**4. Cellular localization of USH proteins**

302 Hearing Loss

Hearing defects after deletion

hearing impairment, retinal

defects in hair cell stereocilia (Yagi et al., 2007)

\*

2011)

(Caberlotto et al.,

(Liu et al., 2007)

(Yagi et al., 2005; Michalski et al., 2007)

(Skradski et al., 2001; Johnson et al., 2005)

(McMillan and White, 2004; McGee

(Yang et al., 2010)

(Lane, 1963; Holme et al., 2002; Mburu et al., 2003; Yang et al.,

(Geller et al., 2009)

et al., 2006)

2010)

**Model name Mutations Phenotypes References** 

deafness

of exon 2

degeneration

impairment

impairment

audiogenic seizure susceptibility, hearing

audiogenic seizure susceptibility, hearing

audiogenic seizure susceptibility, hearing

ERG responses

degeneration

degeneration

deafness

MYO7A: NP\_032689, CDH23: NP\_075859, PCDH15: NP\_075604, SANS: NP\_789817

Circling, head tossing,

impairment, mildly abnormal

hearing impairment, retinal

hearing impairment, no retinal

*Ush1gjs-2J* p.L81GfsX103 Circling, head tossing,

with FRT sites

exon 5 with a neomycinr cassette

exons 2-4 with a neomycinr cassette

replacement of exons 2-4 with a EYFP-neomycinr

a G deletion at 6864 bp (NM\_054053) causing a p.V2250X

exon 82 with a HAneomycinr cassette

of exon 1 with a neomycinr cassette

causing a p.H433fsX58 mutation

deletion of

promoter and exon

cassette

mutation

*Gpr98*/del7TM replacement of

*Whrn* knockout partial replacement

whirler a 592-bp deletion

*Ush3a knockout* Disruption and

1

Table 1. USH mutant mouse models

\*: our unpublished data.

*Ush1gF1* Exon 2 flanked

*Ush2a* knockout replacement of

*Gpr98* knockout replacement of

**USH2**  *Ush2a* 

*Gpr98* 

*Gpr98*-EYFP knockin

Frings & BUB/BnJ

*Whrn* 

**USH3**  *Ush3a*  Defects in USH proteins result in Usher syndrome, nonsyndromic deafness, or retinitis pigmentosa, indicating that these proteins are essential in the inner ear and the retina. Therefore, extensive efforts have been put to investigate the cellular location of these proteins in these two tissues. The cellular localization of USH proteins in other tissues is relatively unclear, although some USH proteins are known to be present in the kidney, colon, brain, lung, olfactory neuron, ovary, oviduct, testes and intestine (el-Amraoui et al., 1996; Hasson et al., 1997; Wolfrum et al., 1998; Kobayashi et al., 1999; Scanlan et al., 1999; Bhattacharya et al., 2002; Pearsall et al., 2002).

Fig. 4. Schematic diagrams of a rod photoreceptor and a hair cell
