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Allele : Gna11<em1Mman> guanine nucleotide binding protein, alpha 11; endonuclease-mediated mutation 1, Michael Mannstadt

Primary Identifier  MGI:6376284 Allele Type  Endonuclease-mediated
Gene  Gna11 Strain of Origin  C57BL/6NCrl
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • GNA11<R60C>,
  • GNA11<R60C>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

3 Publication categories