Atp2b1Tg(Thy1-CHMP2B*)1Rene
Transgenic Allele Detail
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Symbol: |
Atp2b1Tg(Thy1-CHMP2B*)1Rene |
Name: |
ATPase, Ca++ transporting, plasma membrane 1; transgene insertion 1, Frederique Rene |
MGI ID: |
MGI:6278934 |
Synonyms: |
CHMP2Bintron5 |
Gene: |
Atp2b1 Location: Chr10:98750268-98862005 bp, + strand Genetic Position: Chr10, 50.97 cM, cytoband C3
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Alliance: |
Atp2b1Tg(Thy1-CHMP2B*)1Rene page
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Transgene Type: |
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Transgenic (Humanized sequence, Inserted expressed sequence) |
Mutation: |
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Insertion
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Atp2b1Tg(Thy1-CHMP2B*)1Rene expresses
1 gene
Transgene expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
CHMP2B (25978) |
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contains a mutation identified in human familial FTD that results in truncation at the carboxy terminus |
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Mutation details: The human CHMP2B cDNA containing a missense mutation in the splice acceptor site of exon 6 that is a mutation identified in human familial FTD, and tagged with two hemagglutinin sequences, is under the control of the mouse Thy1.2 promoter. The transgene integrated within chromosome 10: 98950250-98968278 in the Atp1b1 gene within the large first intron. Atp2b1 mRNA levels are not modified although a trend of a decrease is seen in homozygous mice. One line was established.
(J:237873)
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View phenotypes and curated references for all genotypes (concatenated display).
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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 Atp2b1 Mutation: |
66 strains or lines available
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Original: |
J:237873 Vernay A, et al., A transgenic mouse expressing CHMP2Bintron5 mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia. Hum Mol Genet. 2016 Aug 01;25(15):3341-3360 |
All: |
2 reference(s) |
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