Ddrgk1^em1Brle
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ddrgk1^em1Brle
• Name: DDRGK domain containing 1; endonuclease-mediated mutation 1, Brendan Lee
• MGI ID: MGI:5925352
• Synonyms: Ddrgk1^-, Ddrgk1^2BL
• Gene: Ddrgk1 Location: Chr2:130495955-130506549 bp, - strand Genetic Position: Chr2, 63.24 cM, cytoband F3
• Alliance: Ddrgk1^em1Brle page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 gene editing was used to delete a portion of the 5'UTR and the first exon of the gene (310 bp c.249_61del). RT-PCR and Western blot analysis confirmed absence of mRNA and protein. (J:243374)

Expression

In Structures Affected by this Mutation:

2 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 Ddrgk1 Mutation: 20 strains or lines available

References

• Original: J:243374 Egunsola AT, et al., Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. J Clin Invest. 2017 Apr 03;127(4):1475-1484
• All: 1 reference(s)