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| Nomenclature |
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Symbol:
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Actn4tm1Plk
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Name:
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actinin alpha 4;
targeted mutation 1, Martin R Pollak
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MGI ID: |
MGI:2664917 |
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Synonyms: |
Actn4- |
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Gene:
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Actn4
Location:
Chr7:28893248-28962340 bp, - strand
Genetic Position: Chr7,
16.94 cM
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Focal and segmental glomerulosclerosis in Actn4tm1Plk/Actn4tm1Plk kidneys over 10 weeks of age
Show the 2 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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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:
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129
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
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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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Actn4 Mutation:
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64 strains or lines available |
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| References |
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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
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All: |
4 reference(s)
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Analysis Tools
