Gas8^em1Bky
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gas8^em1Bky
• Name: growth arrest specific 8; endonuclease-mediated mutation 1, Bradley Yoder
• MGI ID: MGI:5803867
• Synonyms: Gas8^AV
• Gene: Gas8 Location: Chr8:124245630-124263394 bp, + strand Genetic Position: Chr8, 72.1 cM, cytoband E2
• Alliance: Gas8^em1Bky page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas technology generated a C to T point mutation that results in the amino acid substitution of valine for alanine at position 391 (A391V). This mutation is present in human patients with Primary Ciliary Dyskinesia. (J:234173)

Disease models

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 Gas8 Mutation: 20 strains or lines available

References

• Original: J:234173 Lewis WR, et al., Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease. PLoS Genet. 2016 Jul;12(7):e1006220
• All: 1 reference(s)