Allele/Variant

Pcdh15m5Btlr

Species
Mus musculus
Symbol
Pcdh15m5Btlr
Category
allele
Allele of gene
Pcdh15
Transgenic Constructs
None
Synonyms
  • tortilla
Description
ENU-induced G to T transversion at base pair 74,379,417 (v38) on chromosome 10, or base pair 1,280,076 in the GenBank genomic region NC_000076 within the donor splice site of intron 15 (ENSMUST00000195531.5). The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 80-nucleotide exon 15 (out of 35 total exons), resulting in an in-frame deletion of amino acids 640-666 of the protein.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations