Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Efstm1Kale
Name:	embryonal Fyn-associated substrate; targeted mutation 1, Konstantina Alexandropoulos
MGI ID:	MGI:3611072
Synonyms:	Sin-
Gene:	Efs  Location: Chr14:55153992-55163583 bp, - strand  Genetic Position: Chr14, 27.99 cM, cytoband C1
Alliance:	Efstm1Kale page

Germline Transmission:	Earliest citation of germline transmission: J:103757
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

4 anatomical structure(s)

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:	27 strains or lines available

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:	5 reference(s)