Most of exon 2, all of intron 2 and 102 bp of exon 3, encoding for amino acids 11-132, were deleted in an ES cell line that carried Rxratm1Ipc . A floxed hygro cassette (between exons 2 and 4) and a floxed neo cassette (between exons 9 and 10) were removed by Cre mediated recombination. The final mutant allele lacks both transcriptional activating function 1 and 2. Northern and Western blot analysis confirmed the expression of a truncated mRNA and protein in homozygous and heterozygous embryos. Expression levels of both the truncated mRNA and protein are lower than those for the wild-type mRNA and protein. (J:146761)
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