Polr1a^{tm1d(EUCOMM)Hmgu}
Targeted Allele Detail

Summary

• Symbol: Polr1a^{tm1d(EUCOMM)Hmgu}
• Name: polymerase (RNA) I polypeptide A; targeted mutation 1d, Helmholtz Zentrum Muenchen GmbH
• MGI ID: MGI:7526217
• Gene: Polr1a Location: Chr6:71886037-71956419 bp, + strand Genetic Position: Chr6, 32.21 cM
• Alliance: Polr1a^{tm1d(EUCOMM)Hmgu} page
• IMPC: Polr1a gene page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:335489
• Parent Cell Line: JM8A3.N1 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd
• Project Collection: EUCOMM

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The L1L2_Bact_P cassette was inserted at position 71896885 of Chromosome 6 upstream of the critical exon(s) (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by a neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of the targeted exon(s) at position 71897931. The lacZ-neo cassette was removed through Flp-mediated recombination and subsequent Cre-mediated recombination removed the floxed exons, resulting in a knockout allele. (J:335489)

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 Polr1a Mutation: 94 strains or lines available

References

• Original: J:335489 Smallwood K, et al., POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. Am J Hum Genet. 2023 May 4;110(5):809-825
• All: 1 reference(s)