Phenotypes associated with this allele

• Allele Symbol: Nptn^pitch
• Allele Name: pitch
• Allele ID: MGI:5911043
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nptn^pitch/Nptn^pitch	involves: C3H * C57BL/6J	MGI:5911049
ht2	Nptn^pitch/Nptn^Y219X	involves: BALB/c * C3H * C3H/HeH * C57BL/6J	MGI:5911046

Genotype
MGI:5911049

hm1

• Allelic Composition: Nptn^pitch/Nptn^pitch
• Genetic Background: involves: C3H * C57BL/6J

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

hearing/vestibular/ear

decreased cochlear outer hair cell number ( J:228717 )

• decreased in the basal coil at P16 and P27

abnormal inner hair cell synaptic ribbon morphology ( J:228717 )

• significant reduction in the number of matched presynaptic and postsynaptic puncta

abnormal cochlear inner hair cell physiology ( J:228717 )

• the size of the secondarily releasable pool (SRP) of vesicles is largely reduced and SRP release saturation is more pronounced

increased or absent threshold for auditory brainstem response ( J:228717 )

• greatly elevated thresholds (greater than or equal to 90 dB SPL) at all frequencies tested (8, 12, 20, and 26 kHz) at 8 weeks of age

• thresholds are already elevated at P16 (greater than or equal to 70 dB SPL) and P27

impaired hearing ( J:228717 )

• reduced or absent click box response at 3 weeks of age

behavior/neurological

impaired righting response ( J:228717 )

impaired swimming ( J:228717 )

• abnormal locomotion in swim testing

trunk curl ( J:228717 )

head tilt ( J:228717 )

• late onset

nervous system

decreased cochlear outer hair cell number ( J:228717 )

• decreased in the basal coil at P16 and P27

abnormal inner hair cell synaptic ribbon morphology ( J:228717 )

• significant reduction in the number of matched presynaptic and postsynaptic puncta

abnormal cochlear inner hair cell physiology ( J:228717 )

• the size of the secondarily releasable pool (SRP) of vesicles is largely reduced and SRP release saturation is more pronounced

Genotype
MGI:5911046

ht2

• Allelic Composition: Nptn^pitch/Nptn^Y219X
• Genetic Background: involves: BALB/c * C3H * C3H/HeH * C57BL/6J

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:228717 )

• greatly elevated thresholds (greater than or equal to 90 dB SPL) at all frequencies tested (8, 12, 20, and 26 kHz) at 8 weeks of age