Septin12^tm3Plk
Targeted Allele Detail

Summary

• Symbol: Septin12^tm3Plk
• Name: septin 12; targeted mutation 3, Pao-Lin Kuo
• MGI ID: MGI:6363499
• Synonyms: SEPT12^D197N
• Gene: Septin12 Location: Chr16:4804722-4815716 bp, - strand Genetic Position: Chr16, 2.49 cM, cytoband A1
• Alliance: Septin12^tm3Plk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:223228
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Single point mutation
• Mutation details: A G>A nucleotide substitution was introduced into BAC clone bMQ-374d12 to change codon 195 from aspartic acid to asparagine (p.D195N, equivalent to p.D197N in the human ortholog). The BAC was then used in the targeting vector to replace the endogenous sequence through homologous recombination. The equivalent mutation in human is associated with male infertility. (J:223228)

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 Septin12 Mutation: 25 strains or lines available

References

• Original: J:223228 Kuo YC, et al., SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octameric complexes with other SEPT proteins. J Cell Sci. 2015 Mar 1;128(5):923-34
• All: 3 reference(s)