ABCMdb

ABCC7 p.Thr94Ile

None has been submitted yet.

Publications

PMID: 11597137 [PubMed] Manson A et al: "Skipping of exon 9 of human CFTR in YAC-transgenic mice."

No. Sentence Comment

71 This is a missense mutation replacing threonine 94 with isoleucine (T94I) and should have no effect on the splicing of exon 9. Login to comment
72 We generated one line of mice, A10, with the YAC carrying the TG12T5 splice site and the R117T and T94I mutations. Login to comment
73 Another, 7T44, was generated with a YAC carrying the original TG10T7 splice site with the R117H and T94I mutations. Login to comment
79 However, we cannot determine whether this is due to the T94I mutation, the R117H mutation, and/or low splicing efficiency. Login to comment
80 As further controls, two cell lines (F7T.2 and F7T.5) were made with the YAC carrying the R117H and T94I mutations and the 7T splice site. Login to comment
94 mRNA (n)a of transgeneb TgN(yCFTR)T30Clh T30 TG10T7 2 0.108 (2) 11% TgN(yCFTR)T57Clh T57 TG10T7 1 0.109 (2) 22% TgN(yCFTR)A10Clh A10 TG12T5, R117H, T94I 6 0.205 (2) 7% TgN(yCFTR)7T44Clh 7T44 TG10T7, R117H, T94I nd nd nd Cell line name F7T.2 TG10T7, R117H, T94I 2 0.178 (2) 18% F7T.5 TG10T7, R117H, T94I 8 0.825 (3) 21% a Number of independent cDNA and RT-PCR reactions. Login to comment
125 The level of skipping of exon 9 in the lung, trachea, gall bladder, duodenum, colon, uterus, and epididymis of A10 mice (5Ts, R117H, and T94I) was quite uniform at about 91%. Login to comment
127 A10 differs from T30 not only at the splice site of exon 9, but also in having the R117H and T94I mutations in exon 4. Login to comment
128 To determine whether the R117H and T94I mutations were affecting splicing of exon 9, we also determined the level of skipping of exon 9 in the duodenum and testis of a 7T44 mouse. Login to comment
130 Although slightly higher than the values obtained for T30 mice, the R117H and T94I mutations do not account for the much higher levels of skipping in the A10 line than the T30 line. Login to comment
139 Our original intention was to also study the R117H missense mutation that was introduced into exon 4, but another missense mutation, T94I, was inadvertently introduced into exon 4 at the same time so the effect of the R117H mutation could not be studied. Login to comment
141 In this case, the presence of the R117H and T94I mutations in exon 4 has little effect on the level of skipping of exon 9 as indicated by the similar splicing in the lines T30 and 7T44, which differ only by the two mutations in exon 4 (Fig. 5). Login to comment
213 This point mutation causes a missense mutation, T94I, in the coded protein. Login to comment