Sos1^tm1.2Rak
Targeted Allele Detail

Summary

• Symbol: Sos1^tm1.2Rak
• Name: SOS Ras/Rac guanine nucleotide exchange factor 1; targeted mutation 1.2, Raju Kucherlapati
• MGI ID: MGI:5000290
• Synonyms: Sos1^E846K, Sos1E846K
• Gene: Sos1 Location: Chr17:80701181-80787882 bp, - strand Genetic Position: Chr17, 50.67 cM, cytoband C3-D
• Alliance: Sos1^tm1.2Rak page

Cardiac defects in Sos1^tm1.2Rak/Sos1^tm1.2Rak and Sos1^tm1.2Rak/Sos1⁺ mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:171873
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A 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 (E846K, 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)

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

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: 69 strains or lines available

References

• 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)