129S1/Sv-Vsx2^or-J/J

Stock number: 000395
Research areas: Mouse/Human Gene Homologs, Sensorineural Research

Description

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.

Detailed 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⁺ Kitl^Sl-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.

Allele

Symbol: Vsx2^or-J
Name: ocular retardation Jackson
MGI accession ID: MGI:1856112
Generation method: Spontaneous
Marker symbol: Vsx2
Marker name: visual system homeobox 2
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.