Phenotypes Associated with This Genotype

Genotype
MGI:6500763

• Allelic Composition: Slc26a4^em1Jgao/Slc26a4^em1Jgao
• Genetic Background: involves: CBA/CaJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

torticollis ( J:291230 )

• seen in some mice

impaired balance ( J:291230 )

• 9 of 31 mice exhibit balance dysfunction including torticollis and circling

• some mice perform worse on the rotarod than wild-type mice, staying on the rod for a shorter time than wild-type mice, while mice with torticollis and circling do not stay on the rotarod

circling ( J:291230 )

• seen in some mice

growth/size/body

decreased body weight ( J:291230 )

• some mice exhibit lower body weight at 2 months of age, however most are normal weight

hearing/vestibular/ear

abnormal cochlear hair cell stereociliary bundle morphology ( J:291230 )

• abnormal structure of sterocilia

• while stereocilia appear normal in mice with an ABR threshold of 30 db, inner hair cell stereocilia fusion and extension is seen in mice with ABR threshold of 70 db, and the remaining outer hair cell stereocilia do not have a normal V-shaped structure and inner hair cell sterocilia are lost or fused and abnormally extended in mice with ABR threshold greater than 90 db

fused inner hair cell stereocilia ( J:291230 )

• inner hair cell sterocilia fusion is seen in mice with ABR thresholds greater than 70 db

cochlear hair cell degeneration ( J:291230 )

• cochlear hair cell degeneration begins at P14, with loss of outer hair cells beginning before the loss of inner hair cells

• loss of hair cells is variable

• while inner and outer hair cells are relatively intact in mice with an ABR threshold of 30 db, a slight loss is seen in mice with an ABR threshold of 70 db, and outer hair cells are substantially or completely lost in mice with ABR threshold greater than 90 db

abnormal stria vascularis morphology ( J:291230 )

• atrophy of the stria vascularis is seen in 1-month old mice

enlarged otoliths ( J:291230 )

• utricle shows enlarged otoconia in 1-month old mice

detached otolithic membrane ( J:291230 )

• mice show dissociation of the otoconial membrane

increased or absent threshold for auditory brainstem response ( J:291230 )

• tone burst auditory brain stem response (ABR) shows an increase in the ABR thresholds from low to high frequencies

• ABR thresholds do not change much from one 1 month to 9 months of age, indicating that hearing loss is not progressive

• the hearing threshold of 22% mice is 25-40 db and of 41% of mice is 40-70%, with only 37% of mice having a hearing threshold over 70 db

impaired hearing ( J:291230 )

• mice exhibit moderate to profound hearing loss

• degree of hair cell degeneration is related to the degree of hearing loss

muscle

torticollis ( J:291230 )

• seen in some mice

nervous system

abnormal cochlear hair cell stereociliary bundle morphology ( J:291230 )

• abnormal structure of sterocilia

• while stereocilia appear normal in mice with an ABR threshold of 30 db, inner hair cell stereocilia fusion and extension is seen in mice with ABR threshold of 70 db, and the remaining outer hair cell stereocilia do not have a normal V-shaped structure and inner hair cell sterocilia are lost or fused and abnormally extended in mice with ABR threshold greater than 90 db

fused inner hair cell stereocilia ( J:291230 )

• inner hair cell sterocilia fusion is seen in mice with ABR thresholds greater than 70 db

cochlear hair cell degeneration ( J:291230 )

• cochlear hair cell degeneration begins at P14, with loss of outer hair cells beginning before the loss of inner hair cells

• loss of hair cells is variable

• while inner and outer hair cells are relatively intact in mice with an ABR threshold of 30 db, a slight loss is seen in mice with an ABR threshold of 70 db, and outer hair cells are substantially or completely lost in mice with ABR threshold greater than 90 db

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Pendred Syndrome		DOID:0060744	OMIM:274600	J:291230