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Allele : Arx<tm4Kki> aristaless related homeobox; targeted mutation 4, Kunio Kitamura

Primary Identifier  MGI:4359177 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Arx
Transmission  Germline Strain of Origin  129S/SvEv-Gpi1<c>
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 2 was replaced with one in which coding nucleotide 330 (C), the third base of alanine codon 110 in the middle of the first poly-alanine stretch, was replaced with a G and had seven GCG alanine codons inserted after it (c.330C>GGCGGCGGCGGCGGCGGCGGCG). The resulting protein mutation (p.(A110_A111delinsAAAAAAAAA)) mimics a muation found in some X-linked mental retardation patients. A neomycin resistance gene cassette was inserted in to intron 1.
  • mutations:
  • Nucleotide repeat expansion,
  • Insertion
  • synonyms:
  • Arx<tm(GCG)Kki>,
  • Arx<330ins(GCG7)>,
  • Arx<330ins(GCG7)>,
  • Arx<tm(GCG)Kki>,
  • Arx<E>,
  • Arx<(GCG)7>,
  • Arx<Expanded>,
  • Arx<E>,
  • Arx<Expanded>,
  • Arx<(GCG)7>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

5 Carried By

0 Driven By

15 Publication categories