Allele/Variant

Dnah11b2b598Clo

Species
Mus musculus
Symbol
Dnah11b2b598Clo
Category
allele
Allele of gene
Dnah11
Transgenic Constructs
None
Synonyms
  • Joplin
Description
This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The causitive molecular lesion for the cardiovascular phenotypes is a C to T substitution at coding nucleotide postition 3184 in exon 16 of the cDNA (c.3184C>T, NM_010060). This changes the glutamine residue to a stop codon at position 1062 in the encoded protein (p.Q1062*).
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations