Tg(Myh6-NEBL*G202R)#Jato
Transgene Detail
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Symbol: |
Tg(Myh6-NEBL*G202R)#Jato |
Name: |
transgene insertion, Jeffrey A Towbin |
MGI ID: |
MGI:5907159 |
Transgene: |
Tg(Myh6-NEBL*G202R)#Jato Location: unknown
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Alliance: |
Tg(Myh6-NEBL*G202R)#Jato page
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Strain of Origin: |
Not Specified
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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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Tg(Myh6-NEBL*G202R)#Jato expresses
1 gene
Transgene expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
NEBL (10529) |
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Mutation details: The murine alpha-myosin heavy chain promotor drives the cardiac-specific expression of the full-length 3.1 kb human nebulette cDNA containing the c.604G>A substitution in exon 7 resulting in a glycine to arginine change at codon 202 (G202R). This is one variant identified in patients with dilated cardiomyopathy and endocardial fibroelastosis. The pound symbol (#) is used when line is not specified and/or lines are pooled.
(J:242962)
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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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Original: |
J:242962 Purevjav E, et al., Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. J Am Coll Cardiol. 2010 Oct 26;56(18):1493-502 |
All: |
3 reference(s) |
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