ABCMdb

PMID: 17192398

Pondarre C, Campagna DR, Antiochos B, Sikorski L, Mulhern H, Fleming MD
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.
Blood. 2007 Apr 15;109(8):3567-9. Epub 2006 Dec 27., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCB7 p.Glu433Lys ABCB7 p.Glu433Lys Materials and methods The generation of a conditionally targeted ("floxed") allele of Abcb7 (Abcb7fl) has been described previously.10 A targeted point mutant allele was made by site-directed mutagenesis (QuickChange; Stratagene, La Jolla, CA) of the original gene targeting construct to create a glutamic acid-to- lysine mutation at position 433 (E433K) of the mouse protein corresponding to the hematologically most severe, E433K, human allele.2 All exons and intron/exon boundaries were resequenced in the mutagenized targeting construct. Login to comment 7 ABCB7 p.Glu433Lys ABCB7 p.Glu433Lys Materials and methods The generation of a conditionally targeted ("floxed") allele of Abcb7 (Abcb7fl) has been described previously.10 A targeted point mutant allele was made by site-directed mutagenesis (QuickChange; Stratagene, La Jolla, CA) of the original gene targeting construct to create a glutamic acid-to- lysine mutation at position 433 (E433K) of the mouse protein corresponding to the hematologically most severe, E433K, human allele.2 All exons and intron/exon boundaries were resequenced in the mutagenized targeting construct. Login to comment 36 ABCB7 p.Glu433Lys In order to circumvent the bone marrow-dependent lethality, we created a targeted point mutant allele corresponding to the hematologically most severe human E433K mutation.2 Male chimeras were, however, infertile due to testicular atrophy and incomplete spermatogenesis associated with interstitial iron deposition (not shown), which is a phenotype not reported in human subjects with XLSA/A. Login to comment 37 ABCB7 p.Glu433Lys In order to circumvent the bone marrow-dependent lethality, we created a targeted point mutant allele corresponding to the hematologically most severe human E433K mutation.2 Male chimeras were, however, infertile due to testicular atrophy and incomplete spermatogenesis associated with interstitial iron deposition (not shown), which is a phenotype not reported in human subjects with XLSA/A. Login to comment