210	J:83026

Allelic Composition	Pax6^Sey-Neu/Pax6⁺
Genetic Background	involves: 102 * C3H * C3H/HeN

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6^Sey-Neu mutation (1 available); any Pax6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

abnormal lens morphology ( J:119175 )

• at E11.5, lens dysmorphia is observed

Allelic Composition	Pax6^Sey-Neu/Pax6^tm1.1Zkoz
Genetic Background	involves: 102/El * C3H/Rl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6^Sey-Neu mutation (1 available); any Pax6 mutation (94 available)
Pax6^tm1.1Zkoz mutation (0 available); any Pax6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

abnormal optic cup morphology ( J:208421 )

• slight delay in optic cup morphogenesis at E10.5

Allelic Composition	Pax6^tm1.1Zkoz/Pax6^Sey-Neu Tg(Rax-cre)1Zkoz/0
Genetic Background	involves: 102/El * C3H/Rl

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

absent lens vesicle ( J:208421 )

• at E11

abnormal optic placode morphology ( J:208421 )

• does not form lens vesicle at E11

• optic vesicle arrests at E11 or shows only a small invagination into an optic cup like structure

aphakia ( J:208421 )

• at E11

abnormal optic cup morphology ( J:208421 )

• defective lens/optic cup formation at E11

Allelic Composition	Pax6^Sey-Neu/Pax6⁺ Sox2^tm1.1Vep/Sox2⁺
Genetic Background	involves: 102 * C3H * C3H/HeN

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6^Sey-Neu mutation (1 available); any Pax6 mutation (94 available)
Sox2^tm1.1Vep mutation (0 available); any Sox2 mutation (56 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

abnormal lens morphology ( J:119175 )

• at E11.5, lens dysmorphia is observed but is no more severe than in Pax6^Sey-Neu heterozygotes

Allelic Composition	Pax6^Sey/Pax6^Sey-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:
Pax6^Sey mutation (9 available); any Pax6 mutation (94 available)
Pax6^Sey-Neu mutation (1 available); any Pax6 mutation (94 available)
Tg(Hbb-b1)83Clo mutation (4 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

craniofacial

abnormal craniofacial bone morphology ( J:43913 )

• all mice exhibit a median cartilaginous rod unlike wild-type mice

supernumerary incisors ( J:43913 )

• 22% of mice possess a single supernumerary upper incisor tooth

abnormal nasal capsule morphology ( J:43913 )

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

respiratory system

abnormal nasal capsule morphology ( J:43913 )

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

skeleton

abnormal craniofacial bone morphology ( J:43913 )

• all mice exhibit a median cartilaginous rod unlike wild-type mice

supernumerary incisors ( J:43913 )

• 22% of mice possess a single supernumerary upper incisor tooth

abnormal nasal capsule morphology ( J:43913 )

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

growth/size/body

supernumerary incisors ( J:43913 )

• 22% of mice possess a single supernumerary upper incisor tooth

abnormal nasal capsule morphology ( J:43913 )

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

Allelic Composition	Mitf^tm3.1Arnh/Mitf^tm3.1Arnh Pax6^Sey-Neu/Pax6⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitf^tm3.1Arnh mutation (0 available); any Mitf mutation (72 available)
Pax6^Sey-Neu mutation (1 available); any Pax6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

abnormal retina pigment epithelium morphology ( J:188155 )

• dorsal thickening observed at E11.5 becoming prominent at E13.5

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

pigmentation

abnormal retina pigment epithelium morphology ( J:188155 )

• dorsal thickening observed at E11.5 becoming prominent at E13.5

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

Allelic Composition	Mitf^mi-vga9/Mitf^mi-vga9 Pax6^Sey-Neu/Pax6^Sey-Neu
Genetic Background	involves: C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitf^mi-vga9 mutation (1 available); any Mitf mutation (72 available)
Pax6^Sey-Neu mutation (1 available); any Pax6 mutation (94 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

abnormal retina pigment epithelium morphology ( J:188155 )

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

pigmentation

abnormal retina pigment epithelium morphology ( J:188155 )

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

Allelic Composition	Mitf^mi-vga9/Mitf^mi-vga9 Pax6^Sey-Neu/Pax6⁺
Genetic Background	involves: C57BL/6 * CBA

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

abnormal retina pigment epithelium morphology ( J:188155 )

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

pigmentation

abnormal retina pigment epithelium morphology ( J:188155 )

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

Allelic Composition	Mitf^mi-vga9/Mitf⁺ Pax6^Sey-Neu/Pax6⁺
Genetic Background	involves: C57BL/6 * CBA

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

abnormal retina pigment epithelium morphology ( J:188155 )

• dorsal thickening observed at E13.5

pigmentation

abnormal retina pigment epithelium morphology ( J:188155 )

• dorsal thickening observed at E13.5

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