About   Help   FAQ
Gas8em1Bky
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Gas8em1Bky
Name: growth arrest specific 8; endonuclease-mediated mutation 1, Bradley Yoder
MGI ID: MGI:5803867
Synonyms: Gas8AV
Gene: Gas8  Location: Chr8:124245573-124263389 bp, + strand  Genetic Position: Chr8, 72.1 cM, cytoband E2
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Endonuclease-mediated (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/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)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
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:  10 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
10/12/2021
MGI 6.17
The Jackson Laboratory