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Acvr1tm1Emsh
Targeted Allele Detail
Nomenclature
Symbol: Acvr1tm1Emsh
Name: activin A receptor, type 1; targeted mutation 1, Eileen M Shore
MGI ID: MGI:5471642
Synonyms: Acvr1R206H
Gene: Acvr1  Location: Chr2:58446438-58566828 bp, - strand  Genetic Position: Chr2, 33.05 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:194134
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA point mutation (CGC to CAC) results in the amino acid substitution of histidine for arginine at position 206 (R206H). An FRT-flanked neo cassette was inserted downstream of the modified exon 5. (J:194134)
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: 10 anatomical structures
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:  9 strains or lines available
Notes
Chimeras analyzed in J:194134 contain 70% to 90% mutant cells.
References
Original:  J:194134 Chakkalakal SA, et al., An Acvr1 R206H knock-in mouse has fibrodysplasia ossificans progressiva. J Bone Miner Res. 2012 Aug;27(8):1746-56
All:  3 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
02/16/2021
MGI 6.16
The Jackson Laboratory