Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	DstGt(E182H05)Wrst
Name:	dystonin; gene trap E182H05, German Gene Trap Consortium
MGI ID:	MGI:3917429
Synonyms:	DstGt
Gene:	Dst  Location: Chr1:33947306-34347742 bp, + strand  Genetic Position: Chr1, 12.91 cM
Alliance:	DstGt(E182H05)Wrst page

Mutant Cell Line:	E182H05
Germline Transmission:	Earliest citation of germline transmission: J:228781
Parent Cell Line:	E14TG2a.4 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Gene trapped (Modified isoform(s)) Mutation:    Insertion of gene trap vector     Vector: rsFROSAbgeo0s   Mutation details: Trapped gene association determined by genome coordinate overlap and strand. The gene trap inserted within the coding region of ABD CH, disrupting the Dst 1 and 2 actin-binding domain-containing isoforms transcribed from upstream promoters and generating a Dystonin-lacZ fusion product. RT-PCR analysis indicates that these isoforms are either absent or barely detectable in homozygotes. In addition, the F1Ex system relies on the sequential use of the Cre and FLP recombinases for the conditional inactivation and reactivation of the gene trap alleles. The first site-specific recombination using FLP recombinase reverses the gene trap cassette from the original mutagenic orientation to a non-mutagenic, inverted orientation. Subsequent recombination using cre recombinase leads to inversion of the transgene back to the mutagenic direct orientation. (J:228781) Sequence Tags:  Sequence tag details (2 tags) Tag ID GenBank ID Method Tag Location (trapped strand)* Select 5SE182H05 FI572887 (MGI Seq Detail) 5'Splinkerette PCR Chr1:34141649-34142166 bp (+) 3SE182H05 FI572886 (MGI Seq Detail) 3'Splinkerette PCR unknown * GRCm39 (strand of gene trap mutagenesis) Selected Tags: download BLAST at NCBI Genome Context:  Genome Browser view of this mutation 190 gene trap insertions have trapped this gene View all gene trap sequence tags in this region

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

8 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Dst Mutation:	556 strains or lines available

Original:	J:141210 Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI), Mouse Gene Trap Data Load from dbGSS. Database Download. 2008;
All:	8 reference(s)