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Allele : mt-Nd6<m3Dwa> mitochondrially encoded NADH dehydrogenase 6; mutation 3, Douglas C Wallace

Primary Identifier  MGI:5469319 Allele Type  Chemically and radiation induced
Gene  mt-Nd6 Transmission  Germline
Strain of Origin  129S/SvEv-Gpi1<c> Is Recombinase  false
Is Wild Type  false
description  ES cell line = CC9.3.1
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • ND6 G13997A P25L,
  • ND6<P25L>,
  • ND6<P25L>,
  • ND6 G13997A P25L
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

10 Publication categories

Trail: Allele