Pou3f4 (POU domain, class 3, transcription factor 4) encodes a neural transcription factor that is involved in many aspects of inner ear development including the formation of spiral ganglion neuron fascicles and synapse formation within the cochlea. Mutations in Pou3f4 are associated with X chromosome-linked nonsyndromic mixed deafness (DFNX2). Pou3f4 expression is restricted to the otic mesenchyme cells; limited (or no) expression is observed in the hair cells and auditory spiral ganglion neurons (SGN). Pou3f4 knockin/knockout mice contain a Cre recombinase that replaces the Pou3f4 coding region. Females homozygous for the mutation and males hemizygous for the X-linked mutation are viable and fertile. Pou3f4-/Y males and Pou3f4-/- females exhibit hearing loss. As early as E15.5, peripheral axons from SGN in Pou3f4-/Y embryos fail to fasciculate instead forming loosely packed bundles and increased numbers of laterally projecting processes. At E17.5 SGN (type I and II) have reduced innervation and there is a decrease in the number of ribbon synapses. It is not clear whether the Cre&nbsp;allele that replaces Pou3f4&nbsp;generates functional Cre protein. This strain may be useful for studying hearing development, deafness, and SGN radial bundle development.

Pou3f4 knock-in/knock-out mice contain a Cre recombinase that replaces the Pou3f4 (POU domain, class 3, transcription factor 4) coding region. Females homozygous for the mutation and males hemizygous for the X-linked mutation are deaf due to reduced endocochlear potential; mutants also show a failure of auditory spiral ganglion neuron radial bundle fasciculation and synapse formation in the cochlea.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.