Phenotypes associated with this allele

• Allele Symbol: Pou4f3^{tm1.1(HBEGF)Rubel}
• Allele Name: targeted mutation 1.1, Edwin Rubel
• Allele ID: MGI:5902780
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Pou4f3^tm1.1(HBEGF)Rubel/Pou4f3^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:5902980

Genotype
MGI:5902980

ht1

• Allelic Composition: Pou4f3^{tm1.1(HBEGF)Rubel}/Pou4f3⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

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

hearing/vestibular/ear

absent cochlear inner hair cells ( J:240454 )

• loss of virtually all hair cells by 6 days after injection (dpi) in mature (P21-P28) mice and 8 dpi in neonate (P5) mice

absent cochlear outer hair cells ( J:240454 )

• loss of virtually all hair cells by 6 days after injection (dpi) in mature (P21-P28) mice and 8 dpi in neonate (P5) mice

conductive hearing loss ( J:240454 )

• owing to loss of virtually all cochlear hair cells by 6 days after injection (dpi) in mature (P21-P28) mice and 8 dpi in neonate (P5) mice

deafness ( J:240454 )

• after injection with Diphtheria Toxin (DT)

• 3 days after injection (dpi) in P30-35 mice, only 16 kHz signals greater than 60 dB SPL evoked an ABR

• 5 dpi in P30-35 mice, no ABR at any frequency at up to 90 dB SPL

• impairment persists till at least 3 months

mixed hearing loss ( J:240454 )

• in mice injected as neonates, neurons die as a consequence of hair cell loss

sensorineural hearing loss ( J:240454 )

• a significant loss of spiral ganglion neurons (SGNs) in the ventral cochlear nucleus (VCN) from 6 days after injection (dpi) and persisting up to 70 dpi in mice injected at P2 or P5

• at 70 dpi in mice injected at P2, the axons terminating in the inner hair cell region were much less dense and the number of axons crossing the organ of Corti was reduced by 90%

• significant reduction in cross-sectional area in VCN neurons at 21 dpi for neonatal injected mice and at 71 dpi in mature injected mice

nervous system

absent cochlear inner hair cells ( J:240454 )

• loss of virtually all hair cells by 6 days after injection (dpi) in mature (P21-P28) mice and 8 dpi in neonate (P5) mice

absent cochlear outer hair cells ( J:240454 )

• loss of virtually all hair cells by 6 days after injection (dpi) in mature (P21-P28) mice and 8 dpi in neonate (P5) mice

abnormal cochlear ganglion morphology ( J:240454 )

• at 70 dpi in mice injected at P2, the axons terminating in the inner hair cell region were much less dense and the number of axons crossing the organ of Corti was reduced by 90%

cochlear ganglion degeneration ( J:240454 )

• a significant loss of spiral ganglion neurons (SGNs) in the ventral cochlear nucleus (VCN) from 6 days after injection (dpi) and persisting up to 70 dpi in mice injected at P2 or P5

• no significant loss of SGNs in the VCN at 21 or 70 dpi in mice injected at P21

small cochlear ganglion ( J:240454 )

• significant reduction in cross-sectional area in VCN neuron cell bodies at 21 dpi for neonatal injected mice and at 71 dpi in mature injected mice