Tg(DMPK*,DMWD,RSPH6A)24Lutzy
Transgene Detail
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Symbol: |
Tg(DMPK*,DMWD,RSPH6A)24Lutzy |
Name: |
transgene insertion 24, Cathy Lutz |
MGI ID: |
MGI:6357826 |
Synonyms: |
Tg(Hdmpk) |
Transgene: |
Tg(DMPK*,DMWD,RSPH6A)24Lutzy Location: unknown Genetic Position: Chr7, Syntenic
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Alliance: |
Tg(DMPK*,DMWD,RSPH6A)24Lutzy page
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Transgene Type: |
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Transgenic (Humanized sequence, Inserted expressed sequence) |
Mutations: |
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Insertion, Intragenic deletion
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Tg(DMPK*,DMWD,RSPH6A)24Lutzy involves 1 genes/genome features (Sptbn4)
View all
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Tg(DMPK*,DMWD,RSPH6A)24Lutzy expresses
3 genes
Transgene expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
DMPK (1760) |
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human |
DMWD (1762) |
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human |
RSPH6A (81492) |
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Mutation details: The transgene contains a patient-derived bacterial artificial chromosome (BAC) containing the human DMPK (dystrophia myotonica-protein kinase) gene including a CTG repeat expansion in the 3' untranslated region. The BAC also contains the neighboring human DNA regions including both DMWD and RSPH6A sequences as well as the distal region (exons 13-27) of SYMPK covering ~62 kb of human sequence (Chr19:46,272,892-46,334,617; hg19 genome). The breakpoint between the human sequence of the DMPK gene and the mouse genome is about 530 bp after the end of the repeat: the polyA signal is therefore included in the DMPK transgene. The insertion of the transgene on mouse Chromosome 7 (Chr7:27,444,265-27,446,145; mm10 genome) caused a 1.8 kb deletion that removed part of the intron between exon 1 and 2 of the Sptbn4 (spectrin beta, non-erythrocytic 4) gene. The estimated transgene copy number is one. Founder 24 contains a 77 CTG repeat expansion.
(J:101977)
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 1 strain available
Cell Lines: 0 lines available
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Original: |
J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017; |
All: |
1 reference(s) |
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