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Acvr1tm1.1Mak
Targeted Allele Detail
Summary
Symbol: Acvr1tm1.1Mak
Name: activin A receptor, type 1; targeted mutation 1.1, Tak W Mak
MGI ID: MGI:6414911
Synonyms: Acvr1G328V
Gene: Acvr1  Location: Chr2:58336450-58456840 bp, - strand  Genetic Position: Chr2, 33.05 cM
Alliance: Acvr1tm1.1Mak page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:285841
Parent Cell Line:  E14K (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Conditional ready)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA G to T change resulting in a glycine to valine substitution at amino acid 328 was introduced in exon 8. In addition, a loxP-flanked STOP cassette was inserted in intron 7. The STOP cassette was removed via cre-mediated recombination. (J:285841)
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 Acvr1 Mutation:  44 strains or lines available
References
Original:  J:285841 Fortin J, et al., Mutant ACVR1 Arrests Glial Cell Differentiation to Drive Tumorigenesis in Pediatric Gliomas. Cancer Cell. 2020 Mar 16;37(3):308-323.e12
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
11/12/2024
MGI 6.24
The Jackson Laboratory