Lig1^tm3Dwm
Targeted Allele Detail

Summary

• Symbol: Lig1^tm3Dwm
• Name: ligase I, DNA, ATP-dependent; targeted mutation 3, David W Melton
• MGI ID: MGI:2183413
• Synonyms: Lig1^46BR
• Gene: Lig1 Location: Chr7:13011239-13045350 bp, + strand Genetic Position: Chr7, 7.82 cM
• Alliance: Lig1^tm3Dwm page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:77902
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph)
• Mutation: Single point mutation
• Mutation details: A C to T transversion in codon 771 (exon 23) resulted in the substitution of Arg with Trp (R771W), a mutation initially identified in a patient with symptoms similar to Bloom's syndrome. Sequence analysis of RT-PCR products confirmed that the point mutation in exon 23 was the only change in the coding region of the endogenous gene. (J:77902)

Expression

In Structures Affected by this Mutation:

3 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 Lig1 Mutation: 48 strains or lines available

Notes

Mice were generated from mutant HM-1 ES cells heterozygous for Lig1^tm2Dwm.

References

• Original: J:77902 Harrison C, et al., Replication failure, genome instability, and increased cancer susceptibility in mice with a point mutation in the DNA ligase I gene. Cancer Res. 2002 Jul 15;62(14):4065-74
• All: 2 reference(s)