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A mutation (C to A) was introduced by site-directed mutagenesis. This resulted in an asparagine to lysine change at amino acid residue 617 (N617K). In addition, a floxed TK-Neo selection cassette was inserted in exon 3 after the region encoding the collagenous domain. The presence of the mutation was confirmed by direct sequencing. Transient transfection with cre recombinase removed the floxed Neo-TK selection cassette. (J:154052)
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
