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Tg(Umod*C147W)958Lura
Transgene Detail
Nomenclature
Symbol: Tg(Umod*C147W)958Lura
Name: transgene insertion 958, Luca Rampoldi
MGI ID: MGI:4819096
Synonyms: TgUmodC147W
Transgene: Tg(Umod*C147W)958Lura  Location: unknown  
Transgene
origin
Strain of Origin:  FVB
Transgene
description
Transgene Type:    Transgenic (Inserted expressed sequence)
Mutation:    Insertion
 
Tg(Umod*C147W)958Lura expresses 1 gene
 
Mutation detailsThe 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)
Phenotypes
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Disease models
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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
Notes
Phenotypic Similarity to Human Syndrome: Uromodulin-associated kidney diseases (UAKD)

References
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
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/12/2015
MGI 5.21
The Jackson Laboratory