Allele/Variant

Yipf6M1Btlr

Species
Mus musculus
Symbol
Yipf6M1Btlr
Category
allele
Allele of gene
Yipf6
Transgenic Constructs
None
Synonyms
  • Klein-Zschocher
  • Klz
Description
The mutation has been identified as a T to A transversion at nucleotide position 3002 of the genomic DNA sequence (GenBank accession NC_000086.6, NCBI Build 37.1). It lies in the splice acceptor site of the third intron. The affected thymine resides five nucleotides from the next exon, the fourth of the gene's seven exons. cDNA sequence analysis revealed that the mutation results in skipping of exon 4, a frameshift, and and premature termination of translation after amino acid 88 of the normally 236 amino acid protein.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations