Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Actn3tm1Knno
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:	Actn3tm1Knno page

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+

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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

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)