Retroviral insertion into the Neph1
locus. (A) Structure of the gene trap vector integration site in the
Neph1 locus. The retroviral construct, which contains
flanking viral long terminal repeats (LTRs), is inserted in the intron
downstream of the ATG-containing Neph1 exon. Transcripts
initiating at the Neph1 promoter (indicated by an arrow
followed by broken and solid lines) encode a 4.5-kb message that
utilizes the splice acceptor (SA) site upstream of the β-geo fusion
gene. Transcripts initiating from the PGK promoter utilize the splice
donor site in the inserted heterologous exon 1-splice donor (SD)-intron
1 cassette and splice into the downstream Neph1 exon
(EX) to produce a roughly 8.7-kb RNA which is detectable only in ES
cells and is absent in vivo (see text). The heterologous exon 1 is a
noncoding exon that contains a natural in-frame stop codon (black
diamond) that eliminates the likelihood of expression of a protein from
the trapped Neph1 locus. A probe spanning the
ATG-containing exons and downstream exons of Neph1
(black bars) was used to perform the Northern blot shown in Fig. 2 and
3C. The OST sequence is represented by a double line. The primers used
to clone the Neph1–β-geo and the exon
1-Neph1 fusion transcript splice junctions are indicated
by arrows and are expected to produce 354- and 485-bp bands,
respectively; the sequence of the 5′ transcript is given in panel B.
(B) Sequence of the hybrid transcript spanning the splice junction of
the Neph1 ATG-containing exon and the β-geo-coding
region. The ATG in the Neph1 coding region (boldface) is
underlined, and the primers used for RT-PCR of this fragment are
designated by broken arrows. (C) Northern blot of kidney RNA obtained
from 1-day-old mice bearing either one copy (+/−) or two
copies (−/−) of the trapped Neph1 locus.
The blot, hybridized with a probe spanning the Neph1
ATG-containing and downstream exons (see panel A), shows RNA
transcripts of 9 and 4.5 kb. (D) Ethidium bromide-stained gel showing
RT-PCR products from the heterologous exon 1-Neph1
fusion transcripts. Lane 1 contains molecular-weight standards. The
expected band size of 485 bp (see panel A) is clearly observed in the
RNA samples from the ES cell line with the Neph1
mutation (lanes 2 and 3). This band is undetectable in kidney RNA from
Neph1+/+ and
Neph1+/− mice (lanes 4 and 6, respectively)
and is negligible in kidney RNA from
Neph1−/− mice (lane 5).