Phenotypes associated with this allele

• Allele Symbol: Pkhd1l1^{tm2c(EUCOMM)Hmgu}
• Allele Name: targeted mutation 2c, Helmholtz Zentrum Muenchen GmbH
• Allele ID: MGI:6369356
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Pkhd1l1^tm2c(EUCOMM)Hmgu/Pkhd1l1^tm2c(EUCOMM)Hmgu Gfi1^tm1(cre)Gan/Gfi1^+	involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6N	MGI:6379249
cn2	Pkhd1l1^tm2c(EUCOMM)Hmgu/Pkhd1l1^tm2c(EUCOMM)Hmgu Tg(Atoh1-cre)1Bfri/0	involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * CBA	MGI:6379251

Genotype
MGI:6379249

cn1

• Allelic Composition: Pkhd1l1^{tm2c(EUCOMM)Hmgu}/Pkhd1l1^{tm2c(EUCOMM)Hmgu}; Gfi1^tm1(cre)Gan/Gfi1⁺
• Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6N

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

mortality/aging

prenatal lethality, complete penetrance ( J:280240 )

• no viable homozygotes are produced

Genotype
MGI:6379251

cn2

• Allelic Composition: Pkhd1l1^{tm2c(EUCOMM)Hmgu}/Pkhd1l1^{tm2c(EUCOMM)Hmgu}; Tg(Atoh1-cre)1Bfri/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * CBA

hearing/vestibular/ear

abnormal outer hair cell stereociliary bundle morphology ( J:280240 )

• some outer hair cell bundles show slightly disarrayed or even missing stereocilia at P120 but this disorganization is not pronounced or systematic

• mice show reduced stereociliary surface coat at the tips of outer hair cell stereocilia

• however, hair cells show normal stereocilia bundle orientation in cochlea with no planar cell polarity defects and no major deficiency of the hair-cell mechanotrasnduction complex is seen

decreased outer hair cell stereocilia number ( J:280240 )

• some outer hair cell bundles show missing stereocilia at P120

abnormal tectorial membrane morphology ( J:280240 )

• the tectorial membrane surface appears not as smooth

increased or absent threshold for auditory brainstem response ( J:280240 )

• mice show elevated auditory brainstem response (ABR) thresholds, with reduced ABR peak 1 and increased latency of ABR peak 1 and width of ABR wave 1

abnormal distortion product otoacoustic emission ( J:280240 )

• mice show elevated thresholds in response to high-frequency tones (22.6 kHz, 32 kHz, and 45 kHz) as early as 3 weeks of age, indicating high-frequency hearing loss

• the high-frequency hearing loss persists and shows increased progression in older mice, resulting in threshold elevation of 16-32kHz at 6 and 12 weeks of age

• by 6 months, mice show elevated thresholds across all frequencies tested

impaired hearing ( J:280240 )

• mice show progressive hearing loss

nervous system

abnormal outer hair cell stereociliary bundle morphology ( J:280240 )

• some outer hair cell bundles show slightly disarrayed or even missing stereocilia at P120 but this disorganization is not pronounced or systematic

• mice show reduced stereociliary surface coat at the tips of outer hair cell stereocilia

• however, hair cells show normal stereocilia bundle orientation in cochlea with no planar cell polarity defects and no major deficiency of the hair-cell mechanotrasnduction complex is seen

decreased outer hair cell stereocilia number ( J:280240 )

• some outer hair cell bundles show missing stereocilia at P120