Actn4^tm1.1Mrpk
Targeted Allele Detail

Summary

• Symbol: Actn4^tm1.1Mrpk
• Name: actinin alpha 4; targeted mutation 1.1, Martin R Pollak
• MGI ID: MGI:3767564
• Synonyms: Actn4^K228E
• Gene: Actn4 Location: Chr7:28592673-28661765 bp, - strand Genetic Position: Chr7, 16.94 cM
• Alliance: Actn4^tm1.1Mrpk page

Abnormal renal glomerulus podocyte morphology in Actn4^tm1.1Mrpk/Actn4^tm1.1Mrpk mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:90755
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: A Lys256Glu mutation, such as is associated with familial focal and segmental glomerulosclerosis (FSGS) was introduced into exon 8. In addition, a loxP flanked neomycin-resistance cassette was inserted 400 base pairs 3' of exon 8. The neomycin resistance cassette was removed by mating mice with Tg(Prm-cre)58Og, resulting in transcript expression that is similar to the expression in wild-type, as indicated by Northern blot. RT-PCR and sequencing of exon 8 confirmed that the transcript contains the point mutation, K228E. (J:83911, J:90755)

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 Actn4 Mutation: 138 strains or lines available

References

• Original: J:90755 Yao J, et al., Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein. PLoS Biol. 2004 Jun;2(6):787-94
• All: 4 reference(s)