A chromosomal translocation causing multiple abnormalities including open eyelids at birth and glomerulonephritis

作者：Guarnieri MH; Cacheiro NL; Rudofsky UH; Montgomery JC; Collins DN; Flaherty LA^*

来源：Mammalian Genome, 2002, 13(8): 416-422.

DOI：10.1007/s00335-002-2161-z

We have characterized the phenotype of a mouse with a t(2:13) reciprocal translocation induced by chlorambucil. It results in abnormal eyelid formation as well as a series of neurological, physiological, and immunological abnormalities. This mutant has been termed T(2;13)1Fla/+. T(2;13)1Fla/+ mice exhibit open eyelids at birth. a dilute coat color, hyperactivity. and occasional circling and stargazing activity, At 1-6 months, T(2;13)1Fla/+ mice show signs of immune complex-mediated glomerulonephritis and die prematurely. Additionally, double-stranded DNA autoantibodies have been found in sera of T(2;13)1Fla/+ mice.
Cytogenetic analysis situated the translocation breakpoint at the proximal end of Chromosome (chr) 2 at band A2, and on Chr 13 at band A4. The mutant phenotype completely correlated with the presence of the translocation. Additional genetic studies have mapped the mutation and translocation breakpoint to Chr 13 between D13Mit16 and D13Mit64, and to Chr 2 proximal to D2Mit5. By fluorescent in situ hybridization (FISH), the position of this mutation translocation on Chr 13 has been mapped to a region less than 1cM from D13Mit61.

• 出版日期2002-8