Coq8a^tm1.1Ics
Targeted Allele Detail

Summary

• Symbol: Coq8a^tm1.1Ics
• Name: coenzyme Q8A; targeted mutation 1.1, Mouse Clinical Institute
• MGI ID: MGI:6359448
• Synonyms: Adck3^-, Coq8a^-
• Gene: Coq8a Location: Chr1:179992803-180023585 bp, - strand Genetic Position: Chr1, 84.15 cM, cytoband H4
• Alliance: Coq8a^tm1.1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:249129
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A loxP site was inserted upstream of exon 9 and a neomycin resistance gene and a second loxP site were inserted downstream of exon 14. Cre-mediated recombination deleted exons 9-14 and the neomycin gene. (J:249129)

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 Coq8a Mutation: 20 strains or lines available

References

• Original: J:249129 Stefely JA, et al., Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity. Mol Cell. 2016 Aug 18;63(4):608-620
• All: 1 reference(s)