Crx^em1Smgc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Crx^em1Smgc
• Name: cone-rod homeobox; endonuclease-mediated mutation 1, Shiming Chen
• MGI ID: MGI:7576952
• Synonyms: Crx^E80A
• Gene: Crx Location: Chr7:15599872-15613880 bp, - strand Genetic Position: Chr7, 8.6 cM
• Alliance: Crx^em1Smgc page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Glutamic acid codon 80 (GAG) in exon 3 was changed to alanine (GCG) (p.E80A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation, in the homeodomain (HD) of the encoded peptide, is the equivalent of the same human mutation associated with dominant cone-rod dystrophy 2 (CRD2). (J:343281)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Crx Mutation: 27 strains or lines available

References

• Original: J:343281 Zheng Y, et al., Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanisms. Elife. 2023 Nov 14;12
• All: 1 reference(s)