Allele/Variant

Ecel1em2Hiki

Species
Mus musculus
Symbol
Ecel1em2Hiki
Category
allele
Allele of gene
Ecel1
Transgenic Constructs
None
Synonyms
  • G607S
Description
CRISPR/Cas9 technology generated a G to A missense mutation at position 1819 in exon 13, resulting in a glycine to serine substitution at amino acid 607. Quantitative real time PCR shows that mRNA level is decreased and Western blot analysis indicates reduced protein expression. Sequencing analyses on the TA cloned RT-PCR products indicate the occurrence of splicing defects, with an aberrant transcript with intron retention containing a nucleotide sequence corresponding to a translation termination codon, likely inducing mRNA degradation.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations