Pigk^em1Linwu

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Species

Mus musculus

Symbol

Pigk^em1Linwu

Category

allele

Allele of gene

Pigk

Transgenic Constructs

None

Synonyms

• Pigk^I30fs

Description

A single nucleotide (T) insertion into exon 1 was created using an sgRNA (targeting TCTCTCGGCAGCTCTGCCGC) and an ssODN template with CRISPR/Cas9 technology, resulting in a reading frame shift and premature stop codon (c.87_88insT, p.I30Yfs*10). The mutation mimics the same human mutation associated with severe infantile encephalopathy.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations