Msh5^em1Jzc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Msh5^em1Jzc
• Name: mutS homolog 5; endonuclease-mediated mutation 1, Zi-Jiang Chen
• MGI ID: MGI:7260342
• Synonyms: Msh4^D486Y
• Gene: Msh5 Location: Chr17:35247581-35265721 bp, - strand Genetic Position: Chr17, 18.57 cM
• Alliance: Msh5^em1Jzc page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to T change a position 1456, resulting in an aspartate to tyrosine substitution at residue 486 (p.D486Y) in exon 16 which is equivalent to the human p.D487Y mutation identified in two sisters with primary ovarian insufficiency. (J:241778)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Msh5 Mutation: 49 strains or lines available

References

• Original: J:241778 Guo T, et al., Mutations in MSH5 in primary ovarian insufficiency. Hum Mol Genet. 2017 Apr 15;26(8):1452-1457
• All: 1 reference(s)