Allele/Variant

Pskh1b2b1230Clo

Species
Mus musculus
Symbol
Pskh1b2b1230Clo
Category
allele
Allele of gene
Pskh1
Transgenic Constructs
None
Synonyms
  • Cannonball
Description
This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at coding nucleotide 656 in exon 2 of the cDNA (c.656T>C, NM_173432). this changes the leucine residue to proline at position 219 of the encoded protein (p.L219P).
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations