mt-Nd6^m3Dwa
Chemically and radiation induced Allele Detail

Summary

• Symbol: mt-Nd6^m3Dwa
• Name: mitochondrially encoded NADH dehydrogenase 6; mutation 3, Douglas C Wallace
• MGI ID: MGI:5469319
• Synonyms: ND6 G13997A P25L, ND6^P25L
• Gene: mt-Nd6 Location: ChrMT:13552-14070 bp, - strand Genetic Position: ChrMT, Syntenic
• Alliance: mt-Nd6^m3Dwa page

Swelling and loss of retinal ganglion cell axons in mt-Nd6^m3Dwa mice

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:192260
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129S/SvEv-Gpi1^c

Mutation description

• Allele Type: Chemically and radiation induced
• Mutation: Single point mutation
• Mutation details: Treatment with psoralen and UV light was used to generate a clone (LT13) homoplastic for mitochondria with a G-to-A mutation at position 13997 that results in the amino acid substitution of proline with leucine at position 25 (p.P25L). This mutation is equivalent to the human mutation g.14600G>A (p.P25L) associated with optic atrophy and Leigh syndrome. Rhodamine-6G treatment was used to deplete ES cells of endogenous mitochondria. (J:192260)

Disease models

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 mt-Nd6 Mutation: 1 strain or line available

Notes

ES cell line = CC9.3.1

References

• Original: J:192260 Lin CS, et al., Mouse mtDNA mutant model of Leber hereditary optic neuropathy. Proc Natl Acad Sci U S A. 2012 Dec 4;109(49):20065-70
• All: 7 reference(s)