Ercc5^tm4Shm
Targeted Allele Detail

Summary

• Symbol: Ercc5^tm4Shm
• Name: excision repair cross-complementing rodent repair deficiency, complementation group 5; targeted mutation 4, Tadahiro Shiomi
• MGI ID: MGI:3043590
• Synonyms: XpgD811A
• Gene: Ercc5 Location: Chr1:44186904-44220420 bp, + strand Genetic Position: Chr1, 23.55 cM, cytoband B
• Alliance: Ercc5^tm4Shm page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:89911
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph)
• Mutation: Insertion
• Mutation details: Aspartic acid (811) was converted to alanine (D811A) and a loxP flanked PGK-neo cassette added via homologous recombination. This corresponds to a known human mutation and should abolish 3' excision activity. Northern blot analysis confirmed the presence of mRNA of normal size and amount. (J:89911)

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 Ercc5 Mutation: 55 strains or lines available

References

• Original: J:89911 Shiomi N, et al., Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method. Mol Cell Biol. 2004 May;24(9):3712-9
• All: 2 reference(s)