Strain Name:

129S1/Sv-Vsx2or-J/J

Stock Number:

000395

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Research Strain

Ocular retardation Jackson (or-J) is a spontanous mutation in Vsx2 (visual system homeobox 2), homozygotes exhibit small eyes with closed lids, reduced lens size, abnormal retinal layers and the absence of the optic nerve. This mutant mouse strain may be useful in studies of eye development.

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 and Mutant Mice.
Visit our online Nomenclature tutorial.
Mating SystemHomozygote x Homozygote         (Female x Male)   22-JAN-13
Specieslaboratory mouse
GenerationF?+14 (27-JUN-14)
Generation Definitions

Appearance
white-bellied agouti
Related Genotype: Aw/Aw

Description
Vsx2 (visual system homeobox 2) or CHX10 encodes a homeodomain protein expressed (in human) in the progenitor cells of the neuroretina and in the inner nuclear layer of the mature retina. Mutations in VSX2 are associated with microphthalmia, cataracts and iris abnormalities. Similar to the original ocular retardation (or) allele, mice homozygous for ocular retardation Jackson (or-J) exhibit small eyes with closed lids, reduced lens size, abnormal retinal layers and the absence of the optic nerve. Mutants can be identified at E12 by small eyes and a thickening of the inner wall of the optic fissure. This mutant mouse strain may be useful in studies of eye development.

Development
The ocular retardation Jackson or-J mutation arose spontaneously on the 129S1/Sv-Oca2+ Tyr+ KitlSl-J background at The Jackson Laboratory in 1975. The mutation was later identified as a premature stop codon (C to A transversion that alters codon 176 from tyrosine to a stop) in exon 3 of the homeobox domain of visual system homeobox 2 (Vsx2) gene.

Control Information

  Control
   002448 129S1/SvImJ (approximate)
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Vsx2or-J allele
000822   B6 x 129S1/SvEi Oca2+ Tyr+-Vsx2or-J/J
View Strains carrying   Vsx2or-J     (1 strain)

Strains carrying other alleles of Vsx2
026200   129S1.Cg-Tg(Vsx2-cre)2690Chow/J
001504   NOR2/LtDn-Vsx2or-2J/J
View Strains carrying other alleles of Vsx2     (2 strains)

Additional Web Information

New 129 Nomenclature Bulletin

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Microphthalmia, Isolated 2; MCOP2   (VSX2)
Microphthalmia, Isolated, with Coloboma 3; MCOPCB3   (VSX2)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Vsx2or-J/Vsx2or-J

        129S1/Sv
  • vision/eye phenotype
  • abnormal eye development
    • in comparison to wild-type only a few necrotic sites are observed in retinal anlage at E12 and existing necrotic sites are restricted to optic stalk   (MGI Ref ID J:5767)
    • abnormal hyaloid artery morphology
      • hyaloid artery is reduced in homozygotes at E11.5   (MGI Ref ID J:5767)
    • abnormal lens development
      • homozygotes exhibit delayed lens formation   (MGI Ref ID J:5767)
    • abnormal optic cup morphology   (MGI Ref ID J:5767)
    • abnormal optic fissure morphology
      • by E12 the optic fissure has a thickened inner wall and appears as a plug of retinal layer material   (MGI Ref ID J:5767)
    • abnormal optic stalk morphology
      • stalk is reduced in size or absent by E13   (MGI Ref ID J:5767)
    • abnormal retinal progenitor cell morphology   (MGI Ref ID J:5767)
  • absent optic nerve
    • at weaning, mice have a layer of connective tissue in place of the optic nerve   (MGI Ref ID J:5767)
  • decreased eye pigmentation   (MGI Ref ID J:5767)
  • disorganized retinal layers
    • retinal layers are uneven and normal cell layers are missing   (MGI Ref ID J:5767)
  • eyelids fail to open   (MGI Ref ID J:5767)
  • microphthalmia
    • small eyes are observed by E12   (MGI Ref ID J:5767)
  • small lens
    • lens is reduced in size and fills most of eyecup   (MGI Ref ID J:5767)
  • nervous system phenotype
  • absent optic nerve
    • at weaning, mice have a layer of connective tissue in place of the optic nerve   (MGI Ref ID J:5767)
  • pigmentation phenotype
  • decreased eye pigmentation   (MGI Ref ID J:5767)

Vsx2or-J/Vsx2or-J

        involves: 129S1/Sv
  • vision/eye phenotype
  • abnormal retina morphology   (MGI Ref ID J:190452)
    • abnormal retinal development
      • onset of neurogenesis is delayed by 1-2 days in the retina   (MGI Ref ID J:190452)
    • abnormal retinal pigment epithelium morphology
      • abnormal retinal pigmentation
        • ectopic pigmentation of the retina   (MGI Ref ID J:190452)
    • decreased total retina thickness   (MGI Ref ID J:190452)
  • microphthalmia
    • by E11.5   (MGI Ref ID J:190452)
    • becomes progressively more severe with age   (MGI Ref ID J:190452)
  • small lens   (MGI Ref ID J:190452)
  • pigmentation phenotype
  • abnormal retinal pigment epithelium morphology
    • abnormal retinal pigmentation
      • ectopic pigmentation of the retina   (MGI Ref ID J:190452)
View Research Applications

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

Vsx2or-J related

Sensorineural Research
Eye Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Vsx2or-J
Allele Name ocular retardation Jackson
Allele Type Spontaneous
Common Name(s) Chx10-; orJ;
Strain of Origin129S1/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).
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


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

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]

Vsx2or-J related

Behesti H; Papaioannou VE; Sowden JC. 2009. Loss of Tbx2 delays optic vesicle invagination leading to small optic cups. Dev Biol 333(2):360-72. [PubMed: 19576202]  [MGI Ref ID J:152494]

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]

Chang B; Hawes NL; Hurd RE; Wang J; Howell D; Davisson MT; Roderick TH; Nusinowitz S; Heckenlively JR. 2005. Mouse models of ocular diseases. Vis Neurosci 22(5):587-93. [PubMed: 16332269]  [MGI Ref ID J:156373]

Cicero SA; Johnson D; Reyntjens S; Frase S; Connell S; Chow LM; Baker SJ; Sorrentino BP; Dyer MA. 2009. Cells previously identified as retinal stem cells are pigmented ciliary epithelial cells. Proc Natl Acad Sci U S A 106(16):6685-90. [PubMed: 19346468]  [MGI Ref ID J:148343]

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]

Livne-Bar I; Pacal M; Cheung MC; Hankin M; Trogadis J; Chen D; Dorval KM; Bremner R. 2006. Chx10 is required to block photoreceptor differentiation but is dispensable for progenitor proliferation in the postnatal retina. Proc Natl Acad Sci U S A 103(13):4988-93. [PubMed: 16547132]  [MGI Ref ID J:107659]

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]

Zou C; Levine EM. 2012. Vsx2 controls eye organogenesis and retinal progenitor identity via homeodomain and non-homeodomain residues required for high affinity DNA binding. PLoS Genet 8(9):e1002924. [PubMed: 23028343]  [MGI Ref ID J:190452]

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 SystemHomozygote x Homozygote         (Female x Male)   22-JAN-13

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $175.40Female or MaleHomozygous for Vsx2or-J  
Price per Pair (US dollars $)Pair Genotype
$350.75Homozygous for Vsx2or-J x Homozygous for Vsx2or-J  

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $228.10Female or MaleHomozygous for Vsx2or-J  
Price per Pair (US dollars $)Pair Genotype
$456.00Homozygous for Vsx2or-J x Homozygous for Vsx2or-J  

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain.

General Supply Notes

Control Information

  Control
   002448 129S1/SvImJ (approximate)
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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