Timm8a1^em1Yfhu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Timm8a1^em1Yfhu
• Name: translocase of inner mitochondrial membrane 8A1; endonuclease-mediated mutation 1, Yafang Hu
• MGI ID: MGI:8172653
• Synonyms: Timm8a1^I23fs49
• Gene: Timm8a1 Location: ChrX:133438005-133442419 bp, - strand Genetic Position: ChrX, 56.18 cM
• Alliance: Timm8a1^em1Yfhu page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Null/knockout)
• Mutation: Insertion
• Mutation details: CRISPR/Cas9 technology inserted a single A base after the 69th base in exon 1, causing a frameshift after isoleucine at 23 amino acid residues (p.I23fs49X) and introduced a stop codon at the 147th base. This variant was generated to model the c.82C>T, p.Q28X variation identified in a Chinese deafness-dystonia-optic neuronopathy syndrome family. Genomic sequencing confirmed the insertion. qPCR showed upregulation of mRNA levels at 24 weeks of age but Western blot analysis indicated no expression of protein in cerebellum, cerebrum, liver, or kidney. (J:346289)

Disease models

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 Timm8a1 Mutation: 6 strains or lines available

References

• Original: J:346289 Song P, et al., Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment. J Med Genet. 2021 Sep;58(9):619-627
• All: 1 reference(s)