Specc1l^em1Kumc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Specc1l^em1Kumc
• Name: sperm antigen with calponin homology and coiled-coil domains 1-like; endonuclease-mediated mutation 1, University of Kansas Medical Center
• MGI ID: MGI:6758245
• Synonyms: Specc1l^deltaC510
• Gene: Specc1l Location: Chr10:75047872-75148234 bp, + strand Genetic Position: Chr10, 38.51 cM
• Alliance: Specc1l^em1Kumc page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: ZFN-targeting of exon 4 deleted 154 bp at the exon 4/intron boundary. The deletion causes a frameshift truncation with the loss of the last 510 amino acids. (J:286649)

Expression

In Structures Affected by this Mutation:

1 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 Specc1l Mutation: 51 strains or lines available

References

• Original: J:286649 Hall EG, et al., SPECC1L regulates palate development downstream of IRF6. Hum Mol Genet. 2020 Mar 27;29(5):845-858
• All: 2 reference(s)