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Efstm1Kale
Targeted Allele Detail
Nomenclature
Symbol: Efstm1Kale
Name: embryonal Fyn-associated substrate; targeted mutation 1, Konstantina Alexandropoulos
MGI ID: MGI:3611072
Synonyms: Sin-
Gene: Efs  Location: Chr14:54916535-54926126 bp, - strand  Genetic Position: Chr14, 27.99 cM, cytoband C1
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:103757
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA targeting vector was designed to replace the first exon, the first intron and part of the second exon, thus disrupting the structure of the Sin-SH3 domain. Protein was not detected in mutant thymus or brain by immunoblot analysis. (J:103757)
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: 5 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 Efs Mutation:  17 strains or lines available
References
Original:  J:103757 Donlin LT, et al., Deficiency in expression of the signaling protein Sin/Efs leads to T-lymphocyte activation and mucosal inflammation. Mol Cell Biol. 2005 Dec;25(24):11035-46
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/12/2019
MGI 6.13
The Jackson Laboratory