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Allele : C9orf72<em5Lutzy> C9orf72, member of C9orf72-SMCR8 complex; endonuclease-mediated mutation 5, Cathy Lutz

Primary Identifier  MGI:5751186 Allele Type  Endonuclease-mediated
Attribute String  Null/knockout Gene  C9orf72
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  The locus is targeted by two zinc finger nucleases (ZFNs) at the TGTTGC sequence located immediately downstream of the exon 2 ATG (GRCm38:4:35,218,827) resulting in a 79 bp deletion in exon 2 (38 bp upstream of the start codon and 38 bp downstream), which maps to mm10/GRCm38:4:35,218,896-35,218,822. Western blot of brain lysates shows homozygous null mice have complete loss of full-length protein, however, mRNA expression levels from the mutant allele are similar to wild type.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • C9Orf72 null,
  • C9Orf72 null
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

6 Publication categories

Trail: Allele