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Allele : Lrguk<Kaos> leucine-rich repeats and guanylate kinase domain containing; kaos

Primary Identifier  MGI:5645723 Allele Type  Chemically induced (ENU)
Attribute String  Hypomorph, Modified isoform(s) Gene  Lrguk
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false Project Collection  APF ENU Mutagenesis
molecularNote  Sequencing revealed a C to T substitution in exon 14 of the gene. Three splice variants are predicted to be encoded by this gene. The longest transcript is the only isoform affected by the mutation. The C to T mutation is predicted to result in the conversion of an arginine at position 528 of the encoded protein to a premature termination codon (R528Stop) and in turn the truncation of 293 residues from the C-terminal region.
  • mutations:
  • Single point mutation
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories

Trail: Allele