Dct^em1Jkn
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dct^em1Jkn
• Name: dopachrome tautomerase; endonuclease-mediated mutation 1, Ian J Jackson
• MGI ID: MGI:6831164
• Gene: Dct Location: Chr14:118250202-118289656 bp, - strand Genetic Position: Chr14, 61.6 cM
• Alliance: Dct^em1Jkn page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a T to A change at position 118 (c.118T>A) resulting in cysteine to serine substitution at residue 40 (p.Cys40Ser). This is a variant identified in a patient with oculocutanous albinism. (J:314755)

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 Dct Mutation: 35 strains or lines available

References

• Original: J:314755 Pennamen P, et al., Dopachrome tautomerase variants in patients with oculocutaneous albinism. Genet Med. 2021 Mar;23(3):479-487
• All: 1 reference(s)