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Targeted Allele Detail
Symbol: Atp2a2tm1.1Raco
Name: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2; targeted mutation 1.1, Richard A Cohen
MGI ID: MGI:5660869
Synonyms: SERCA 2 C674S, SKI
Gene: Atp2a2  Location: Chr5:122453513-122502225 bp, - strand  Genetic Position: Chr5, 62.38 cM, cytoband F
Lack of blood vessels and smaller size of E8.5 Atp2a2tm1.1Raco/Atp2a2tm1.1Raco (S674/S674) embryos

Show the 2 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:216004
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6
Allele Type:    Targeted (Not Specified)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsA mutated exon 14 with a TGT to TCC mutation resulting in a Cys674Ser substitution and an FRT flanked neo cassette in intron 14 were inserted via homologous recombination. Flp mediated recombination removed the neo cassette. This mutation removes half of the key thiol that is a target of ischemia induced S-glutathiolation. The presence of the C674S allele was confirmed by sequencing of both genomic DNA and cDNA from cardiac endothelial cells. (J:216004)
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 1 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 Atp2a2 Mutation:  23 strains or lines available
Original:  J:216004 Thompson MD, et al., Glutathione adducts on sarcoplasmic/endoplasmic reticulum Ca2+ ATPase Cys-674 regulate endothelial cell calcium stores and angiogenic function as well as promote ischemic blood flow recovery. J Biol Chem. 2014 Jul 18;289(29):19907-16
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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MGI 6.14
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