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Allele : Pou3f4<sdl> POU domain, class 3, transcription factor 4; schwindel

Primary Identifier  MGI:4887839 Allele Type  Chemically induced (ENU)
Attribute String  Null/knockout Gene  Pou3f4
Strain of Origin  C3HeB/FeJ Is Recombinase  false
Is Wild Type  false
molecularNote  The mutation is a T to A transversion at nucleotide 900 (c.900T>A, NM_008901.1). The lesion within the coding region of the POU homeodomain was predicted to cause a premature stop codon at amino acid 300 out of 361 of the encoded peptide (p.Cys300*, NP_032927). Immunohistochemical analysis of mutant inner ears revealed that while mutant protein is present, it is mislocalized in the mesenchymal cells instead of the nuclei of the spiral ligament and spiral limbus. Thus, despite its presence in mutant cells in its truncated form, its cytoplasmic mislocalization most likely reflects lack of functionality.
  • mutations:
  • Single point mutation
  • synonyms:
  • KAL001,
  • KAL001
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele