B6-Rpe65 R44X
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Basic Information
Model Name
B6-Rpe65 R44X
Product ID
C001360
Gene Name
Background
C57BL/6JCya
Gene Alias
LCA2; RP20; rd12; 65kDa; Mord1; A930029L06Rik
Classification
Ophthalmic Disease Models,Rare Disease Models
NCBI ID
Phenotype
Chromosome
3
Document
Note: When using this mouse strain in a publication, please cite “B6-Rpe65 R44X mice (Catalog C001360) were purchased from Cyagen.”
Strain Description
This model was constructed by introducing the Rpe65 R44X point mutation into the mouse gene by gene editing techniques, resulting in a C to T base substitution at nucleotide 130 of the gene encoding the Rpe65 protein, leading to a stop codon at amino acid position 44 instead of arginine (p.R44*). It has been reported that the eyes of homozygous mice carrying this mutation will not express the RPE65 protein [3]. This model can be used in studies of retinitis pigmentosa 20 (RP20), Leber's congenital amaurosis type 2 (LCA 2), and the visual cycle.
Application Area
Retinitis pigmentosa 20 (RP20) research
Leber's congenital amaurosis type 2 (LCA2) research
The visual cycle research
Validation Data