Exons 3 through 7 were replaced by a neomycin selection cassette inserted by homologous recombination. The deleted region encoded 245 amino acids encompassing the start codon, a conserved STAT motif, positively charged residues involved in intracellular anion binding, and the first 5 of the the 12 transmembrane domains. Neither transcript nor protein was detected in homozygous mice by RT-PCR and Western blot analyses. (J:79029)
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