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Tgfbr1tm1Karl
Targeted Allele Detail
Summary
Symbol: Tgfbr1tm1Karl
Name: transforming growth factor, beta receptor I; targeted mutation 1, Stefan Karlsson
MGI ID: MGI:2388050
Synonyms: Alk5-, TbetaRI-
Gene: Tgfbr1  Location: Chr4:47353258-47414926 bp, + strand  Genetic Position: Chr4, 26.02 cM
Alliance: Tgfbr1tm1Karl page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:68770
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA single loxP site remained in place of exon 3 after an upstream floxed neo cassette and downstream loxP site were recombined by transient expression of cre recombinase in targeted ES cells. The mutation results in deletion of the transmembrane domain and the GS domain required for protein function. Northern blot analysis using a full-length cDNA probe did not detect transcripts in endothelial cells from homozygous mutant embryos. (J:68770)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 8 assay results
In Structures Affected by this Mutation: 8 anatomical structure(s)
Find Mice (IMSR)
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
Carrying any Tgfbr1 Mutation:  36 strains or lines available
Notes
ES cell line = R1 ((129X1/SvJ x 129S1/Sv)F1-Kitl+) or GS (129S6/SvEvTac).
References
Original:  J:68770 Larsson J, et al., Abnormal angiogenesis but intact hematopoietic potential in TGF-beta type I receptor-deficient mice. EMBO J. 2001 Apr 2;20(7):1663-73
All:  21 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
12/10/2024
MGI 6.24
The Jackson Laboratory