Five exons were replaced with a neomycin selection cassette inserted by homologous recombination. The deletion was reported to disrupt the telomerase-specific motif as well as the first three of the seven reverse transcriptase motifs. Transcript was undetected in homozygous mutant ES cells and in testicular tissue from first generation homozygous mutant mice, as shown by RT-PCR analysis. No telomerase activity was detected in homozygous mutant ES cell clones and in tissue extracts from homozygous mutant testes, liver, thymus, lung and kidney, as determined by TRAP analysis. (J:90866)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count