Pde6brd1, the recessive retinal degeneration 1 mutation, is segregating in this colony. Animals that are homozygous for rd1 will be blind.
Ts(16C-tel)1Cje trisomic mice display decreased exploratory behavior and have spatial learning deficits detectable in the hidden platform and probe versions of the Morris water maze. These learning deficits are less severe than those of mice carrying Ts(1716)Dn (Ts65Dn, Stock No. 001924 or 005252) with a larger distal Chr 16 translocation. The degeneration of basal forebrain cholinergic neurons that is found in Ts65Dn trisomic mice has not been found by six months of age in mice carrying Ts(16C-tel)1Cje. Additionally, the male sterility found in Ts65Dn mice is not a phenotype associated with Ts(16C-tel)1Cje (Sago et al., 1998). Despite having fewer trisomic genes, Ts(16C-tel)1Cje carriers display much of the same craniofacial dysmorphology as that found in Ts(1716)Dn, which includes brachycephaly, reduced interorbital breadth, and smaller mandible (Richtsmeier et al., 2002). The Clcc1m1J spontaneous mutation, which causes increased sensitivity to endoplasmic reticulum stress in the cerebellum, is a homozygous strain characteristic of C3H/HeSnJ (Jia et al., 2015) so is segregating in this strain.
The Ts(16C-tel)1Cje trisomy was derived from a chromosomal translocation that was identified in the Laboratory of Dr. Charles Epstein during the screening that followed the creation of the tm1Cje targeted mutation of Sod1 on Chr 16. This targeted disruption was done in CB1-4 ES cells which were derived from the embryos of a C57BL/6J female bred to an (Rb(11.16)2H x Rb(16.17)32Lub) F1 male, and the founders were backcrossed to CD1 for several generations. In these progeny, a sub-population of mice was found that carried the neomycin resistance gene indicative of the targeted disruption of Sod1 but the mice had normal levels of copper-zinc superoxide dismutase activity. FISH analysis revealed an Sod1tm1Cje-bearing translocation of distal Chr 16 onto Chr 12, which was named T(12;16)1Cje (Stock No. 004838). By breeding translocation carriers to wild-type mice, a partial trisomy line (designated Ts(16C-tel)1Cje) was generated harboring two wild-type Chr 16 copies and an additional copy of distal Chr 16 translocated onto Chr 12. Further analysis also reveals a small deletion of the telomeric part of Chr 12, with a translocation breakpoint between positions 119,278,499 and 119,289,499, in the Dnahc11 gene, between exons 35 and 41. Approximately half of this gene is truncated, leading to a monosomy that encompasses all the genes located downstream toward the telomeric end of mouse Chr 12.
The Ts(16C-tel)1Cje strain was then backcrossed onto C57BL/6J by the Donating Investigator. In 1997, N10 carriers were sent to The Jackson Laboratory where they were backcrossed to C57BL/6J for 9 generations and then to C57BL/6JEiJ (003645) for several more generations. However, viability on the inbred background was severely reduced. Therefore, it was bred to B6EiC3SnF1/J (001875) mice henceforth to produce the current Ts(16C-tel)1Cje strain (004861), which has a genetic background comparable to that of the Ts65Dn trisomic strains (001924 and 005252).
In 2007, embryos were generated for cryopreservation via in vitro fertilization using B6EiC3SnF1/J females and trisomic males.
|Allele Name||trisomy, (16C-tel), 1 Charles J Epstein|
|Allele Synonym(s)||partial trisomy 16; Ts(1216)1Cje; Ts108Cje; Ts1Cje|
|Gene Symbol and Name||Ts(16C-tel)1Cje, trisomy, (16C-tel), 1 Charles J Epstein|
|Strain of Origin||C57BL/6J x (Rb(11.16)2H x Rb(16.17)32Lub)F1|
|Molecular Note||This chromosomal trisomy comprises two normal Chr 16s and the reciprocal translocation product 1216. Mice are trisomic for the cytogenetic interval 16C-tel and the genetic interval Sod1 to Mx1. Sod1 is not functionally trisomic because the Sod1 gene in the translocated segment is inactivated by the insertion of the neomycin resistance sequence. The Ts1Cje mouse model ofDown syndrome is trisomic for 94 genes on Mmu16, covering approximately two-thirds of the trisomic region in Ts65Dn mice.|
When using the Ts1Cje mouse strain in a publication, please cite the originating article(s) and include JAX stock #004861 in your Materials and Methods section.