Phenotypes associated with this allele

• Allele Symbol: Rest^tm1.2Bban
• Allele Name: targeted mutation 1.2, Botond Banfi
• Allele ID: MGI:6378686
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Rest^tm1.2Bban/Rest^+	involves: 129S4/SvJaeSor * FVB/N	MGI:6378687

Genotype
MGI:6378687

ht1

• Allelic Composition: Rest^tm1.2Bban/Rest⁺
• Genetic Background: involves: 129S4/SvJaeSor * FVB/N

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

hearing/vestibular/ear

abnormal kinocilium morphology ( J:265659 )

• kinocilia are abnormally short in the utricles at E15 and E16

abnormal outer hair cell stereociliary bundle morphology ( J:265659 )

• most outer hair cells lack stereocilia at P6

• organ of Corti cultures from P1 mice show degeneration of outer hair cell stereocilia

• organ of Corti cultures from P1 mice treated with the HDAC inhibitors FK228, SAHA, or Merck60 show prevention of outer hair cell stereocilia degeneration

• mice injected with the HDAC inhibitor SAHA at P2, P4, and P5 show retention of stereocilia in outer hair cells

• SAHA treatment is more effective at rescuing the outer hair cells at P6 than at P16

cochlear hair cell degeneration ( J:265659 )

• hair cells are present until E16-17 but degenerate throughout the inner ear by P12

• the hearing organ of P6 mice shows increased apoptosis in hair cells

• the caspase inhibitors Z-DEVD-FMK and Z-VAD-FMK delay the death of hair cells in organ of Corti cultures but do not prevent the degeneration of stereocilia

cochlear inner hair cell degeneration ( J:265659 )

abnormal utricle morphology ( J:265659 )

• cilia are abnormally short in the utricles at E15 and E16

increased or absent threshold for auditory brainstem response ( J:265659 )

deafness ( J:265659 )

behavior/neurological

impaired balance ( J:265659 )

• mice exhibit balance defects

cellular

abnormal kinocilium morphology ( J:265659 )

• kinocilia are abnormally short in the utricles at E15 and E16

nervous system

nervous system phenotype ( J:265659 )

N • no pathological alterations are seen in the brain

abnormal kinocilium morphology ( J:265659 )

• kinocilia are abnormally short in the utricles at E15 and E16

abnormal outer hair cell stereociliary bundle morphology ( J:265659 )

• most outer hair cells lack stereocilia at P6

• organ of Corti cultures from P1 mice show degeneration of outer hair cell stereocilia

• organ of Corti cultures from P1 mice treated with the HDAC inhibitors FK228, SAHA, or Merck60 show prevention of outer hair cell stereocilia degeneration

• mice injected with the HDAC inhibitor SAHA at P2, P4, and P5 show retention of stereocilia in outer hair cells

• SAHA treatment is more effective at rescuing the outer hair cells at P6 than at P16

cochlear hair cell degeneration ( J:265659 )

• hair cells are present until E16-17 but degenerate throughout the inner ear by P12

• the hearing organ of P6 mice shows increased apoptosis in hair cells

• the caspase inhibitors Z-DEVD-FMK and Z-VAD-FMK delay the death of hair cells in organ of Corti cultures but do not prevent the degeneration of stereocilia

cochlear inner hair cell degeneration ( J:265659 )