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Targeted Allele Detail
Symbol: Actn4tm1Plk
Name: actinin alpha 4; targeted mutation 1, Martin R Pollak
MGI ID: MGI:2664917
Synonyms: Actn4-
Gene: Actn4  Location: Chr7:28893248-28962340 bp, - strand  Genetic Position: Chr7, 16.94 cM
Focal and segmental glomerulosclerosis in Actn4tm1Plk/Actn4tm1Plk kidneys over 10 weeks of age

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

Germline Transmission:  Earliest citation of germline transmission: J:83911
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsA 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)
View phenotypes for all genotypes (concatenated display).
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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:  113 strains or lines available
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:  6 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.03
The Jackson Laboratory