Pou4f3^tm1Wagq
Targeted Allele Detail

Summary

• Symbol: Pou4f3^tm1Wagq
• Name: POU domain, class 4, transcription factor 3; targeted mutation 1, Guoqiang Wan
• MGI ID: MGI:8220018
• Synonyms: Pou4f3Delta
• Gene: Pou4f3 Location: Chr18:42527662-42529158 bp, + strand Genetic Position: Chr18, 22.58 cM, cytoband B3-E1
• Alliance: Pou4f3^tm1Wagq page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:296699
• Parent Cell Line: W4 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence, Null/knockout)
• Mutations: Intragenic deletion, Single point mutation
• Mutation details: An 8 bp deletion and C-T reversion were introduced in exon 2 and a floxed neo cassette was inserted downstream of exon 2 via homologous recombination. This results in a frameshift and loss of protein function. This is homologous to a mutation found in human patients with DFNA15 deafness. (J:296699)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Pou4f3 Mutation: 26 strains or lines available

References

• Original: J:296699 Zhu GJ, et al., Aldh inhibitor restores auditory function in a mouse model of human deafness. PLoS Genet. 2020 Sep;16(9):e1009040
• All: 2 reference(s)