Smc6^tm1Arln
Targeted Allele Detail

Summary

• Symbol: Smc6^tm1Arln
• Name: structural maintenance of chromosomes 6; targeted mutation 1, Alan R Lehmann
• MGI ID: MGI:5695349
• Synonyms: SMC6-S994A neo
• Gene: Smc6 Location: Chr12:11315887-11369786 bp, + strand Genetic Position: Chr12, 5.58 cM, cytoband A2
• Alliance: Smc6^tm1Arln page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:220422
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The targeting construct introduced a T to G mutation that results in the amino acid substitution of alanine for serine at position 994 (S994A) and a floxed neomycin resistance cassette into intron 25. Western blot analysis confirmed reduced protein expression in mouse embryonic fibroblasts. (J:220422)

Expression

In Structures Affected by this Mutation:

1 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 Smc6 Mutation: 53 strains or lines available

References

• Original: J:220422 Ju L, et al., SMC6 is an essential gene in mice, but a hypomorphic mutant in the ATPase domain has a mild phenotype with a range of subtle abnormalities. DNA Repair (Amst). 2013 May 1;12(5):356-66
• All: 1 reference(s)