Hprt1^tm1(MAPT)Dph
Targeted Allele Detail

Summary

• Symbol: Hprt1^tm1(MAPT)Dph
• Name: hypoxanthine phosphoribosyltransferase 1; targeted mutation 1, Diane P Hanger
• MGI ID: MGI:6192354
• Synonyms: Tau35
• Gene: Hprt1 Location: ChrX:52077014-52110536 bp, + strand Genetic Position: ChrX, 29.31 cM, cytoband A6
• Alliance: Hprt1^tm1(MAPT)Dph page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:263643
• Parent Cell Line: E14TG2a (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence, No functional change)
• Mutation: Insertion
• Hprt1^tm1(MAPT)Dph expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  MAPT (4137)

  Mapt	(MGI:97180)

  disease-associated truncated human cDNA under its own promoter upstream, in head-to-head orientation, of Hprt gene

• Mutation details: A targeting construct comprising the following elements was inserted into the targeted locus: the human MAPT promoter, the cDNA for the truncated human Tau35 fragment (coding for the C-terminal half of the wild-type MAPT peptide, amino-acids 187-441) and sequence for an HA tag. The construct also contains genomic sequence containing the promoter and first three exons of the targeted gene, sequence that is missing in the ES cell line. After recombination, this results in the knocked-in human C-terminally HA-tagged gene inserted upstream of the now intact targeted locus in the opposite transcriptional direction. The expression from the allele is around 7.5% of the level of the endogenous orthologous gene. The truncated Tau peptide is associated with PSP (progressive supranuclear palsy) patients. (J:263643)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Hprt1 Mutation: 1279 strains or lines available

References

• Original: J:263643 Bondulich MK, et al., Tauopathy induced by low level expression of a human brain-derived tau fragment in mice is rescued by phenylbutyrate. Brain. 2016 Aug;139(Pt 8):2290-306
• All: 2 reference(s)