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Allele : Prkar1a<tm1.1Geno> protein kinase, cAMP dependent regulatory, type I, alpha; targeted mutation 1.1, Genoway
Primary Identifier  MGI:6682077 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Prkar1a
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  A CGG to TGA change resulting in an arginine to stop codon change at amino acid 368 (p.R368*) was introduced in exon 12 and a floxed neomycin cassette was inserted upstream of exon 12. The selection cassette was removed via cre-mediated recombination. This nonsense mutation has been identified in patients with type 1 acrodysostosis.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories





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