Gch1^em1Ypt
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gch1^em1Ypt
• Name: GTP cyclohydrolase 1; endonuclease-mediated mutation 1, Ya-ping Tang
• MGI ID: MGI:6474002
• Synonyms: Gch1^KI
• Gene: Gch1 Location: Chr14:47391352-47426870 bp, - strand Genetic Position: Chr14, 24.6 cM, cytoband C2-3
• Alliance: Gch1^em1Ypt page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a T to G change at position 323 (c.323T>G) resulting in a leucine to arginine substitution at amino acid 108 (p.L108R) which corresponds to the human p.L117R mutation identified in a patient with Bh4-deficient hyperphenylalaninemia B. A silent mutation (GTC to GTA) was also introduced to prevent the biding of sgRNA to the oligo donor. (J:295169)

Disease models

Expression

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Gch1 Mutation: 17 strains or lines available

References

• Original: J:295169 Jiang X, et al., A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairments. Metabolism. 2019 May;94:96-104
• All: 1 reference(s)