Purchase this article with an account.
Sophie I. Candille, Machelle T. Pardue, Maureen A. McCall, Neal S. Peachey, Ronald G. Gregg; Localization of the Mouse nob (no b-wave) Gene to the Centromeric Region of the X Chromosome. Invest. Ophthalmol. Vis. Sci. 1999;40(11):2748-2751.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
purpose. To determine the position on the X chromosome of the gene responsible
for a spontaneous mouse mutation, nob (no
b-wave), which matches the phenotype of complete X-linked
congenital stationary night blindness (CSNB) type 1 in human.
methods. Inter- and intraspecific pedigrees were generated, and the phenotype of
each mouse was scored on the basis of either the presence or the
absence of an electroretinographic b-wave. DNA was isolated from a tail
biopsy from each mouse and was used to determine the genotype at
various polymorphic markers on the X chromosome. LOD scores
(Z) between the nob phenotype and each marker
were calculated to determine the most probable location of the nob gene.
results. A total of 174 informative offspring were analyzed. The nob gene is tightly linked to DXMit103 with a maximum
LOD score of 25.9 at a recombination fraction of zero. This marker is
located at 4.2 cM on the X chromosome of the mouse map. Haplotype
analyses of several recombinant chromosomes in the region indicates
that the nob gene maps between DXMit54 (3.8 cM) and
Ube1x (5.7 cM).
conclusions. The genetic position of the mouse nob gene overlaps the
homologous region in human that contains the locus for CSNB1 and
excludes the region of CSNB2. Further studies are planned to identify
the mouse nob gene and to evaluate it as a candidate for
This PDF is available to Subscribers Only