Polr3a^tm1Iwil
Targeted Allele Detail

Summary

• Symbol: Polr3a^tm1Iwil
• Name: polymerase (RNA) III (DNA directed) polypeptide A; targeted mutation 1, Ian M Willis
• MGI ID: MGI:8187813
• Synonyms: Polr3a^cKI
• Gene: Polr3a Location: Chr14:24498764-24537126 bp, - strand Genetic Position: Chr14, 14.4 cM
• Alliance: Polr3a^tm1Iwil page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:311745
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: A loxP-flanked Polr3a cDNA encoding wild-type exons 15 to 31 and a downstream heterologous polyadenylation signal, followed by intronic sequences and mutant exon 15 encoding the leukodystrophy mutations W671R and G672E were inserted downstream of exon 14. (J:311745)

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

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:311745 Merheb E, et al., Defective myelination in an RNA polymerase III mutant leukodystrophic mouse. Proc Natl Acad Sci U S A. 2021 Oct 5;118(40):e2024378118
• All: 2 reference(s)