C9orf72^em5Lutzy
Endonuclease-mediated Allele Detail

Summary

• Symbol: C9orf72^em5Lutzy
• Name: C9orf72, member of C9orf72-SMCR8 complex; endonuclease-mediated mutation 5, Cathy Lutz
• MGI ID: MGI:5751186
• Synonyms: C9Orf72 null
• Gene: C9orf72 Location: Chr4:35191285-35226153 bp, - strand Genetic Position: Chr4, 17.13 cM
• Alliance: C9orf72^em5Lutzy page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: 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. (J:101977)

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	4 anatomical structure(s)

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 C9orf72 Mutation: 36 strains or lines available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 4 reference(s)