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Actn4tm1.1Mrpk
Targeted Allele Detail
Summary
Symbol: Actn4tm1.1Mrpk
Name: actinin alpha 4; targeted mutation 1.1, Martin R Pollak
MGI ID: MGI:3767564
Synonyms: Actn4K228E
Gene: Actn4  Location: Chr7:28592673-28661765 bp, - strand  Genetic Position: Chr7, 16.94 cM
Alliance: Actn4tm1.1Mrpk page
Abnormal renal glomerulus podocyte morphology in Actn4tm1.1Mrpk/Actn4tm1.1Mrpk 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 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. 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  137 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory