Ngly1^em10Lutzy
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ngly1^em10Lutzy
• Name: N-glycanase 1; endonuclease-mediated mutation 10, Cathy Lutz
• MGI ID: MGI:5752820
• Synonyms: Ngly1^R539X
• Gene: Ngly1 Location: Chr14:6157837-6220449 bp, - strand Genetic Position: Chr14, 7.08 cM, cytoband A2
• Alliance: Ngly1^em10Lutzy page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Intragenic deletion
• Mutation details: Using CRISPR/cas9 endonuclease mediated genome editing, single guide RNAs are designed to create a C-to-T nucleotide replacement (CGA-to-TGA) encoding an arginine 539-to-termination codon nonsense mutation (R539X). This mutation corresponds to the R542X mutation identified in the patient population as a disease causing variant in Congenital Disorders of Glycosylation Type 1v. (J:101977)

Expression

In Structures Affected by this Mutation:

1 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 Ngly1 Mutation: 39 strains or lines available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 1 reference(s)