Syce1^em1Rrca
Endonuclease-mediated Allele Detail

Summary

• Symbol: Syce1^em1Rrca
• Name: synaptonemal complex central element protein 1; endonuclease-mediated mutation 1, Rosana Rodriguez-Casuriaga
• MGI ID: MGI:6760662
• Gene: Syce1 Location: Chr7:140357142-140367765 bp, - strand Genetic Position: Chr7, 85.96 cM, cytoband F5
• Alliance: Syce1^em1Rrca page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a C to T change at position 727 (c.727C>T) that corresponds to the human c.721C>T familial mutation first reported in two sisters with primary amenorrhea. While this nonsense mutation is predicted to result in a truncated protein, qRT-PCR shows decreased transcript levels and Western blot analysis indicates absence of protein in homozygotes. (J:309952)

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Syce1 Mutation: 30 strains or lines available

References

• Original: J:309952 Hernandez-Lopez D, et al., Familial primary ovarian insufficiency associated with an SYCE1 point mutation: defective meiosis elucidated in humanized mice. Mol Hum Reprod. 2020 Jul 1;26(7):485-497
• All: 1 reference(s)