Rcc1l^m1Dgr
Spontaneous Allele Detail

Summary

• Symbol: Rcc1l^m1Dgr
• Name: reculator of chromosome condensation 1 like; mutation 1, Daniel S Greenspan
• MGI ID: MGI:6392239
• Synonyms: locus C
• Gene: Rcc1l Location: Chr5:134176893-134205613 bp, - strand Genetic Position: Chr5, 74.42 cM
• Alliance: Rcc1l^m1Dgr page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Spontaneous (Not Applicable)
• Mutation: Single point mutation
• Mutation details: This spontaneous mutation results in a C-to-T point mutation (chr5:g.134163662C>T (GRCm38)) (NM_033572.2:c.922G>A) that produces a glutamic acid to lysine substitution (p.E307K) in RCC1-like domain 5 (RLD5) and splicing out of a 164-bpdownstream exon, with consequent in-frame deletion of RLD 6. (J:254859)

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 Rcc1l Mutation: 39 strains or lines available

Notes

This mutation arose in a Pcolce^tm1Dgr with mixture of Black Swiss and C57BL/6 backbround. The Black Swiss parental region is not associated with the lethality phenotype. The mutation is not present in a restock of C57BL/6 (Harland laboratory).

References

• Original: J:254859 Huang G, et al., WBSCR16 Is a Guanine Nucleotide Exchange Factor Important for Mitochondrial Fusion. Cell Rep. 2017 Jul 25;20(4):923-934
• All: 1 reference(s)