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Syt1tm3Sud
Targeted Allele Detail
Summary
Symbol: Syt1tm3Sud
Name: synaptotagmin I; targeted mutation 3, Thomas C Sudhof
MGI ID: MGI:2180148
Synonyms: R233Q, Syt1R233Q+
Gene: Syt1  Location: Chr10:108333511-108846843 bp, - strand  Genetic Position: Chr10, 56.52 cM
Alliance: Syt1tm3Sud page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:76452
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsInsertion of a neomycin resistance cassette into intron 1 and an arginine to glutamine point mutation at position 233 of exon 1 (R233Q) was introduced via homologous recombination. Western blot of brain homogenates from homozygous mutant animals verified the presence of protein expression and enzyme assays demonstrated similar phospholipid- and syntaxin-binding ability compared to wild-type. However, calcium affinity was decreased by 2-fold. (J:76452)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Syt1 Mutation:  41 strains or lines available
References
Original:  J:76452 Fernandez-Chacon R, et al., Synaptotagmin I functions as a calcium regulator of release probability. Nature. 2001 Mar 1;410(6824):41-9
All:  5 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