Hpdl^em1Jgg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hpdl^em1Jgg
• Name: 4-hydroxyphenylpyruvate dioxygenase-like; endonuclease-mediated mutation 1, Joseph Gleeson
• MGI ID: MGI:7447439
• Gene: Hpdl Location: Chr4:116677104-116678705 bp, - strand Genetic Position: Chr4, 53.35 cM
• Alliance: Hpdl^em1Jgg page
• IMPC: Hpdl gene page

Mutation origin

• Strain of Origin: C57BL/6
• Project Collection: IMPC

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• CRISPR-targeting of the single coding exon deleted 7 bp (NM_146256.3:c.59_65del). (J:334229)
• Inheritance: Not Specified

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Hpdl Mutation: 14 strains or lines available

References

• Original: J:334229 Ghosh SG, et al., Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Genet Med. 2021 Mar;23(3):524-533
• All: 1 reference(s)