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A PGK-neo replaced exons 38-40, which encode the 20-residue NC3 interruption of the helical domain and one and six collagenous tripeptides located amino-and carboxyl-terminally, respectively. Sequencing of RT-PCR products confirm that the mutant transcript is in frame. Immunoblots identified a collagen-sensitive protein in mutant tissue slightly smaller than that of wild-type protein. PCR amplification indicated that mutant and wild-type transcripts are present at comparable levels in heterozygotes. (J:92510)
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
