Pou3f4^sdl
Chemically induced Allele Detail

Summary

• Symbol: Pou3f4^sdl
• Name: POU domain, class 3, transcription factor 4; schwindel
• MGI ID: MGI:4887839
• Synonyms: KAL001
• Gene: Pou3f4 Location: ChrX:109857886-109860813 bp, + strand Genetic Position: ChrX, 48.2 cM
• Alliance: Pou3f4^sdl page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: 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. (J:220419)

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pou3f4 Mutation: 3 strains or lines available

References

• Original: J:220419 Parzefall T, et al., Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice. Hum Mutat. 2013 Aug;34(8):1102-10
• All: 1 reference(s)