The transgene comprises a yeast artificial chromosome (YAC) from the CEPH Whole Genome MegaYAC Library carrying a 570-kb fragment of DNA from human Chromosome 21 containing the genes TTC3 (tetratricopeptide repeat domain 3), DSCR3 (Down syndrome critical region gene 3) and DYRK1A (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A). The potassium inwardly-rectifying channel, subfamily J, member 6 gene, KCNJ6 (also called GIRK2, KIR3.2 or HUM21ES123), which is present in this YAC, is expressed in the brain both in humans and in mice bearing the YAC as a transgene. This transgenic line was shown by length-adjusted quantitative Southern blot analysis to carry a single copy of the YAC. (J:128897)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count