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| Nomenclature |
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Symbol:
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Tg(Umod*C147W)958Lura
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Name:
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transgene insertion 958, Luca Rampoldi
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MGI ID: |
MGI:4819096 |
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Synonyms: |
TgUmodC147W |
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Transgene:
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Tg(Umod*C147W)958Lura
Location:
unknown
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Transgene origin |
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Transgene description |
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Transgene
Type: | |
Transgenic (random, expressed) |
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Mutation: | |
Insertion |
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Mutation details: The transgene minigene contains a 2.9 kb fragment of the promoter the first non-coding exon and intron 1, the remaining coding sequence from exon 2 through 11 with nucleotide substitutions that result in the amino acid substitution of tryptophan for cysteine at position 147 (C147W), and the entire 3'UTR. Line 958 was generated. (J:161532)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Notes |
Phenotypic Similarity to Human Syndrome: Uromodulin-associated kidney diseases (UAKD)
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| References |
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Original: |
J:161532
Bernascone I et al.,
"A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure."
Hum Mol Genet 2010 Aug 1;19(15):2998-3010
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All: |
1 reference(s)
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