Gnptab^tm1.2Ddray
Targeted Allele Detail

Summary

• Symbol: Gnptab^tm1.2Ddray
• Name: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; targeted mutation 1.2, Dennis Drayna
• MGI ID: MGI:6196029
• Synonyms: Glu1179Lys, Gnptab^mut
• Gene: Gnptab Location: Chr10:88215130-88283186 bp, + strand Genetic Position: Chr10, 43.86 cM
• Alliance: Gnptab^tm1.2Ddray page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:260041
• Parent Cell Line: BALB/c-I (ES Cell)
• Strain of Origin: BALB/cJ

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: A targeting vector was designed to replace exon 19 with one specifying a change of glutamic acid to lysine at amino acid position 1179 (c.3535G>A (GAA-AAA)) , which is homologous to a human Glu1200Lys mutation correlated with stuttering. The targeting vector also contained an internal ribosome entry site (IRES) to allow initiation of translation of an inserted beta-galactoside gene (beta-gal) for subsequent gene expression studies in tissues, as well as a neomycin resistance cassette (PGK-Neo-pA) for selection of the transfected ES cells. Crossing mice with the targeted allele to a flp-expressing line removed the neomycin resistance cassette, and subsequent crossing into a cre-expressing line removed the IRES- gal component to generate BALB/c animals carrying the mutant exon 19 containing Glu1179Lys. (J:260041)

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 Gnptab Mutation: 80 strains or lines available

References

• Original: J:260041 Barnes TD, et al., A Mutation Associated with Stuttering Alters Mouse Pup Ultrasonic Vocalizations. Curr Biol. 2016 Apr 13
• All: 1 reference(s)