Phenotypes Associated with This Genotype

Genotype
MGI:3039365

• Allelic Composition: Emx2^Pdo/Emx2⁺
• Genetic Background: involves: BALB/c * C3H/HeN

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

behavior/neurological

absent pinna reflex ( J:89093 )

• lack of Preyer reflex, indicating a severe hearing defect

cardiovascular system

cardiovascular system phenotype ( J:89093 )

N • EEG recordings, gross histology and scanning EM analysis did not reveal any cardiac defects

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:82809 , J:89093 )

• defects in the middle ear bones results in rendering the ossicular chain incomplete (J:89093)

absent incus lenticular process ( J:89093 )

• the incus lacks the lenticular process

abnormal incus long process morphology ( J:89093 )

• the incus lacks the long process

abnormal malleus morphology ( J:89093 )

• the malleus shows a malformed articulatory surface

abnormal stapes head morphology ( J:89093 )

• the stapes head shows a bobble shape instead of the flat surface seen in controls

increased cochlear inner hair cell number ( J:82809 , J:89093 )

• the inner hair cells are disorganized with an increased number of cells noted (J:89093)

increased cochlear outer hair cell number ( J:82809 , J:89093 )

• four rows of outer hair cells are present instead of three; irregular arrangement is also noted; greater numbers of outer hair cells are present (J:89093)

decreased cochlear nerve compound action potential ( J:89093 )

• an increase in compound action potential threshold was seen

• normal endocochlear potential was also noted, suggesting that stria vascularis function was normal

conductive hearing loss ( J:82809 )

deafness ( J:89093 )

sensorineural hearing loss ( J:82809 )

syndromic hearing loss ( J:82809 )

skeleton

abnormal middle ear ossicle morphology ( J:82809 , J:89093 )

• defects in the middle ear bones results in rendering the ossicular chain incomplete (J:89093)

absent incus lenticular process ( J:89093 )

• the incus lacks the lenticular process

abnormal incus long process morphology ( J:89093 )

• the incus lacks the long process

abnormal malleus morphology ( J:89093 )

• the malleus shows a malformed articulatory surface

abnormal stapes head morphology ( J:89093 )

• the stapes head shows a bobble shape instead of the flat surface seen in controls

abnormal incudomalleolar joint morphology ( J:89093 )

• defect in the articulatory surfaces between the malleus and the incus was noted

abnormal incudostapedial joint morphology ( J:89093 )

• defect in the articulation between the incus and stapes; no connection between the incus and stapes

nervous system

increased cochlear inner hair cell number ( J:82809 , J:89093 )

• the inner hair cells are disorganized with an increased number of cells noted (J:89093)

increased cochlear outer hair cell number ( J:82809 , J:89093 )

• four rows of outer hair cells are present instead of three; irregular arrangement is also noted; greater numbers of outer hair cells are present (J:89093)

decreased cochlear nerve compound action potential ( J:89093 )

• an increase in compound action potential threshold was seen

• normal endocochlear potential was also noted, suggesting that stria vascularis function was normal

craniofacial

abnormal middle ear ossicle morphology ( J:82809 , J:89093 )

• defects in the middle ear bones results in rendering the ossicular chain incomplete (J:89093)

absent incus lenticular process ( J:89093 )

• the incus lacks the lenticular process

abnormal incus long process morphology ( J:89093 )

• the incus lacks the long process

abnormal malleus morphology ( J:89093 )

• the malleus shows a malformed articulatory surface

abnormal stapes head morphology ( J:89093 )

• the stapes head shows a bobble shape instead of the flat surface seen in controls