The transgene construct was designed with a 270 nucleotide in-frame deletion in the region encoding the COL2 domain. The transcripts produced from the transgene and the encoded protein were determined to be truncated by RT-PCR and Western blot analyses. RT-PCR analysis also showed that though the levels of transcript produced by the transgene were lower than the levels produced by the endogenous gene, the expression pattern was similar. In addition, binding of the antibody downstream of the deletion indicated that the reading frame remained intact in the truncated peptides. A base insertion was later detected at the 3 prime end of the cDNA causing the shortening of the COL3 domain by six collagenous repeats and the lack of the NC4 domain. (J:71814)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6J x DBA/2J
--
Insertion
--
--
--
3

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

References Literature

Title
PMID
Journal
Year
IF
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