Higd1c^em2Chaa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Higd1c^em2Chaa
• Name: HIG1 domain family, member 1C; endonuclease-mediated mutation 2, Andy J Chang
• MGI ID: MGI:7587821
• Synonyms: 1-1
• Gene: Higd1c Location: Chr15:100262466-100281836 bp, + strand Genetic Position: Chr15, 56.28 cM
• Alliance: Higd1c^em2Chaa page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: CRISPR-cas9 mediated recombination using gRNAs targeting exon 3 created a 1 bp deletion resulting in a frameshift mutation. Levels of mRNA are reduced by 40-90% in the carotid body and kidneys from homozygous mice. (J:345095)
• Inheritance: Not Specified

Expression

In Structures Affected by this Mutation:

1 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 Higd1c Mutation: 6 strains or lines available

References

• Original: J:345095 Timon-Gomez A, et al., Tissue-specific mitochondrial HIGD1C promotes oxygen sensitivity in carotid body chemoreceptors. Elife. 2022 Oct 18;11:e78915
• All: 1 reference(s)