Gnaq^tm1.1Dmar
Targeted Allele Detail

Summary

• Symbol: Gnaq^tm1.1Dmar
• Name: guanine nucleotide binding protein, alpha q polypeptide; targeted mutation 1.1, Douglas Marchuk
• MGI ID: MGI:7524701
• Synonyms: GnaqRQ^fl
• Gene: Gnaq Location: Chr19:16110195-16364827 bp, + strand Genetic Position: Chr19, 11.01 cM
• Alliance: Gnaq^tm1.1Dmar page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:339551
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: The targeting construct consisting of a loxP site, exons 4-7 with a polyA site, FRT-flanked neomycin resistance cassette, second loxP site and exons 4-7 containing an arginine to glutamine substitution at residue 183 (p.R183Q) and a polyA site replaced exon 4. The neomycin selection cassette was removed via flp-mediated recombination. (J:339551)

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 Gnaq Mutation: 24 strains or lines available

References

• Original: J:339551 Wetzel-Strong SE, et al., Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis. Genetics. 2023 Aug 9;224(4)
• All: 1 reference(s)