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Targeted Allele Detail
Symbol: Sos1tm1.2Rak
Name: SOS Ras/Rac guanine nucleotide exchange factor 1; targeted mutation 1.2, Raju Kucherlapati
MGI ID: MGI:5000290
Synonyms: Sos1E846K, Sos1E846K
Gene: Sos1  Location: Chr17:80393752-80480453 bp, - strand  Genetic Position: Chr17, 50.67 cM, cytoband C3-D
Cardiac defects in Sos1tm1.2Rak/Sos1tm1.2Rak and Sos1tm1.2Rak/Sos1+ mice

Show the 5 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:171873
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsA wloxP site was inserted upstream of exon 16. An inverted segment that contained an mloxP flanked, modified exon 16 with an upstream wloxP site and an FRT-flanked neo cassette was inserted downstream of exon 16. The modified exon 16 contains an C to T transition that results in an glutamic acid to lysine at position 846 (E486K, equivalent to a mutation found in Noonan syndrome (NS) patients). Flp-mediated recombination removed the neo cassette. Cre-mediated recombination rearranged the modified exon 16 into correct orientation and removed the endogenous exon 16. (J:171873)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 15 anatomical structures
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 Sos1 Mutation:  13 strains or lines available
Original:  J:171873 Chen PC, et al., Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome-associated Sos1 mutation. J Clin Invest. 2010 Dec 1;120(12):4353-65
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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last database update
MGI 6.14
The Jackson Laboratory