Ngly1^em10Lutzy

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Species

Mus musculus

Symbol

Ngly1^em10Lutzy

Category

allele

Allele of gene

Ngly1

Transgenic Constructs

None

Synonyms

• Ngly1^R539X

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations