Syce1^em1Amp
Endonuclease-mediated Allele Detail

Summary

• Symbol: Syce1^em1Amp
• Name: synaptonemal complex central element protein 1; endonuclease-mediated mutation 1, Alberto M Pendas
• MGI ID: MGI:6818635
• Synonyms: Syce1^POF
• Gene: Syce1 Location: Chr7:140357142-140367765 bp, - strand Genetic Position: Chr7, 85.96 cM, cytoband F5
• Alliance: Syce1^em1Amp page

Mutation origin

• Strain of Origin: (C57BL/6J x CBA/J)F2

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 613 (c.613C>T) resulting in a glutamine to a premature stop codon at residue 241 (p.Gln241*) which is predicted to generate a truncated product of amino acids 1 to 240. This corresponds to chr7:g.140358157G>A (c.727C>T and p.Q243*) on genome build GRCm39. This is a mutation seen in premature ovarian failure in humans. (J:314193)

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: 32 strains or lines available

References

• Original: J:314193 Sanchez-Saez F, et al., Meiotic chromosome synapsis depends on multivalent SYCE1-SIX6OS1 interactions that are disrupted in cases of human infertility. Sci Adv. 2020 Sep;6(36)
• All: 1 reference(s)