|  Help  |  About  |  Contact Us

Allele : Col6a3<em1Wklm> collagen, type VI, alpha 3; endonuclease-mediated mutation 1, Juliane Winkelmann

Primary Identifier  MGI:6285481 Allele Type  Endonuclease-mediated
Attribute String  Not Specified Gene  Col6a3
Transmission  Germline Strain of Origin  (C57BL/6 x 129S4/SvJae)F1
Is Recombinase  false Is Wild Type  false
molecularNote  A premature stop codon was inserted into exon 36 generating a C-terminal truncation. CAACTGTCCGCGG was deleted and replaced by CCCACAAAGAGAGAGAGTCA via CRISPR/Cas9 technology, yielding a frame-shift and premature stop codon in exon 36. In the predicted protein product, the 15 amino acid sequence NCPRGARVAVVTYNN is replaced by PQRERVRCPRGCGHL followed by the stop codon, resulting in severe disruption of the C1 domain (out of 180 amino acids, 36 intact, 15 altered, and 129 missing) and complete absence of the C2-C5 domains.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Col6a3<CTT>,
  • Col6a3<CTT>
Quick Links:
 
Quick Links:
 

1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele