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Tgfbr1tm1Mulm
Targeted Allele Detail
Summary
Symbol: Tgfbr1tm1Mulm
Name: transforming growth factor, beta receptor I; targeted mutation 1, Christine L Mummery
MGI ID: MGI:3767608
Synonyms: ALK5KI
Gene: Tgfbr1  Location: Chr4:47353258-47414926 bp, + strand  Genetic Position: Chr4, 26.02 cM
Alliance: Tgfbr1tm1Mulm page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:128498
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted
Mutation:    Single point mutation
 
Mutation detailsThe coding region was replaced with one containing a A to C substitution in exon 4 resulting in the substitution of alanine for aspartic acid at position 266 (D266A). This mutation prevents SMAD2 and SMAD3 activation but does not affect interacts with Acvrl1. RT-PCR analysis on spleen and liver was used to confirm the expression of the modified transcript. (J:128498)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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
References
Original:  J:128498 Carvalho RL, et al., Compensatory signalling induced in the yolk sac vasculature by deletion of TGF receptors in mice. J Cell Sci. 2007 Dec 15;120(Pt 24):4269-77
All:  2 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
11/12/2024
MGI 6.24
The Jackson Laboratory