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- Description
- Phenotype
- Genes & alleles
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Description
Strain Information
Former Names B6EiC3Sn-a/A-Pax6Sey-Dey (Changed: 15-DEC-04 ) Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Mating System F1 x Heterozygote (Female x Male) 01-MAR-06 TJL Breeding Summary: B6EiC3Sn-a/A F1 x heterozygote Species laboratory mouse Generation N65F1 (11-NOV-08) Appearance
small eyes, black
Related Genotype: Pax6Sey-Dey a/+ a
small eyes, agouti
Related Genotype: Pax6Sey-Dey A/+ ?
normal eyes, black
Related Genotype: + a/+ a
normal eyes, agouti
Related Genotype: + A/+ ?Description
Mice homozygous for the spontaneous semidominant Dickie's small eye mutation(Pax6Sey-Dey) die during embryogenesis. Heterozygous mutant mice are characterized by an overall small body size, small eyes with coloboma, small or lacking lens with cataract, abnormal folding of the retina and reduction of the pigment layer. The anterior chamber is usually missing. Mutations in the Pax6 gene lead to an impairment of axonal growth and differentiation, and delay migration of preneuronal cells. Optic nerve cross-sectional area and fiber count are decreased in these mutant mice, but probably indirectly as a consequence of reduced neural retina size. Formation of lens and of nasal cavity placodes are dependent on normal Pax6 expression.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying a allele
View Strains carrying a (104 strains)
Phenotype
Phenotype Information
Aniridia; AN - Models with phenotypic similarity to human disease where etiologies involve orthologs.1 NOT Peters Anomaly - Models with phenotypic similarity to human disease where etiologies involve orthologs.1 NOT Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome; WAGR - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
assigned by genotype
Pax6Sey-Dey/Pax6+
B6EiC3Sn a/A-Pax6Sey-Dey/J
- vision/eye phenotype
- abnormal corneal epithelium morphology (MGI Ref ID J:83791)
- the corneal epithelium is 1 to 7 cell layers thick instead of 8 to 10 as in wild-type mice
- reduction in cell layers is apparent at P14 and P21
- unlike in wild-type mice, basal cells are more rounded and the cell layers are not packed tightly
- no goblet cells are observed
- at 6 weeks, cell proliferation rates are increased (45% proliferative index compared to 4% proliferative index in wild-type mice)
- however, apoptosis rates are normal
- adhesion between cells in the suprabasal middle and superficial layers is disrupted
- abnormal corneal stroma morphology (MGI Ref ID J:83791)
- the stroma exhibits varied thickness and a general disorganizeation with large aggregates of laminn in the anterior region
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Pax6Sey-Dey/Pax6+
C3H/HeJ-Pax6Sey-Dey
- lethality-prenatal/perinatal
- neonatal lethality (MGI Ref ID J:6072)
- 5% of mice die 8 to 10 hours after birth
- vision/eye phenotype
- abnormal lens development (MGI Ref ID J:6072)
- lens pit development is delayed by 1 to 2 days relative to in wild-type mice
- fused cornea and lens (MGI Ref ID J:6072)
- abnormal retina morphology (MGI Ref ID J:6072)
- the retina is abnormally folded
- abnormal retinal pigment epithelium morphology (MGI Ref ID J:6072)
- mice have a reduced retinal pigment layer
- aniridia (MGI Ref ID J:10820)
- cataracts (MGI Ref ID J:6072)
- lens have anterior cataracts
- coloboma (MGI Ref ID J:6072)
- coloboma is visible by 11 days of gestation
- iris hypoplasia (MGI Ref ID J:6072)
- mice exhibit a partial or complete lose of iris tissue
- mice have an eye phenotype similar to aniridia
- microphthalmia (MGI Ref ID J:6072)
- mice have small eyes that are half the size of normal eyes
- the anterior chamber of the eye is missing
- small lens (MGI Ref ID J:6072)
- lens are small or absent
- nervous system phenotype
- exencephaly (MGI Ref ID J:6072)
- at day 7 to 8 of gestation 2 embryos were found with exencephaly
- pigmentation phenotype
- abnormal retinal pigment epithelium morphology (MGI Ref ID J:6072)
- mice have a reduced retinal pigment layer
- belly spot (MGI Ref ID J:6072)
- mice have a white spot on their sternum that extends into a belt in some mice
- hypopigmentation (MGI Ref ID J:6072)
- mice have reduced pigmentation on their feet and tails
- skin/coat/nails phenotype
- belly spot (MGI Ref ID J:6072)
- mice have a white spot on their sternum that extends into a belt in some mice
- growth/size phenotype
- decreased body size (MGI Ref ID J:6072)
- mice are 10 to 20% smaller in size than wild-type mice
- decreased fetal size (MGI Ref ID J:6072)
- mice are smaller than wild-type mice before birth and remain so the rest of their lives
- tumorigenesis
- *normal* tumorigenesis (MGI Ref ID J:10820)
- despite the loss of Wt1, no abnormal tumors are detected in mice
- renal/urinary system phenotype
- *normal* renal/urinary system phenotype (MGI Ref ID J:10820)
- mice have normal urogenital organs
Pax6Sey-Dey/Pax6+
involves: C3H/HeJ
- growth/size phenotype
- decreased body length (MGI Ref ID J:14117)
- heterozygous embryos are on average 13% smaller than wild-type littermates in crown-rump length
- vision/eye phenotype
- coloboma (MGI Ref ID J:14117)
- lethality-prenatal/perinatal
- prenatal lethality (MGI Ref ID J:14117)
- fewer than expected heterozygotes survive to birth
Pax6Sey-Dey/Pax6Sey-Dey
C3H/HeJ-Pax6Sey-Dey
- lethality-prenatal/perinatal
- embryonic lethality before somite formation (MGI Ref ID J:6072)
- embryos die between E6 and E7
Pax6Sey-Dey/Pax6Sey
involves: C3H/HeJ
- respiratory system phenotype
- absent olfactory placodes (MGI Ref ID J:14117)
- 23% of embryos from a heterozygous intercross show not development of nasal placodes
- taste/olfaction phenotype
- absent olfactory placodes (MGI Ref ID J:14117)
- 23% of embryos from a heterozygous intercross show not development of nasal placodes
- vision/eye phenotype
- absent lens vesicle (MGI Ref ID J:14117)
- 23% of embryos from a heterozygous intercross show no development of the lens
- coloboma (MGI Ref ID J:14117)
- approximately a third of the embryos 14.5 days or older from heterozygous intercrosses are colobomatous
This mouse can be used to support research in many areas including:Pax6Sey-Dey related
Developmental Biology Research
Neurodevelopmental Defects
Mouse/Human Gene Homologs
aniridia type II
Neurobiology Research
Neurodevelopmental Defects
Sensorineural Research
Cataracts
cortical
Eye Defects
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Pax6Sey-Dey | ||
|---|---|---|---|
| Allele Name | small eye, Dickie | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | SeyDey; | ||
| Strain of Origin | C3H/HeJ | ||
| Gene Symbol and Name | Pax6, paired box gene 6 | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | 1500038E17Rik; AEY11; AN; AN2; D11S812E; Dey; Dickie's small eye; Gsfaey11; MGC17209; MGDA; Pax-6; RIKEN cDNA 1500038E17 gene; Sey; WAGR; gsf abnormal eyes 11; small eye; | ||
| General Note | Pax6Sey-Dey is very similar to Pax6Sey-H in its effects in both homozygotes and heterozygotes. | ||
| Molecular Note | A large deletion that also includes the neighboring Wilm's tumor gene (Wt1). Precise breakpoints have not been mapped. [MGI Ref ID J:10820] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Hill RE; Favor J; Hogan BL; Ton CC; Saunders GF; Hanson IM; Prosser J; Jordan T; Hastie ND; van Heyningen V. 1991. Mouse small eye results from mutations in a paired-like homeobox-containing gene [published erratum appears in Nature 1992 Feb 20;355(6362):750] Nature 354(6354):522-5. [PubMed: 1684639] [MGI Ref ID J:2301]
Theiler K; Varnum DS; Stevens LC. 1978. Development of Dickie's small eye, a mutation in the house mouse. Anat Embryol (Berl) 155(1):81-6. [PubMed: 103464] [MGI Ref ID J:6072]
Pax6Sey-Dey relatedCurto GG; Lara JM; Parrilla M; Aijon J; Velasco A. 2007. Modifications of the retina neuronal populations of the heterozygous mutant small eye mouse, the Sey(Dey). Brain Res 1127(1):163-76. [PubMed: 17113047] [MGI Ref ID J:116600]
Davis J; Duncan MK; Robison WG Jr; Piatigorsky J. 2003. Requirement for Pax6 in corneal morphogenesis: a role in adhesion. J Cell Sci 116(Pt 11):2157-67. [PubMed: 12692153] [MGI Ref ID J:83791]
Davisson MT. 1986. Position of Dey on Chr 2 Mouse News Lett 75:30-31. [MGI Ref ID J:14099]
Glaser T; Lane J; Housman D. 1990. A mouse model of the aniridia-Wilms tumor deletion syndrome. Science 250(4982):823-7. [PubMed: 2173141] [MGI Ref ID J:10820]
Harbers K; Soriano P; Muller U; Jaenisch R. 1986. High frequency of unequal recombination in pseudoautosomal region shown by proviral insertion in transgenic mouse. Nature 324(6098):682-5. [PubMed: 3025741] [MGI Ref ID J:8543]
Hogan BL; Hetherington CM; Lyon MF. 1987. Allelism of small eyes (Sey) with Dickie's small eye (Dey) on Chromosome 2. Mouse News Lett 77:135-8. [MGI Ref ID J:14117]
Kim J; Lauderdale JD. 2008. Overexpression of pairedless Pax6 in the retina disrupts corneal development and affects lens cell survival. Dev Biol 313(1):434-54. [PubMed: 18062951] [MGI Ref ID J:130501]
Lovicu FJ; Steven P; Saika S; McAvoy JW. 2004. Aberrant lens fiber differentiation in anterior subcapsular cataract formation: a process dependent on reduced levels of Pax6. Invest Ophthalmol Vis Sci 45(6):1946-53. [PubMed: 15161862] [MGI Ref ID J:134694]
Ma C; Papermaster D; Cepko CL. 1998. A unique pattern of photoreceptor degeneration in cyclin D1 mutant mice. Proc Natl Acad Sci U S A 95(17):9938-43. [PubMed: 9707579] [MGI Ref ID J:49399]
Theiler K; Varnum DS; Stevens LC. 1978. Development of Dickie's small eye, a mutation in the house mouse. Anat Embryol (Berl) 155(1):81-6. [PubMed: 103464] [MGI Ref ID J:6072]
Varnum D; Stevens. 1974. Dickie's small eye (Dey) Mouse News Lett 50:43. [MGI Ref ID J:24775]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Room Number FGB29
Colony Maintenance
Mating System F1 x Heterozygote (Female x Male) 01-MAR-06 TJL Breeding Summary: B6EiC3Sn-a/A F1 x heterozygote
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
|
Weeks of Age Price (US dollars $) Gender Genotypes Provided Individual Mouse $136.60 Female or Male Heterozygous for Pax6Sey-Dey
Pairs /Price (US dollars $) Pair Genotype $230.70 B6EiC3SnF1/J (001875) x Heterozygous for Pax6Sey-Dey
Additional Supply Details
| Pricing for International shipping destinations |
|
Weeks of Age Price (US dollars $) Gender Genotypes Provided Individual Mouse $177.60 Female or Male Heterozygous for Pax6Sey-Dey
Pairs /Price (US dollars $) Pair Genotype $300.00 B6EiC3SnF1/J (001875) x Heterozygous for Pax6Sey-Dey
Additional Supply Details
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Supply Details
| Standard Supply | Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of approximately nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within two business days following order placement. |
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| Supply Notes |
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Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.Ordering and Purchasing Information
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