Allele/Variant

Tg(Rho-GUCA1A*Y99C)L53Amd

Species
Mus musculus
Symbol
Tg(Rho-GUCA1A*Y99C)L53Amd
Category
allele
Allele of gene
None
Transgenic Constructs
Synonyms
  • Y99C GCAP1
Description
The mouse promoter drives rod and cone-specific expression of the bovine cDNA containing a mutation that results in an amino acid substitution of cysteine for tyrosine at position 99 (Y99C). This mutation is found in human patients with late-onset retinal dystrophy. Several lines were created (L52, L52H, L53, L36, L39, L128, and L52X). Line L53 exhibit a 3- to 4-fold in expression compared to endogenous levels.
Additional Information
Literature

Transgenic Constructs

This allele contains 1 transgenic construct
Symbol
Expressed Components
  • GUCA1A
Knock-down Targets
None
Regulatory Regions
None
All alleles with this construct

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations