Polr3a^tm1.1Bebr
Targeted Allele Detail

Summary

• Symbol: Polr3a^tm1.1Bebr
• Name: polymerase (RNA) III (DNA directed) polypeptide A; targeted mutation 1.1, Barndard Brais
• MGI ID: MGI:6209826
• Synonyms: Polr3a^G672E, Polr3a^KI
• Gene: Polr3a Location: Chr14:24498764-24537126 bp, - strand Genetic Position: Chr14, 14.4 cM
• Alliance: Polr3a^tm1.1Bebr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:250577
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Single point mutation
• Mutation details: A lox2272 site was inserted in forward orientation into intron 14, approximately 100 bp upstream of the exon 15 splice acceptor. A FRT-flanked neomycin cassette was inserted into intron 15, approximately 150 bp downstream of the splice donor. The neo cassette was followed by a loxP site in forward orientation. The mutant exon 15 containing a G to A change at position 2015, resulting in a glycine to glutamate mutation at amino acid 672, was inserted in reverse orientation 5' to the loxP site. The inverted exon was followed by a FLEX switch consisting of lox2272 and loxP in reverse orientation. Cre-mediated recombination resulted in inversion of the mutant exon 15 so that it is expressed. (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: 2 reference(s)