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A targeting vector was designed to replace exon 16 of the gene with a loxP-flanked neomycin resistance (neo) cassette. Cre-mediated recombination removed the floxed neo cassette. RT-PCR analysis confirmed expression of a truncated transcript with in-frame deletion of six Gly-X-Y repeats; expression is comparable to mRNA from normal mice. The mutant collagen chain forms triple-helical collagen VI molecules with the alpha 1 and 2 chains and is secreted. (J:208903)
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
