About   Help   FAQ
Gna11em1Mman
Endonuclease-mediated Allele Detail
Summary
Symbol: Gna11em1Mman
Name: guanine nucleotide binding protein, alpha 11; endonuclease-mediated mutation 1, Michael Mannstadt
MGI ID: MGI:6376284
Synonyms: GNA11R60C
Gene: Gna11  Location: Chr10:81364558-81380996 bp, - strand  Genetic Position: Chr10, 39.72 cM
Alliance: Gna11em1Mman page
Mutation
origin
Strain of Origin:  C57BL/6NCrl
Mutation
description
Allele Type:    Endonuclease-mediated (Not Applicable)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/Cas9 technology generated a C to T point mutation at position 178 resulting in a cysteine for arginine change at amino acid 60. Nine other silent bp changes were incorporated to avoid guide recognition of the oligonucleotide template and to create a ScaI restriction site. This mutation is seen in patients with autosomal-dominant hypocalcemia type 2. Three independent lines were generated containing this mutation. (J:280180)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
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: 1 strain available      Cell Lines: 0 lines available
Carrying any Gna11 Mutation:  21 strains or lines available
References
Original:  J:280180 Roszko KL, et al., Knockin mouse with mutant Galpha11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors. JCI Insight. 2017 Feb 9;2(3):e91079
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, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory