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Tgfbr2tm1.1Hcd
Targeted Allele Detail
Nomenclature
Symbol: Tgfbr2tm1.1Hcd
Name: transforming growth factor, beta receptor II; targeted mutation 1.1, Harry C Dietz
MGI ID: MGI:5543796
Synonyms: Tgfbr2G357W
Gene: Tgfbr2  Location: Chr9:116087695-116175363 bp, - strand  Genetic Position: Chr9, 68.39 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:204960
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsSite-directed mutagenesis was performed to substitute glycine 358 with tryptophan (GGC->TGG; guanine to thymine and cytosine to guanine at nucleotides 1069 and 1071 respectively) in exon 4 of the targeted gene. A loxP-flanked neomycin selection cassette was placed in intron 3. Cre-mediated recombination removed the floxed neo cassette. (J:204960)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 8 anatomical structures
Find Mice (IMSR)
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
Carrying any Tgfbr2 Mutation:  7 strains or lines available
References
Original:  J:204960 Gallo EM, et al., Angiotensin II-dependent TGF-beta signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. J Clin Invest. 2014 Jan 2;124(1):448-60
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
07/29/2020
MGI 6.15
The Jackson Laboratory