2310061I04Rik^m1Ifd
Spontaneous Allele Detail

Summary

• Symbol: 2310061I04Rik^m1Ifd
• Name: RIKEN cDNA 2310061I04 gene; mutation 1, Ian Dunn
• MGI ID: MGI:7855590
• Synonyms: Rik^null
• Gene: 2310061I04Rik Location: Chr17:36203569-36208270 bp, - strand Genetic Position: Chr17, 18.75 cM
• Alliance: 2310061I04Rik^m1Ifd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:360757
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: A 59 bp deletion was found in the first intron. This allele was identified in one ES cell clone (ES124) carrying Traf7^tm1.1Ifd but not in the parent cell line IN2. RNA-seq analysis detected an 8-fold reduction in expression in brains from homozygous mice. Breeding for several generations to C57BL/6 mice allowed for separation of the two alleles. (J:360757)
• Inheritance: Not Specified

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 2310061I04Rik Mutation: 23 strains or lines available

Notes

IN2 ES cells = C57BL/6N

References

• Original: J:360757 Tsitsikov EN, et al., Spontaneous mutation in 2310061I04Rik results in reduced expression of mitochondrial genes and impaired brain myelination. PLoS One. 2024;19(12):e0290487
• All: 1 reference(s)