Polr3a^Gt(LG04)Osb
Gene trapped Allele Detail

Summary

• Symbol: Polr3a^Gt(LG04)Osb
• Name: polymerase (RNA) III (DNA directed) polypeptide A; gene trap (LG04), Research Institute for Microbial Diseases, Osaka University
• MGI ID: MGI:6214817
• Synonyms: Polr3a^{Gt(LVtrap1)LG04Osb}
• Gene: Polr3a Location: Chr14:24498764-24537126 bp, - strand Genetic Position: Chr14, 14.4 cM
• Alliance: Polr3a^Gt(LG04)Osb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:250577
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: (C57BL/6J x DBA/2J)F1

Mutation description

• Allele Type: Gene trapped (Null/knockout, Reporter)
• Mutation: Insertion of gene trap vector
• Mutation details: A gene-trap cassette containing a CAG promoter and GFP inserted in intron 21. The portion of the intron 21 upstream of the cassette is retained in the mRNA, leading to a frameshift and premature stop codon (p.E968VfsX12) at amino acid 980, resulting in a protein of approximately 100 kDa. (J:250577)

Disease models

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 Polr3a Mutation: 70 strains or lines available

References

• Original: J:250577 Choquet K, et al., Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation. Mol Brain. 2017 Apr 13;10(1):13
• All: 1 reference(s)