Phenotypes Associated with This Genotype

Genotype
MGI:6455517

• Allelic Composition: Elmod3^em1Jili/Elmod3^em1Jili
• Genetic Background: involves: C57BL/6

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

growth/size/body

decreased body weight ( J:293683 )

hearing/vestibular/ear

abnormal cochlear hair cell stereociliary bundle morphology ( J:293683 )

• by 5 months of age, mice show a looser connection of stereocilia of outer hair cells hair bundle and increased loss of stereocilia in outer hair cells

abnormal inner hair cell stereociliary bundle morphology ( J:293683 )

• formation and maturation of stereocilia in outer hair cells and inner hair cells are delayed in newborns at P1

fused inner hair cell stereocilia ( J:293683 )

short inner hair cell stereocilia ( J:293683 )

• stereocilia of inner hair cells are shorter at 2 months of age and by 5 months of age, all inner hair cells show degeneration of stereocilia with few inner hair cells completely lacking bundles

abnormal outer hair cell stereociliary bundle morphology ( J:293683 )

• formation and maturation of stereocilia in outer hair cells and inner hair cells are delayed in newborns at P1

cochlear inner hair cell degeneration ( J:293683 )

increased or absent threshold for auditory brainstem response ( J:293683 )

• mice exhibit increased hearing thresholds across all frequencies, with auditory brainstem response thresholds shifting from 2 months of age and lasting for the rest of time

• however, vestibular function is normal

abnormal distortion product otoacoustic emission ( J:293683 )

• 2-month-old, but not 1-month-old, mice show increased 2f1-f2 distortion products of the otoacoustic emissions (DPOAE) thresholds, with an even greater difference at 5 months of age

impaired hearing ( J:293683 )

• moderate progressive healing loss across all frequencies starting at 2 months of age that progresses with age

nervous system

abnormal cochlear hair cell stereociliary bundle morphology ( J:293683 )

• by 5 months of age, mice show a looser connection of stereocilia of outer hair cells hair bundle and increased loss of stereocilia in outer hair cells

abnormal inner hair cell stereociliary bundle morphology ( J:293683 )

• formation and maturation of stereocilia in outer hair cells and inner hair cells are delayed in newborns at P1

fused inner hair cell stereocilia ( J:293683 )

short inner hair cell stereocilia ( J:293683 )

• stereocilia of inner hair cells are shorter at 2 months of age and by 5 months of age, all inner hair cells show degeneration of stereocilia with few inner hair cells completely lacking bundles

abnormal outer hair cell stereociliary bundle morphology ( J:293683 )

• formation and maturation of stereocilia in outer hair cells and inner hair cells are delayed in newborns at P1

cochlear inner hair cell degeneration ( J:293683 )

cellular

abnormal actin cytoskeleton morphology ( J:293683 )

• mice show a reduction of F-actin cytoskeleton formation in the cochlea

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 88		DOID:0110533	OMIM:615429	J:293683