Htt^tm2Msl
Targeted Allele Detail

Summary

• Symbol: Htt^tm2Msl
• Name: huntingtin; targeted mutation 2, Michael S Levine
• MGI ID: MGI:2388032
• Synonyms: CAG94, HdhQ94
• Gene: Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
• Alliance: Htt^tm2Msl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:76018
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Htt^tm2Msl expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  HTT (3064)

  Htt	(MGI:96067)

  Expresses a human HD sequence obtained from a juvenile HD lymphoblastoid cell line

• Mutation details: A fragment extending from 18 bp upstream of the polyglutamine stretch in exon 1 to 100 bp into intron 1 was replaced with human HD sequence obtained from a juvenile HD lymphoblastoid cell line. Though the initial construct was believed to contain 94 CAG repeats, sequence analysis identified an A to G point mutation in the 42nd CAG repeat, resulting in an arginine encoding triplet. Western blot analysis of heterozygous mice verified the expression of the mutant protein. (J:76018)

Disease models

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 Htt Mutation: 178 strains or lines available

References

• Original: J:76018 Levine MS, et al., Enhanced sensitivity to N-methyl-D-aspartate receptor activation in transgenic and knockin mouse models of Huntington's disease. J Neurosci Res. 1999 Nov 15;58(4):515-32
• All: 5 reference(s)