Actn4^tm1Mrpk
Targeted Allele Detail

Summary

• Symbol: Actn4^tm1Mrpk
• Name: actinin alpha 4; targeted mutation 1, Martin R Pollak
• MGI ID: MGI:2664917
• Synonyms: Actn4^-, Actn4^K256E
• Gene: Actn4 Location: Chr7:28592673-28661765 bp, - strand Genetic Position: Chr7, 16.94 cM
• Alliance: Actn4^tm1Mrpk page

Focal and segmental glomerulosclerosis in Actn4^tm1Mrpk/Actn4^tm1Mrpk kidneys over 10 weeks of age

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:83911
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Null/knockout)
• 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. Contrary to expectations the resulting homozygous mice failed to express the mutated gene as was indicated by Northern and Western blots. (J:83911)

Disease models

Expression

In Structures Affected by this Mutation:

7 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 Actn4 Mutation: 133 strains or lines available

References

• Original: J:83911 Kos CH, et al., Mice deficient in alpha-actinin-4 have severe glomerular disease. J Clin Invest. 2003 Jun;111(11):1683-90
• All: 7 reference(s)