Tg(NEFL*E397K)#Milg
Transgene Detail

Summary

• Symbol: Tg(NEFL*E397K)#Milg
• Name: transgene insertion, Michael L Garcia
• MGI ID: MGI:5141088
• Synonyms: hNF-L^E396K, hNF-L^E397K
• Transgene: Tg(NEFL*E397K)#Milg Location: unknown
• Alliance: Tg(NEFL*E397K)#Milg page

Transgene origin

• Strain of Origin: Not Specified

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(NEFL*E397K)#Milg expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  NEFL (4747)

  Nefl	(MGI:97313)

• Mutation details: This transgene constitutively expresses human neurofilament light (about 9.7 kb genomic fragment including the 1.7 kb endogenous 5' promoter sequence) with a G-to-A nucleotide substitution at nucleotide 3332 resulting in a glutamic acid to lysine mutation at position 397. Four lines were made, 661, 727, 728, and 730. The pound symbol (#) is used when no line is specified and/or lines are pooled. (J:173771)

Disease models

Expression

In Structures Affected by this Mutation:

4 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

Notes

From The Materials and Methods Section of J:261580: "In the original description of this mutation (Zchner et al., 2004), and in previous publications (Butinar et al., 2008, Dale et al., 2012, Shen et al., 2011, Villalon et al., 2015), this mutation was referred to as E397K. However, mouse (GenBank: AAH16436.1) and human NF-L (GenBank: CAA29097.1) protein sequence show that the mutated amino acid is E396 not E397. The mutated amino acid falls within the most highly conserved sequence, KLLEGEE. The penult glutamic acid is the mutated animo acid, which corresponds to position 396. This discrepancy in positioning has not been explained explicitly, but the field has shifted to refer to this mutation as E396K rather than E397K (Berciano et al., 2015, Elbracht et al., 2014, Pisciotta et al., 2015)."

References

• Original: J:173771 Shen H, et al., Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E. Hum Mol Genet. 2011 Jul 1;20(13):2535-48
• All: 4 reference(s)