Description

Strain Information

Former Names 129S/Sv-Vsx2or-J/J    (Changed: 19-DEC-07 ) 129S/Sv-Chx10or-J/J    (Changed: 29-AUG-07 ) Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Mating System Homozygote x Heterozygote         (Female x Male) Species laboratory mouse

Appearance
white-bellied agouti
Related Genotype: A^w/A^w

Control Information

	Control
	Heterozygote from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying   Vsx2^or-J allele

000822

B6 x 129S1/SvEi Oca2+ Tyr+-Vsx2or-J/J

View Strains carrying   Vsx2^or-J     (1 strain)

Strains carrying other alleles of Vsx2

001504

NOR2/LtDn-Vsx2or-2J/J

View Strains carrying other alleles of Vsx2     (1 strain)

Additional Web Information

New 129 Nomenclature Bulletin

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Vsx2^or-J/Vsx2^or-J

        129S1/Sv

• vision/eye phenotype
• abnormal eye development (MGI Ref ID J:5767)
  • by E12 the optic fissure has a thickened inner wall and appears as a plug of retinal layer material
  • in comparison to wildtype only a few necrotic sites are observed in retinal anlage at E12 and existing necrotic sites are restricted to optic stalk
  • hyaloid artery is reduced in homozygotes at E11.5
• abnormal lens development (MGI Ref ID J:5767)
  • homozygotes exhibit delayed lens formation
• abnormal optic cup morphology (MGI Ref ID J:5767)
• abnormal optic stalk morphology (MGI Ref ID J:5767)
  • stalk is reduced in size or absent by E13
• abnormal retinal progenitor morphology (MGI Ref ID J:5767)
• absent optic nerve (MGI Ref ID J:5767)
  • at weaning, mice have a layer of connective tissue in place of the optic nerve
• disorganized retinal layers (MGI Ref ID J:5767)
  • retinal layers are uneven and normal cell layers are missing
• eyelids fail to open (MGI Ref ID J:5767)
• microphthalmia (MGI Ref ID J:5767)
  • small eyes are observed by E12
• reduced eye pigmentation (MGI Ref ID J:5767)
• small lens (MGI Ref ID J:5767)
  • lens is reduced in size and fills most of eyecup
• nervous system phenotype
• absent optic nerve (MGI Ref ID J:5767)
  • at weaning, mice have a layer of connective tissue in place of the optic nerve
• pigmentation phenotype
• reduced eye pigmentation (MGI Ref ID J:5767)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Vsx2^or-J related

Mouse/Human Gene Homologs
non-syndromic microphthalmia, cataracts and iris abnormalities

Sensorineural Research
Eye Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Vsx2or-J
Allele Name		ocular retardation Jackson
Allele Type		Spontaneous
Common Name(s)		Chx10-; orJ;
Strain of Origin		129S1/Sv-Oca2<+> Tyr<+> Kitl
Gene Symbol and Name		Vsx2, visual system homeobox 2
Chromosome		12
Gene Common Name(s)		C. elegans ceh-10 homeo domain containing homolog; CHX10; Chx10; HOX10; Hox-10; MCOP2; MCOPCB3; RET1; homeo box 10 cluster; ocular retardation; or;
General Note		Adult homozygotes resemble adult Chx10or/Chx10or mice. Beginning at 10.5 days of gestation there is much cell death in the normal retina but none in that of Chx10or-J/Chx10or-J mice (J:5966, J:5767). Intercellular channels form in the normal retina and continue along the optic stalk, and the optic nerve grows out of the eye through these channels. Presumably as a result of lack of cell death, the intercellular channels are much reduced in Chx10or-J/Chx10or-J eyes. This may be responsible for absence of the optic nerve (J:6121). Chx10or-J/Chx10or-J homozygotes are fully fertile in both sexes (J:30714).
Molecular Note		The molecular mutation is a premature stop codon in exon 3, corresponding to the homeobox domain of the encoded protein. [MGI Ref ID J:30800] [MGI Ref ID J:32083]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Additional References

Bone-Larson C; Basu S; Radel JD; Liang M; Perozek T; Kapousta-Bruneau N; Green DG; Burmeister M; Hankin MH. 2000. Partial rescue of the ocular retardation phenotype by genetic modifiers J Neurobiol 42(2):232-47. [PubMed: 10640330]  [MGI Ref ID J:60051]

Burmeister M; Novak J; Liang MY; Basu S; Ploder L; Hawes NL; Vidgen D; Hoover F; Goldman D; Kalnins VI; Roderick TH; Taylor BA; Hankin MH; McInnes RR. 1996. Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation. Nat Genet 12(4):376-84. [PubMed: 8630490]  [MGI Ref ID J:32083]

Vsx2^or-J related

Bharti K; Liu W; Csermely T; Bertuzzi S; Arnheiter H. 2008. Alternative promoter use in eye development: the complex role and regulation of the transcription factor MITF. Development 135(6):1169-78. [PubMed: 18272592]  [MGI Ref ID J:132153]

Bone-Larson C; Basu S; Radel JD; Liang M; Perozek T; Kapousta-Bruneau N; Green DG; Burmeister M; Hankin MH. 2000. Partial rescue of the ocular retardation phenotype by genetic modifiers J Neurobiol 42(2):232-47. [PubMed: 10640330]  [MGI Ref ID J:60051]

Burmeister M; Novak J; Basu S; Ploder L; Liang M; Hawes N; Taylor B; Roderick T; Goldman D; Hankin M; McInnes R. 1994. Ocular retardation (or<J>) has a premature stop codon in the homeobox gene (Chx10). 8th International Mouse Genome Conference, London :24 (Abstr.).  [MGI Ref ID J:30800]

Burmeister M; Novak J; Liang MY; Basu S; Ploder L; Hawes NL; Vidgen D; Hoover F; Goldman D; Kalnins VI; Roderick TH; Taylor BA; Hankin MH; McInnes RR. 1996. Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation. Nat Genet 12(4):376-84. [PubMed: 8630490]  [MGI Ref ID J:32083]

Clark AM; Yun S; Veien ES; Wu YY; Chow RL; Dorsky RI; Levine EM. 2008. Negative regulation of Vsx1 by its paralog Chx10/Vsx2 is conserved in the vertebrate retina. Brain Res 1192:99-113. [PubMed: 17919464]  [MGI Ref ID J:131879]

Coles BL; Horsford DJ; McInnes RR; van der Kooy D. 2006. Loss of retinal progenitor cells leads to an increase in the retinal stem cell population in vivo. Eur J Neurosci 23(1):75-82. [PubMed: 16420417]  [MGI Ref ID J:105261]

Dhomen NS; Balaggan KS; Pearson RA; Bainbridge JW; Levine EM; Ali RR; Sowden JC. 2006. Absence of chx10 causes neural progenitors to persist in the adult retina. Invest Ophthalmol Vis Sci 47(1):386-96. [PubMed: 16384989]  [MGI Ref ID J:104265]

Gao L; Miller RH. 2006. Specification of optic nerve oligodendrocyte precursors by retinal ganglion cell axons. J Neurosci 26(29):7619-28. [PubMed: 16855089]  [MGI Ref ID J:110658]

Gouge A; Holt J; Hardy AP; Sowden JC; Smith HK. 2001. Foxn4 - a new member of the forkhead gene family is expressed in the retina. Mech Dev 107(1-2):203-6. [PubMed: 11520680]  [MGI Ref ID J:71345]

Horsford DJ; Nguyen MT; Sellar GC; Kothary R; Arnheiter H; McInnes RR. 2005. Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity. Development 132(1):177-87. [PubMed: 15576400]  [MGI Ref ID J:94374]

Jones BW; Watt CB; Frederick JM; Baehr W; Chen CK; Levine EM; Milam AH; Lavail MM; Marc RE. 2003. Retinal remodeling triggered by photoreceptor degenerations. J Comp Neurol 464(1):1-16. [PubMed: 12866125]  [MGI Ref ID J:84675]

Khachab MY; Bruce LL. 1999. The development of corticocollicular projections in anophthalmic mice. Brain Res Dev Brain Res 114(2):179-92. [PubMed: 10320757]  [MGI Ref ID J:109169]

Khachab MY; Bruce LL. 1999. The maturation of corticocollicular neurons in mice. Brain Res Dev Brain Res 112(1):145-8. [PubMed: 9974169]  [MGI Ref ID J:109173]

Kokkinopoulos I; Pearson RA; Macneil A; Dhomen NS; Maclaren RE; Ali RR; Sowden JC. 2008. Isolation and characterisation of neural progenitor cells from the adult Chx10(orJ/orJ) central neural retina. Mol Cell Neurosci 38(3):359-73. [PubMed: 18514541]  [MGI Ref ID J:137047]

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]

Prochazka M; Leiter EH; Cook S; Davisson MT; Bronson R. 1990. or-2J; a new remutation at ocular retardation (or) associated with sterility Mouse Genome 87:93.  [MGI Ref ID J:30714]

Rhoades RW; Mooney RD; Fish SE. 1984. A comparison of visual callosal organization in normal, bilaterally enucleated and congenitally anophthalmic mice. Exp Brain Res 56(1):92-105. [PubMed: 6468571]  [MGI Ref ID J:45405]

Robb RM; Silver J; Sullivan RT. 1978. Ocular retardation (or) in the mouse. Invest Ophthalmol Vis Sci 17(5):468-73. [PubMed: 640793]  [MGI Ref ID J:5966]

Rowan S; Cepko CL. 2005. A POU factor binding site upstream of the Chx10 homeobox gene is required for Chx10 expression in subsets of retinal progenitor cells and bipolar cells. Dev Biol 281(2):240-55. [PubMed: 15893976]  [MGI Ref ID J:98542]

Rowan S; Cepko CL. 2004. Genetic analysis of the homeodomain transcription factor Chx10 in the retina using a novel multifunctional BAC transgenic mouse reporter. Dev Biol 271(2):388-402. [PubMed: 15223342]  [MGI Ref ID J:91498]

Rowan S; Chen CM; Young TL; Fisher DE; Cepko CL. 2004. Transdifferentiation of the retina into pigmented cells in ocular retardation mice defines a new function of the homeodomain gene Chx10. Development 131(20):5139-52. [PubMed: 15459106]  [MGI Ref ID J:93571]

Rutherford AD; Dhomen N; Smith HK; Sowden JC. 2004. Delayed expression of the Crx gene and photoreceptor development in the Chx10-deficient retina. Invest Ophthalmol Vis Sci 45(2):375-84. [PubMed: 14744875]  [MGI Ref ID J:87739]

Sigulinsky CL; Green ES; Clark AM; Levine EM. 2008. Vsx2/Chx10 ensures the correct timing and magnitude of Hedgehog signaling in the mouse retina. Dev Biol 317(2):560-75. [PubMed: 18417110]  [MGI Ref ID J:135151]

Silver J; Robb RM. 1979. Studies on the development of the eye cup and optic nerve in normal mice and in mutants with congenital optic nerve aplasia. Dev Biol 68(1):175-90. [PubMed: 437315]  [MGI Ref ID J:6121]

Theiler K; Varnum DS; Nadeau JH; Stevens LC; Cagianut B. 1976. A new allele of ocular retardation: early development and morphogenetic cell death. Anat Embryol (Berl) 150(1):85-97. [PubMed: 827941]  [MGI Ref ID J:5767]

Wong G; Conger SB; Burmeister M. 2006. Mapping of genetic modifiers affecting the eye phenotype of ocular retardation (Chx10(or-J)) mice. Mamm Genome 17(6):518-25. [PubMed: 16783634]  [MGI Ref ID J:109796]

de Melo J; Du G; Fonseca M; Gillespie LA; Turk WJ; Rubenstein JL; Eisenstat DD. 2005. Dlx1 and Dlx2 function is necessary for terminal differentiation and survival of late-born retinal ganglion cells in the developing mouse retina. Development 132(2):311-22. [PubMed: 15604100]  [MGI Ref ID J:95327]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           A1

Colony Maintenance

Mating System	Homozygote x Heterozygote         (Female x Male)

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

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 ~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 48 hours of order placement.

Supply Notes

Usually shipped between four and eight weeks of age. This strain is included in the Eye Mutant Resource within the Mouse Mutant Resource collection. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Heterozygote 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.

General Terms and Conditions

See Terms of Use

The Jackson Laboratory's Genotype Promise

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.

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