Actn4tm1.1Mrpk
Targeted Allele Detail
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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
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Alliance: |
Actn4tm1.1Mrpk page
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Abnormal renal glomerulus podocyte morphology in Actn4tm1.1Mrpk/Actn4tm1.1Mrpk mice
Show the 1 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:90755
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
129X1/SvJ
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Allele Type: |
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Targeted (Humanized sequence, Inserted expressed sequence) |
Mutation: |
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Insertion
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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)
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View phenotypes and curated references 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
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Carrying any Actn4 Mutation: |
137 strains or lines available
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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) |
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