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Site-directed mutagenesis of codon 179 (exon 5; older nomenclature is S156C) resulted in a serine to cysteine substitution. A floxed neomycin selection cassette inserted into intro 4 was excised via the in vitro expression of cre recombinase. Sequence analysis showed that a normal sized transcript detected by Northern blot and RT-PCR analyses contained the desired missense mutation. Western blot analysis of ECM protein extracts confirmed proper translation of the mutant transcript. (J:78059)
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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References Literature
Title
PMID
Journal
Year
IF
