Spin4^em2Jbn
Endonuclease-mediated Allele Detail

Summary

• Symbol: Spin4^em2Jbn
• Name: spindlin family, member 4; endonuclease-mediated mutation 2, Jeffrey Baron
• MGI ID: MGI:7621835
• Synonyms: short-deletion
• Gene: Spin4 Location: ChrX:94066116-94070288 bp, - strand Genetic Position: ChrX, 41.83 cM
• Alliance: Spin4^em2Jbn page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 genome editing technology was used to generate a truncating deletion of sequences downstream of the second Tudor domain of the encoded protein. This line has only Tudor domain 3 removed. Histone array analysis demonstrated that the truncated protein has severely diminished histone-binding capacity. (J:347154)

Expression

In Structures Affected by this Mutation:

8 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 Spin4 Mutation: 1 strain or line available

References

• Original: J:347154 Lui JC, et al., Loss-of-function variant in SPIN4 causes an X-linked overgrowth syndrome. JCI Insight. 2023 May 8;8(9)
• All: 1 reference(s)