Specc1l^em3Kumc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Specc1l^em3Kumc
• Name: sperm antigen with calponin homology and coiled-coil domains 1-like; endonuclease-mediated mutation 3, University of Kansas Medical Center
• MGI ID: MGI:7286337
• Synonyms: Specc1l^delta234, Specc1l^deltaCCD2
• Gene: Specc1l Location: Chr10:75047872-75148234 bp, + strand Genetic Position: Chr10, 38.51 cM
• Alliance: Specc1l^em3Kumc page

Mutation origin

• Strain of Origin: (C57BL/6J x FVB/NJ)F1

Mutation description

• Allele Type: Endonuclease-mediated (Altered localization)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/cas9 mediated recombination using a single guide RNA created a 234 bp in-frame deletion in exon 4. Protein is expressed in the palate shelf mesenchyme but mislocalized and concentrated in various regions in the cells. (J:324294)

Disease models

Expression

In Structures Affected by this Mutation:

5 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:324294 Goering JP, et al., In-frame deletion of SPECC1L microtubule association domain results in gain-of-function phenotypes affecting embryonic tissue movement and fusion events. Hum Mol Genet. 2021 Dec 17;31(1):18-31
• All: 1 reference(s)