Gna11^em1Mman

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Species

Mus musculus

Symbol

Gna11^em1Mman

Category

allele

Allele of gene

Gna11

Transgenic Constructs

None

Synonyms

• GNA11^R60C

Description

CRISPR/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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations