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Allele : Tc(HSA17*)1Mdk transchromosomal, human 17, line 1, Michael Koob; transchromosomal, human 17, line 1, Michael D Koob
Primary Identifier  MGI:6729680 Allele Type  Targeted
Attribute String  Humanized sequence, Inserted expressed sequence Gene  Tc(HSA17*)1Mdk
Transmission  Germline Strain of Origin  C57BL/6NTac
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Intergenic deletion,
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • MAPT 10IVS+16 C>T,
  • MAPT 10IVS+16 C>T
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1 Feature

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Genome

2 Expresses

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6 Mutation Involves

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Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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0 Driven By

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