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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
