Allele/Variant

Trfhpx

Species
Mus musculus
Symbol
Trfhpx
Category
allele
Allele of gene
Trf
Transgenic Constructs
None
Synonyms
  • HP
  • hpx
Description
A G-to-A point mutation in the first nucleotide of intron 16 eliminates exon 16 splice donor site C-GT by changing it to C-AT. This results in mis-splicing, including the use of a cryptic splice donor 27 bp upstream, deleting 9 codons. A small amount of mutant protein is detectable.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations