Col6a5^em1Ics
Endonuclease-mediated Allele Detail

Summary

• Symbol: Col6a5^em1Ics
• Name: collagen, type VI, alpha 5; endonuclease-mediated mutation 1, Mouse Clinical Institute
• MGI ID: MGI:8314377
• Synonyms: Col6a5^E2302, Col6a5^em1-E2302*, Col6a5^em1YahICS
• Gene: Col6a5 Location: Chr9:105733277-105837842 bp, - strand Genetic Position: Chr9, 57.34 cM
• Alliance: Col6a5^em1Ics page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to T change resulting in a glutamic acid to stop codon change at amino acid 2302 (p.E2302*) in exon 38. This corresponds to the human p.Glu2272* variant identified in two families and an independent patient with chronic neuropathic itch. Two silent mutations (A to G and A to C) to generate a new HaeIII restriction site and a third A to G mutation was introduced after the new stop codon. (J:350811)

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 Col6a5 Mutation: 125 strains or lines available

References

• Original: J:350811 Rasheed AAB, et al., The COL6A5-p.Glu2272* mutation induces chronic itch in mice. Mamm Genome. 2024 Jun;35(2):122-134
• All: 1 reference(s)