Actn4tm1Mrpk
Targeted Allele Detail
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Symbol: |
Actn4tm1Mrpk |
Name: |
actinin alpha 4; targeted mutation 1, Martin R Pollak |
MGI ID: |
MGI:2664917 |
Synonyms: |
Actn4-, Actn4K256E |
Gene: |
Actn4 Location: Chr7:28592673-28661765 bp, - strand Genetic Position: Chr7, 16.94 cM
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Alliance: |
Actn4tm1Mrpk page
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Focal and segmental glomerulosclerosis in Actn4tm1Mrpk/Actn4tm1Mrpk kidneys over 10 weeks of age
Show the 2 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:83911
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
129
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Allele Type: |
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Targeted (Null/knockout) |
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. Contrary to expectations the resulting homozygous mice failed to express the mutated gene as was indicated by Northern and Western blots.
(J:83911)
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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: |
133 strains or lines available
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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) |
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