Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sorem1(ptxA)Btar mutation
(0 available);
any
Gt(ROSA)26Sor mutation
(942 available)
Tg(Atoh1-cre)1Bfri mutation
(1 available)
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hearing/vestibular/ear
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• similar to Gpsm2 null homozygotes, the inner hair cells show supernumerary rows of nearly identical stereocilia with a much shortened first row and lacking the normal staircase pattern of heights
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• in the utricle the vestibular hair cells also have stereocilia that are shortened and have a shallower staircase pattern
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nervous system
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• similar to Gpsm2 null homozygotes, the inner hair cells show supernumerary rows of nearly identical stereocilia with a much shortened first row and lacking the normal staircase pattern of heights
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• in the utricle the vestibular hair cells also have stereocilia that are shortened and have a shallower staircase pattern
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hearing/vestibular/ear
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N |
• hair cells are preserved in the apical, mid, and basal cochlear regions
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abl1tm2.1Goff mutation
(1 available);
any
Abl1 mutation
(92 available)
Abl2tm1Ajk mutation
(0 available);
any
Abl2 mutation
(79 available)
Tg(Atoh1-cre)1Bfri mutation
(1 available)
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Atoh1-cre)1Bfri mutation
(1 available)
Upf2tm1Btp mutation
(0 available);
any
Upf2 mutation
(62 available)
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nervous system
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• reduced fraction of granule cell precursors exiting the cell cycle in the anterior lobes of the cerebellum
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• no clear separation of the inner and outer external granule cell layer
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• at P6 in the inner granule layer
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• reduced length with failure of Purkinje cells to form a monolayer
• however, the posterior lobes are normal
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cellular
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• reduced fraction of granule cell precursors exiting the cell cycle in the anterior lobes of the cerebellum
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Actg1tm1.2Erv mutation
(1 available);
any
Actg1 mutation
(23 available)
Tg(Atoh1-cre)1Bfri mutation
(1 available)
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hearing/vestibular/ear
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• uniform loss of stereocilia from apical to basal areas of the cochlea at 18 and 24 weeks of age
• loss of stereocilia with the remaining cilia of normal length
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• indistinguishable from controls between 4 and 20 kHz at 6 weeks of age
• threshold elevated relative to controls at 32 kHz in 6 week old mice
• significantly eleveated thresholds at all frequencies tested by 18 weeks of age
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• progressive hearing loss with age
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nervous system
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• uniform loss of stereocilia from apical to basal areas of the cochlea at 18 and 24 weeks of age
• loss of stereocilia with the remaining cilia of normal length
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkhd1l1tm2c(EUCOMM)Hmgu mutation
(0 available);
any
Pkhd1l1 mutation
(239 available)
Tg(Atoh1-cre)1Bfri mutation
(1 available)
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hearing/vestibular/ear
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• 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
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• some outer hair cell bundles show missing stereocilia at P120
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• the tectorial membrane surface appears not as smooth
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• 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
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• 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
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• mice show progressive hearing loss
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nervous system
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• 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
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• some outer hair cell bundles show missing stereocilia at P120
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbs1ltm1c(KOMP)Wtsi mutation
(0 available);
any
Hbs1l mutation
(49 available)
Tg(Atoh1-cre)1Bfri mutation
(1 available)
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nervous system
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N |
• mice exhibit normal granule cell precursors
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Actbtm1.1Erv mutation
(1 available);
any
Actb mutation
(51 available)
Tg(Atoh1-cre)1Bfri mutation
(1 available)
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hearing/vestibular/ear
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N |
• stereocilia develop normally to 2 days of age
• stereocilia are still present at 10 days of age
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• stereocilia loss at 18 weeks of age is modest with apical and middle regions of the cochlea more or less normal
• middle region sterocilia become abnormal by 24 weeks of age
• more stereocilia are retained but they become shorter
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• basal region stereocilia are shortened at 18 weeks of age
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• in 6 week old mice, ABR is normal between 4 and 16 kHz, shows a slightly elevated threshold at 22 kHz and a markedly elevated threshold at 32 kHz
• at 18 weeks, a moderate elevation in ABR threshold is seen at 11 and 16 kHz with a more severe elevation in threshold at 22 and 32 kHZ
• further elevation in ABR thresholds at all frequencies at 24 weeks with elevated thresholds at lower frequencies as well
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• hearing losses preferentially at higher frequencies
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nervous system
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• stereocilia loss at 18 weeks of age is modest with apical and middle regions of the cochlea more or less normal
• middle region sterocilia become abnormal by 24 weeks of age
• more stereocilia are retained but they become shorter
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• basal region stereocilia are shortened at 18 weeks of age
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm7(CAG-mCherry,-EGFP/tetX)Dym mutation
(0 available);
any
Gt(ROSA)26Sor mutation
(942 available)
Tg(ACTFLPe)9205Dym mutation
(7 available)
Tg(Atoh1-cre)1Bfri mutation
(1 available)
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behavior/neurological
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• aberrant foot print angles, irregular and reduced stride lengths
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nervous system
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• parallel fibers accumulate unreleased synaptic vesicles unlike in wild-type cells
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• stimulation of parallel fibers fails to stimulate an excitatory postsynaptic current (EPSC) unlike in similarly treated wild-type mice
• however, extremely high stimulus intensities evoke an EPSC and stimulated parallel fibers propagate action potentials normally
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hearing/vestibular/ear
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• mice exhibit auditory defects
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Capzbtm1c(EUCOMM)Wtsi mutation
(0 available);
any
Capzb mutation
(80 available)
Gt(ROSA)26Sortm14(CAG-tdTomato)Hze mutation
(5 available);
any
Gt(ROSA)26Sor mutation
(942 available)
Tg(Atoh1-cre)1Bfri mutation
(1 available)
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hearing/vestibular/ear
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• increased actin aggregation in the adherens-junction region and expansion of the apical surface
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• no distinguishable stereocilia
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• reduction in stereocilia diameter and length eventually followed by disappearance
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• disrupted hair cell in some bundles
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nervous system
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• no distinguishable stereocilia
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• reduction in stereocilia diameter and length eventually followed by disappearance
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• disrupted hair cell in some bundles
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hearing/vestibular/ear
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• hair cells lack stereocilia at 5 days of age
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nervous system
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• hair cells lack stereocilia at 5 days of age
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Bjw mutation
(2 available);
any
Ptch1 mutation
(115 available)
Tg(Atoh1-cre)1Bfri mutation
(1 available)
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mortality/aging
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• by 4 weeks, mice start becoming severely ill and must be sacrificed
• all mice die 10 or 11 weeks of age
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nervous system
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N |
• neuronal migration to form the laminar architecture and foliation in the cerebellum are normal
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• granule neuron precursors exhibit persistent proliferation unlike in wild-type mice
• however, cells are still able to exit the cell cycle
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• some regions exhibit nodular structure unlike the discrete layers of cells in wild-type mice
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• thickened at P1 to P8 and at P21
• the external granule cell layer persists at P21 unlike in wild-type mice
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• at P21 with cerebellar hyperplasia
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• increased granule neuron precursors cells at P5
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neoplasm
cellular
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• however, cells are still able to exit the cell cycle
• granule neuron precursors exhibit persistent proliferation unlike in wild-type mice
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7tm2c(EUCOMM)Wtsi mutation
(0 available);
any
Chd7 mutation
(136 available)
Tg(Atoh1-cre)1Bfri mutation
(1 available)
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nervous system
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• increased granule cell precursor apoptosis in both the cerebellar vermis and hemispheres at P7, but is only statistically significant in the hemispheres
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• in vermis lobules I - VIII at early postnatal stages, but not in the hemispheres
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• rapid degeneration of inner hair cells at P10 and P14 in 6 of 8 and 15 of 16 mice, respectively
• however, inner hair cell development and morphology are similar to controls at P7
• by P21 most nuclei are missing, pyknotic, or fragmented
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• degeneration of outer hair cells is slower than that of inner hair cells
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• irregular
• delayed initiation of foliation in the vermis becomes evident at E17.5
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• hypoplasia in the hemispheres evident by P7
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• at P7 and P21 cells in the cerebellar vermis are organized in monolayers with small regions of slightly disorganized cells
• at P7, large patches of Purkinje cells are present in the cerebellar hemispheres
• distribution is irregular at E16.5 and mislocalized cells are evident in the cerebellar vermis and hemispheres by E18.5
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• in the cerebella at P21
• decrease is due to reduction in the number of cells in lobules I-VII
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• vermis folia IV-V and IX extend abnormally into the hemispheres
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• becomes evident at E18.5
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• at P21, with hypoplasia in lobules I - VIII, most strikingly in the central lobules
• becomes evident in the vermis at E18.5 and in the hemispheres by P7
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behavior/neurological
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N |
• no differences in vocalization, social investigation or olfactory discrimination
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• delay in acquiring the righting reflex
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• males but not females perform worse in a rotarod assay compared to sex-matched control littermates
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• delay in acquiring the righting reflex. negative geotaxis, ability to reach out toward an object
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cellular
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• when explants of P6 cochlea are exposed to gentamicin for 5h more than half of the hair cells are lost, similar treatment of control cultures does not result in hair cell loss
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• increased granule cell precursor apoptosis in both the cerebellar vermis and hemispheres at P7, but is only statistically significant in the hemispheres
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• in vermis lobules I - VIII at early postnatal stages, but not in the hemispheres
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hearing/vestibular/ear
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• rapid degeneration of inner hair cells at P10 and P14 in 6 of 8 and 15 of 16 mice, respectively
• however, inner hair cell development and morphology are similar to controls at P7
• by P21 most nuclei are missing, pyknotic, or fragmented
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• degeneration of outer hair cells is slower than that of inner hair cells
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• most (6 of 7) display severe-profound hearing loss across all frequencies at 4 and 8 weeks of age
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7tm2c(EUCOMM)Wtsi mutation
(0 available);
any
Chd7 mutation
(136 available)
Tg(Atoh1-cre)1Bfri mutation
(1 available)
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hearing/vestibular/ear
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• rapid degeneration of inner hair cells at P10 and P14
• incidence is reduced compared to homozygous mice (5 of 24 mice)
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• degeneration of outer hair cells is slower than that of inner hair cells
• incidence is reduced compared to homozygous mice (5 of 24)
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• only 1 of 7 shows severe-profound hearing loss
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nervous system
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• rapid degeneration of inner hair cells at P10 and P14
• incidence is reduced compared to homozygous mice (5 of 24 mice)
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• degeneration of outer hair cells is slower than that of inner hair cells
• incidence is reduced compared to homozygous mice (5 of 24)
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7tm2c(EUCOMM)Wtsi mutation
(0 available);
any
Chd7 mutation
(136 available)
Tg(Atoh1-cre)1Bfri mutation
(1 available)
Tg(Nes-Reln)#Cur mutation
(0 available)
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nervous system
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N |
• overexpression of Reln fully corrects the decrease in granule cell precursors seen in mutant mice without the Reln transgene at P1
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• overexpression of Reln rescues the decrease in lobule size for lobules VI-VII in female but not male mice
• no difference in Reln expression levels are seen between males and females
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7tm2c(EUCOMM)Wtsi mutation
(0 available);
any
Chd7 mutation
(136 available)
Tg(Atoh1-cre)1Bfri mutation
(1 available)
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nervous system
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• increase in apoptosis in the external granule cell layer at postnatal stages
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• granule neuron progenitors show impaired cell cycle exit
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• cerebellar defects are more prominent in the anterior lobe
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• severe defects in folia formation at P0 and older, especially in the vermis
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• abnormal Purkinje cell distribution from P0 onwards, especially at the anterior lobe of the cerebellum
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• in the internal granule cell layer
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• at P0 and older but not at E15.5, especially in the vermis
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cellular
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• increase in apoptosis in the external granule cell layer at postnatal stages
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• granule neuron progenitors show impaired cell cycle exit
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Atoh1-cre)1Bfri mutation
(1 available)
Tubb4aJit mutation
(0 available);
any
Tubb4a mutation
(30 available)
Tubb4atm1c(EUCOMM)Hmgu mutation
(0 available);
any
Tubb4a mutation
(30 available)
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nervous system
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• loss of granule cell neurons
• however, no reduction of myelination levels is seen
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pelotm1Slac mutation
(0 available);
any
Pelo mutation
(14 available)
Tg(Atoh1-cre)1Bfri mutation
(1 available)
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nervous system
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• reduced fraction of granule cell precursors exiting the cell cycle in the anterior lobes of the cerebellum
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• no clear separation of the inner and outer external granule cell layer
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• at P6 in the inner granule layer
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• reduced length with failure of Purkinje cells to form a monolayer
• however, the posterior lobes are normal
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cellular
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• reduced fraction of granule cell precursors exiting the cell cycle in the anterior lobes of the cerebellum
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Capzbtm1c(EUCOMM)Wtsi mutation
(0 available);
any
Capzb mutation
(80 available)
Tg(Atoh1-cre)1Bfri mutation
(1 available)
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hearing/vestibular/ear
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• strongly reduced vestibular function
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• undetectable in 4 of 5 mice
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behavior/neurological
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• progressively worse after weaning
• however, mice do not exhibit circling
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Analysis Tools