Gars1^Nmf249

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Species

Mus musculus

Symbol

Gars1^Nmf249

Category

allele

Allele of gene

Gars1

Transgenic Constructs

None

Synonyms

• Gars^P234KY
• Gars^P278KY

Show All 3

Description

Sequence analysis revealed that a CC pair in the open reading frame was changed to AAATA. This nucleotide substitution results in the proline codon 278 (CCT) to be replaced with tyrosine and lysine codons (AAATAT) (p.P234delinsKY) without affecting the rest of the open reading frame. This highly conserved proline residue is near the second catalytic domain. Expression of transcript from this allele does not appear to be affected by this mutation. It is predicted to be a gain-of-function mutation.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations