Allele/Variant

Rp1m1Jdun

Species
Mus musculus
Symbol
Rp1m1Jdun
Category
allele
Allele of gene
Rp1
Transgenic Constructs
None
Synonyms
None
Description
Sequencing of the cDNA revealed two adjacent missense mutations T402C and G403T, resulting in a leucine-to-proline change in amino acid 66 (L66P) in the first doublecortin (DCX) domain of exon 2. Western blot analysis indicates normal quantity and size of the mutant protein, however, immunohistochemistry shows that the protein partially mislocalizes to the transition zone of the shortened axonemes of photoreceptors.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations