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Allele : Ush1c<tm1.1Mull> USH1 protein network component harmonin; targeted mutation 1.1, Ulrich Mueller
Primary Identifier  MGI:4436726 Allele Type  Targeted
Attribute String  Hypomorph Gene  Ush1c
Transmission  Germline Strain of Origin  129S/SvEv-Gpi1<c>
Is Recombinase  false Is Wild Type  false
molecularNote  A GLG motif was mutated to AAA in the PDZ2 domain, within exon 8, in addition an FRT flanked neo cassette was inserted in intron 6 by homologous recombination. The neo cassette was removed by flp mediated recombination. This mutation is predicted to disrupt protein interactions with CDH23. Whole mount analysis revealed mislocalization of the mutant protein (widely distributed) in cochlear stereocilia from homozygous mice.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • harmonin-PDZ2<AAA>,
  • harmonin-PDZ2<AAA>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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6 Publication categories

Trail: Allele




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