Phenotypes associated with this allele

• Allele Symbol: Ceacam16^{tm1(KOMP)Wtsi}
• Allele Name: targeted mutation 1, Wellcome Trust Sanger Institute
• Allele ID: MGI:4363974
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ceacam16^tm1(KOMP)Wtsi/Ceacam16^tm1(KOMP)Wtsi	involves: C57BL/6J * C57BL/6JOlaHsd * C57BL/6N	MGI:5755670

Genotype
MGI:5755670

hm1

• Allelic Composition: Ceacam16^{tm1(KOMP)Wtsi}/Ceacam16^{tm1(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6J * C57BL/6JOlaHsd * C57BL/6N
• Cell Lines: EPD0319_6_B07

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

hearing/vestibular/ear

absent Hensen stripe ( J:215775 )

• at P43, homozygotes lack Hensen's stripe in the basal, high-frequency region (~40 kHz) of the TM, unlike wild-type and heterozygous controls

abnormal tectorial membrane striated-sheet matrix morphology ( J:215775 )

• at P43, homozygotes exhibit large holes in the striated-sheet matrix that are prominent in apical, low-frequency cochlear regions and present to a lesser extent in more basal regions; holes seen in wild-type and heterozygous controls are small and few in number

• % of TM cross-sectional area occupied by holes is significantly higher than that in controls in all four cochlear regions analyzed (~4 kHz, ~8 kHz, ~20 kHz, and ~40 kHz)

• area occupied by holes decreases as the characteristic frequency of the region increases; in contrast, areas occupied by holes in controls are not significantly different in any region analyzed

• although covernet fibrils are present, they are imbedded in a dense amorphous matrix

• the striated-sheet matrix is replaced with a loose arrangement of tangled filaments

• however, collagen fibril organization and distribution appear normal

increased or absent threshold for auditory brainstem response ( J:215775 )

• at P43, homozygotes exhibit modestly elevated ABR thresholds only at 4 kHz (a very low frequency) relative to wild-type controls

• however, ABR thresholds at higher frequencies and for a 100 us transient are not significantly altered

abnormal otoacoustic response ( J:215775 )

• strikingly, 70% of homozygotes exhibit spontaneous otoacoustic emissions (SOAEs) versus less than 3% in wild-type controls; some SOAEs are large and numerous

• when multiple SOAEs are present, their average separation is 2470 Hz, i.e. ~10% of the most common SOAE frequency

• the average SPL for homozygotes is ~17.0 dB whereas the sole SOAE recorded in a wild-type control is 7.6 dB

• the predominance of SOAEs >15 kHz correlates with the loss of Hensen's stripe

• stimulus-frequency otoacoustic emissions (SFOAEs) are unexpectedly increased; at 30 dB the SF producing the largest SFOAE averages ~21.5 kHz (range 14.7-24.6) relative to ~24.1 kHz (range 21.332.5) for wild-type controls

• transiently evoked otoacoustic emissions (TEOAEs) are also increased; at 50 dB, frequencies range between 20 and 25.4 kHz, similar to those that generate the largest SFOAEs

• however, distortion product otoacoustic emissions are, for most frequencies, relatively normal

• nonlinear capacitance (NLC) recordings are also normal, suggesting that all components of the amplifier are functional