Actn3^tm1Knno
Targeted Allele Detail

Summary

• Symbol: Actn3^tm1Knno
• Name: actinin alpha 3; targeted mutation 1, Kathryn N North
• MGI ID: MGI:3760255
• Synonyms: Actn3^-
• Gene: Actn3 Location: Chr19:4911244-4927937 bp, - strand Genetic Position: Chr19, 4.12 cM
• Alliance: Actn3^tm1Knno page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:125639
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 2 through 7 were replace with a neo cassette. The absence of protein product was confirmed by western blot analysis. (J:125639)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Actn3 Mutation: 48 strains or lines available

References

• Original: J:125639 Macarthur DG, et al., Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nat Genet. 2007 Oct;39(10):1261-5
• All: 16 reference(s)