Figure 3. Identification of L7Q mutation
in connexin 50 of Dca rats. A: F2 (SHR-Dca x PD)
animals (n=93) are categorized according to their genotypes, with
number of animals in each category below. Alleles of SHR-Dca
origin are indicated in white, alleles of PD origin are in dark gray,
and heterozygous state is indicated by medium gray color. The
corresponding linkage map with distances in cM (Kosambi map function)
is shown on the right. The Dca gene is inherited in a Mendelian
fashion as semi-dominant (ratio in F2 1:2:1,
microphthalmia:cataract:normal, χ2=0.96, p=0.62). Dca
maps to chromosome 2. There is no recombination between Dca and
D2Arb20. The critical interval containing the Dca gene is
localized between D2Rat134 and D2Rat186 and spans 3.9 cM. The
corresponding chromosomal segment has 8.6 Mbp. B: Sequencing of
the Gja8 gene is shown. A mutation (T to A transversion in
codon 7 of Cx50) results in the substitution of leucine for glutamine
(L7Q) in Dca/Dca animals. +/Dca heterozygotes are also
heterozygotes for L7Q.
