B6 x 129S1/SvEi Oca2⁺ Tyr⁺-Vsx2^or-J/J

Stock number: 000822
Product name: ocular retardation Jackson
Research areas: Dermatology Research, Mouse/Human Gene Homologs, Sensorineural Research

Description

These mice carry a spontaneous mutation at the Vsx2 locus characterized by microphthalmia, a thin hypocellular retina, and optic nerve aplasia

Detailed description

Ocular retardation (Vsx2^or-J) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic nerve aplasia. When expressed on an inbred 129/Sv strain, the Vsx2^or-J phenotype is characterized by microphthalmia and a thin, poorly differentiated retina in which the peripheral portion is affected to a greater extent than the central portion. Such mutant retinae lack differentiated bipolar cells and the optic nerve typically fails to form, leading to blindness.

Development

The Vsx2^or-J mutation arose on a 129/Sv strain carrying wild type alleles for albino ( Tyr⁺) and pink eye (Oca2⁺). Embryos for cryopreservation were produced by mating males homozygous for Vsx2^or-J to C57BL/6J females in 1984.

Allele

Symbol: Oca2⁺
Name: wild type
MGI accession ID: MGI:2383978
Generation method: Not Applicable
Marker symbol: Oca2
Marker name: oculocutaneous albinism II
Marker synonyms: BEY; BEY1; BEY2; BOCA; D15S12; D7H15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1; SLC13B1
Chromosome: 7
Strain of origin: Not Applicable

Allele

Symbol: Tyr⁺
Name: wild type
MGI accession ID: MGI:2432472
Generation method: Not Applicable
Marker symbol: Tyr
Marker name: tyrosinase
Marker synonyms: ATN; CMM8; Oca1; OCA1A; OCAIA; SHEP3; skc35
Chromosome: 7
Strain of origin: Not Applicable

Allele

Symbol: Vsx2^or-J
Name: ocular retardation Jackson
MGI accession ID: MGI:1856112
Generation method: Spontaneous
Synonyms: Chx10^-; orJ
Marker symbol: Vsx2
Marker name: visual system homeobox 2
Marker synonyms: CHX10; Hox10; Hox-10; MCOP2; MCOPCB3; RET1
Chromosome: 12
Strain of origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl^Sl
Molecular note: The molecular mutation is a premature stop codon in exon 3, corresponding to the homeobox domain of the encoded protein.