DstGt(E182H05)1.1Wrst
Gene trapped Allele Detail
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Symbol: |
DstGt(E182H05)1.1Wrst |
Name: |
dystonin; gene trap E182H05, 1.1, German Gene Trap Consortium |
MGI ID: |
MGI:7423689 |
Synonyms: |
DstGt-inv |
Gene: |
Dst Location: Chr1:33947306-34347742 bp, + strand Genetic Position: Chr1, 12.91 cM
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Alliance: |
DstGt(E182H05)1.1Wrst page
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Germline Transmission: |
Earliest citation of germline transmission:
J:332330
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Parent Cell Line: |
E14TG2a.4 (ES Cell)
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Strain of Origin: |
129P2/OlaHsd
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Allele Type: |
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Gene trapped (Conditional ready, No functional change) |
Mutation: |
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Insertion
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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 reversed 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:332330)
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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
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Carrying any Dst Mutation: |
556 strains or lines available
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Original: |
J:332330 Yoshioka N, et al., Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy. Elife. 2022 Aug 9;11:e78419 |
All: |
1 reference(s) |
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