Isr(HSA17;rs63751011-T)3Mdk
Targeted Allele Detail

Summary

• Symbol: Isr(HSA17;rs63751011-T)3Mdk
• Name: interspecies replacement, human Chr 17, Michael Koob 3
• MGI ID: MGI:6729680
• Synonyms: MAPT 10IVS+16 C>T, Tc(HSA17*)1Mdk
• Gene: Isr(HSA17;rs63751011-T)3Mdk Location: unknown Genetic Position: Chr11, Syntenic
• Alliance: Isr(HSA17;rs63751011-T)3Mdk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:347607
• Parent Cell Line: PRX-B6N (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Intergenic deletion, Nucleotide substitutions
• Isr(HSA17;rs63751011-T)3Mdk involves 6 genes/genome features (Sppl2c, Mapt, Gm53648 ...) View all
• Isr(HSA17;rs63751011-T)3Mdk expresses 2 genes
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  MAPT (4137)

  Mapt	(MGI:97180)

  The human MAPT gene was modified to contain a non-coding C to T (rs63751011) substitution at position 44087784 (GRCh37/hg19) in intron 10.

  human

  SPPL2C (162540)

  Sppl2c

  (MGI:3045264)

• Mutation details: A 157 kb deletion on mouse chromosome 11 stretching from, but not including, Crhr1 to Kansl1 is replaced by a syntenic 190 kb region from human chromosome 17 (HSA17). The mouse Sppl2c (signal peptide peptidase 2C) and Mapt (microtubule-associated protein tau) genes are replaced by human SPPL2C and MAPT (H1 haplotype) genes. The human MAPT gene was modified to contain a non-coding C to T (rs63751011) substitution at position 44087784 (GRCh37/hg19) in intron 10. The mutation is identified in early onset frontotemporal dementia (FTD) patients. A loxN-flanked neomycin resistance cassette that was removed by transient cre expression. (J:101977, J:347607)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Isr(HSA17;rs63751011-T)3Mdk Mutation: 1 strain or line available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 2 reference(s)