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Allele : Chchd10<tm1.1Vpf> coiled-coil-helix-coiled-coil-helix domain containing 10; targeted mutation 1.1, Veronique Paquis-Flucklinger

Primary Identifier  MGI:6454349 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Chchd10
Transmission  Germline Strain of Origin  C57BL/6N
Is Recombinase  false Is Wild Type  false
molecularNote  A c.164C>T point mutation changes serine codon 55 (TCA) to leucine codon TTA (p.S55L) in exon 3. This mutation is the equivalent of the p.S59L mutation found in some FTD-ALS (frontotemporal dementia-amyotrophic lateral sclerosis) patients. The self-excising loxP site flanked cre gene neomycin resistance gene cassette that was inserted into intron 3 was removed through cre-mediated recombination in male germinal cells.
  • mutations:
  • Single point mutation
  • synonyms:
  • CHCHD10<S59L>,
  • CHCHD10<S59L>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories