All Phenotypes Tg(Atoh1-cre)1Bfri MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Tg(Atoh1-cre)1Bfri
transgene insertion 1, Bernd Fritzsch
MGI:3775845

Summary

19 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gt(ROSA)26Sor^{em1(ptxA)Btar}/? Tg(Atoh1-cre)1Bfri/?	B6.Cg-Gt(ROSA)26Sor^{em1(ptxA)Btar} Tg(Atoh1-cre)1Bfri/Btar	MGI:6163704
cn2	Chd7^tm1.1Dmm/Chd7^tm1.1Dmm Gt(ROSA)26Sor^{tm6(CAG-ZsGreen1)Hze}/Gt(ROSA)26Sor⁺ Tg(Atoh1-cre)1Bfri/0	involves: 129 * C57BL/6 * C57BL/6NCrl * CBA	MGI:7518647
cn3	Abl1^tm2.1Goff/Abl1^tm2.1Goff Abl2^tm1Ajk/Abl2^tm1Ajk Tg(Atoh1-cre)1Bfri/0	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6J * CBA	MGI:4850045
cn4	Upf2^tm1Btp/Upf2^tm1Btp Tg(Atoh1-cre)1Bfri/0	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:6718866
cn5	Actg1^tm1.2Erv/Actg1^tm1.2Erv Tg(Atoh1-cre)1Bfri/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:4882052
cn6	Pkhd1l1^{tm2c(EUCOMM)Hmgu}/Pkhd1l1^{tm2c(EUCOMM)Hmgu} Tg(Atoh1-cre)1Bfri/0	involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * CBA	MGI:6379251
cn7	Hbs1l^{tm1c(KOMP)Wtsi}/Hbs1l^{tm1c(KOMP)Wtsi} Tg(Atoh1-cre)1Bfri/0	involves: 129S4/SvJaeSor * C57BL/6NTac * CBA	MGI:6718859
cn8	Actb^tm1.1Erv/Actb^tm1.1Erv Tg(Atoh1-cre)1Bfri/?	involves: 129S6/SvEvTac * C57BL/6 * CBA * FVB/N	MGI:4882050
cn9	Gt(ROSA)26Sor^{tm7(CAG-mCherry,-EGFP/tetX)Dym}/Gt(ROSA)26Sor⁺ Tg(ACTFLPe)9205Dym/0 Tg(Atoh1-cre)1Bfri/0	involves: 129S6/SvEvTac * C57BL/6 * CBA * SJL	MGI:4412287
cn10	Capzb^{tm1c(EUCOMM)Wtsi}/Capzb^{tm1c(EUCOMM)Wtsi} Gt(ROSA)26Sor^{tm14(CAG-tdTomato)Hze}/Gt(ROSA)26Sor⁺ Tg(Atoh1-cre)1Bfri/0	involves: 129S6/SvEvTac * C57BL/6N * CBA * SJL	MGI:6098730
cn11	Actb^tm1.1Erv/Actb^tm1.1Erv Actg1^tm1.2Erv/Actg1^tm1.2Erv Tg(Atoh1-cre)1Bfri/?	involves: 129/Sv * C57BL/6 * CBA * FVB/N	MGI:4882051
cn12	Ptch1^tm1Bjw/Ptch1^tm1Bjw Tg(Atoh1-cre)1Bfri/0	involves: 129T2/SvEms * C57BL/6 * CBA	MGI:5286070
cn13	Chd7^{tm2c(EUCOMM)Wtsi}/Chd7⁺ Tg(Atoh1-cre)1Bfri/0	involves: C57BL/6 * C57BL/6J * C57BL/6N * CBA	MGI:7518227
cn14	Chd7^{tm2c(EUCOMM)Wtsi}/Chd7^{tm2c(EUCOMM)Wtsi} Tg(Atoh1-cre)1Bfri/0	involves: C57BL/6 * C57BL/6J * C57BL/6N * CBA	MGI:7339183
cn15	Chd7^{tm2c(EUCOMM)Wtsi}/Chd7^{tm2c(EUCOMM)Wtsi} Tg(Atoh1-cre)1Bfri/0 Tg(Nes-Reln)#Cur/0	involves: C57BL/6 * C57BL/6J * C57BL/6N * CBA * FVB	MGI:7494375
cn16	Chd7^{tm2c(EUCOMM)Wtsi}/Chd7^{tm2c(EUCOMM)Wtsi} Tg(Atoh1-cre)1Bfri/0	involves: C57BL/6 * C57BL/6N * CBA	MGI:7493449
cn17	Tubb4a^Jit/Tubb4a^{tm1c(EUCOMM)Hmgu} Tg(Atoh1-cre)1Bfri/0	involves: C57BL/6 * C57BL/6N * CBA * FVB/N	MGI:6888390
cn18	Pelo^tm1Slac/Pelo^tm1Slac Tg(Atoh1-cre)1Bfri/0	involves: C57BL/6J * CBA	MGI:6718864
cn19	Capzb^{tm1c(EUCOMM)Wtsi}/Capzb^{tm1c(EUCOMM)Wtsi} Tg(Atoh1-cre)1Bfri/0	involves: C57BL/6N * CBA * SJL	MGI:6098728

Allelic Composition	Gt(ROSA)26Sor^{em1(ptxA)Btar}/? Tg(Atoh1-cre)1Bfri/?
Genetic Background	B6.Cg-Gt(ROSA)26Sor^{em1(ptxA)Btar} Tg(Atoh1-cre)1Bfri/Btar

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{em1(ptxA)Btar} mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)

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

hearing/vestibular/ear

abnormal cochlear hair cell stereociliary bundle morphology ( J:236519 )

• 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

abnormal inner hair cell stereociliary bundle morphology ( J:236519 )

short inner hair cell stereocilia ( J:236519 )

abnormal vestibular hair cell stereociliary bundle morphology ( J:236519 )

• in the utricle the vestibular hair cells also have stereocilia that are shortened and have a shallower staircase pattern

increased or absent threshold for auditory brainstem response ( J:236519 )

• almost completely deaf

deafness ( J:236519 )

nervous system

abnormal cochlear hair cell stereociliary bundle morphology ( J:236519 )

• 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

abnormal inner hair cell stereociliary bundle morphology ( J:236519 )

short inner hair cell stereocilia ( J:236519 )

abnormal vestibular hair cell stereociliary bundle morphology ( J:236519 )

• in the utricle the vestibular hair cells also have stereocilia that are shortened and have a shallower staircase pattern

Allelic Composition	Chd7^tm1.1Dmm/Chd7^tm1.1Dmm Gt(ROSA)26Sor^{tm6(CAG-ZsGreen1)Hze}/Gt(ROSA)26Sor⁺ Tg(Atoh1-cre)1Bfri/0
Genetic Background	involves: 129 * C57BL/6 * C57BL/6NCrl * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7^tm1.1Dmm mutation (1 available); any Chd7 mutation (138 available)
Gt(ROSA)26Sor^{tm6(CAG-ZsGreen1)Hze} mutation (1 available); any Gt(ROSA)26Sor mutation (993 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:310063 )

N	• hair cells are preserved in the apical, mid, and basal cochlear regions

Allelic Composition	Abl1^tm2.1Goff/Abl1^tm2.1Goff Abl2^tm1Ajk/Abl2^tm1Ajk Tg(Atoh1-cre)1Bfri/0
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6J * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abl1^tm2.1Goff mutation (1 available); any Abl1 mutation (93 available)
Abl2^tm1Ajk mutation (0 available); any Abl2 mutation (80 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)

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

nervous system

nervous system phenotype ( J:166211 )

N	• normal cerebella

Allelic Composition	Upf2^tm1Btp/Upf2^tm1Btp Tg(Atoh1-cre)1Bfri/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Atoh1-cre)1Bfri mutation (1 available)
Upf2^tm1Btp mutation (0 available); any Upf2 mutation (63 available)

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

nervous system

increased neuronal precursor proliferation ( J:306384 )

• reduced fraction of granule cell precursors exiting the cell cycle in the anterior lobes of the cerebellum

abnormal cerebellum external granule cell layer morphology ( J:306384 )

• no clear separation of the inner and outer external granule cell layer

decreased cerebellar granule cell number ( J:306384 )

• at P6 in the inner granule layer

abnormal cerebellum anterior lobe morphology ( J:306384 )

• reduced length with failure of Purkinje cells to form a monolayer

• however, the posterior lobes are normal

cellular

increased neuronal precursor proliferation ( J:306384 )

• reduced fraction of granule cell precursors exiting the cell cycle in the anterior lobes of the cerebellum

Allelic Composition	Actg1^tm1.2Erv/Actg1^tm1.2Erv Tg(Atoh1-cre)1Bfri/?
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Actg1^tm1.2Erv mutation (1 available); any Actg1 mutation (23 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)

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

hearing/vestibular/ear

abnormal cochlear hair cell stereociliary bundle morphology ( J:167543 )

• 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

increased or absent threshold for auditory brainstem response ( J:167543 )

• 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

increased susceptibility to age-related hearing loss ( J:167543 )

• progressive hearing loss with age

nervous system

abnormal cochlear hair cell stereociliary bundle morphology ( J:167543 )

• 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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkhd1l1^{tm2c(EUCOMM)Hmgu} mutation (0 available); any Pkhd1l1 mutation (240 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)

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

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

Allelic Composition	Hbs1l^{tm1c(KOMP)Wtsi}/Hbs1l^{tm1c(KOMP)Wtsi} Tg(Atoh1-cre)1Bfri/0
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6NTac * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hbs1l^{tm1c(KOMP)Wtsi} mutation (0 available); any Hbs1l mutation (51 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)

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

nervous system

nervous system phenotype ( J:306384 )

N	• mice exhibit normal granule cell precursors

Allelic Composition	Actb^tm1.1Erv/Actb^tm1.1Erv Tg(Atoh1-cre)1Bfri/?
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * CBA * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Actb^tm1.1Erv mutation (1 available); any Actb mutation (53 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:167543 )

N	• stereocilia develop normally to 2 days of age • stereocilia are still present at 10 days of age

abnormal cochlear hair cell stereociliary bundle morphology ( J:167543 )

• 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

short cochlear hair cell stereocilia ( J:167543 )

• basal region stereocilia are shortened at 18 weeks of age

increased or absent threshold for auditory brainstem response ( J:167543 )

• 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

increased susceptibility to age-related hearing loss ( J:167543 )

• hearing losses preferentially at higher frequencies

nervous system

abnormal cochlear hair cell stereociliary bundle morphology ( J:167543 )

• 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

short cochlear hair cell stereocilia ( J:167543 )

• basal region stereocilia are shortened at 18 weeks of age

Allelic Composition	Gt(ROSA)26Sor^{tm7(CAG-mCherry,-EGFP/tetX)Dym}/Gt(ROSA)26Sor⁺ Tg(ACTFLPe)9205Dym/0 Tg(Atoh1-cre)1Bfri/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * CBA * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{tm7(CAG-mCherry,-EGFP/tetX)Dym} mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Tg(ACTFLPe)9205Dym mutation (7 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)

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

behavior/neurological

impaired balance ( J:154944 )

impaired coordination ( J:154944 )

abnormal gait ( J:154944 )

• aberrant foot print angles, irregular and reduced stride lengths

short stride length ( J:154944 )

nervous system

abnormal synaptic vesicle recycling ( J:154944 )

• parallel fibers accumulate unreleased synaptic vesicles unlike in wild-type cells

abnormal excitatory postsynaptic currents ( J:154944 )

• 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

hearing/vestibular/ear

abnormal ear physiology ( J:154944 )

• mice exhibit auditory defects

Allelic Composition	Capzb^{tm1c(EUCOMM)Wtsi}/Capzb^{tm1c(EUCOMM)Wtsi} Gt(ROSA)26Sor^{tm14(CAG-tdTomato)Hze}/Gt(ROSA)26Sor⁺ Tg(Atoh1-cre)1Bfri/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6N * CBA * SJL
Cell Lines	EPD0105_5_A09

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Capzb^{tm1c(EUCOMM)Wtsi} mutation (0 available); any Capzb mutation (80 available)
Gt(ROSA)26Sor^{tm14(CAG-tdTomato)Hze} mutation (5 available); any Gt(ROSA)26Sor mutation (993 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)

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

hearing/vestibular/ear

abnormal cochlea morphology ( J:246055 )

• increased actin aggregation in the adherens-junction region and expansion of the apical surface

decreased cochlear hair cell stereocilia number ( J:246055 )

• no distinguishable stereocilia

cochlear hair cell degeneration ( J:246055 )

• reduction in stereocilia diameter and length eventually followed by disappearance

abnormal cuticular plate morphology ( J:246055 )

• ruptures

abnormal vestibular hair cell stereociliary bundle morphology ( J:246055 )

• disrupted hair cell in some bundles

short vestibular hair cell stereocilia ( J:246055 )

• with decreased width

nervous system

decreased cochlear hair cell stereocilia number ( J:246055 )

• no distinguishable stereocilia

cochlear hair cell degeneration ( J:246055 )

• reduction in stereocilia diameter and length eventually followed by disappearance

abnormal vestibular hair cell stereociliary bundle morphology ( J:246055 )

• disrupted hair cell in some bundles

short vestibular hair cell stereocilia ( J:246055 )

• with decreased width

Allelic Composition	Actb^tm1.1Erv/Actb^tm1.1Erv Actg1^tm1.2Erv/Actg1^tm1.2Erv Tg(Atoh1-cre)1Bfri/?
Genetic Background	involves: 129/Sv * C57BL/6 * CBA * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Actb^tm1.1Erv mutation (1 available); any Actb mutation (53 available)
Actg1^tm1.2Erv mutation (1 available); any Actg1 mutation (23 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)

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

hearing/vestibular/ear

abnormal cochlear hair cell stereociliary bundle morphology ( J:167543 )

• hair cells lack stereocilia at 5 days of age

nervous system

abnormal cochlear hair cell stereociliary bundle morphology ( J:167543 )

• hair cells lack stereocilia at 5 days of age

Allelic Composition	Ptch1^tm1Bjw/Ptch1^tm1Bjw Tg(Atoh1-cre)1Bfri/0
Genetic Background	involves: 129T2/SvEms * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Bjw mutation (2 available); any Ptch1 mutation (115 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)

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

mortality/aging

premature death ( J:139573 )

• by 4 weeks, mice start becoming severely ill and must be sacrificed

• all mice die 10 or 11 weeks of age

nervous system

nervous system phenotype ( J:189258 )

N	• neuronal migration to form the laminar architecture and foliation in the cerebellum are normal

abnormal neuronal precursor proliferation ( J:139573 )

• granule neuron precursors exhibit persistent proliferation unlike in wild-type mice

• however, cells are still able to exit the cell cycle

increased medulloblastoma incidence ( J:139573 )

abnormal cerebellum morphology ( J:139573 )

• some regions exhibit nodular structure unlike the discrete layers of cells in wild-type mice

abnormal cerebellum external granule cell layer morphology ( J:139573 )

• thickened at P1 to P8 and at P21

• the external granule cell layer persists at P21 unlike in wild-type mice

enlarged cerebellum ( J:139573 )

• at P21 with cerebellar hyperplasia

increased neuronal precursor cell number ( J:189258 )

• increased granule neuron precursors cells at P5

neoplasm

increased medulloblastoma incidence ( J:139573 )

cellular

abnormal neuronal precursor proliferation ( J:139573 )

• granule neuron precursors exhibit persistent proliferation unlike in wild-type mice

• however, cells are still able to exit the cell cycle

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:139573

Allelic Composition	Chd7^{tm2c(EUCOMM)Wtsi}/Chd7⁺ Tg(Atoh1-cre)1Bfri/0
Genetic Background	involves: C57BL/6 * C57BL/6J * C57BL/6N * CBA
Cell Lines	EPD0019_1_D07

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7^{tm2c(EUCOMM)Wtsi} mutation (0 available); any Chd7 mutation (138 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)

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

hearing/vestibular/ear

cochlear inner hair cell degeneration ( J:314588 )

• rapid degeneration of inner hair cells at P10 and P14

• incidence is reduced compared to homozygous mice (5 of 24 mice)

cochlear outer hair cell degeneration ( J:314588 )

• degeneration of outer hair cells is slower than that of inner hair cells

• incidence is reduced compared to homozygous mice (5 of 24)

increased or absent threshold for auditory brainstem response ( J:314588 )

• only 1 of 7 shows severe-profound hearing loss

nervous system

cochlear inner hair cell degeneration ( J:314588 )

• rapid degeneration of inner hair cells at P10 and P14

• incidence is reduced compared to homozygous mice (5 of 24 mice)

cochlear outer hair cell degeneration ( J:314588 )

• degeneration of outer hair cells is slower than that of inner hair cells

• incidence is reduced compared to homozygous mice (5 of 24)

Allelic Composition	Chd7^{tm2c(EUCOMM)Wtsi}/Chd7^{tm2c(EUCOMM)Wtsi} Tg(Atoh1-cre)1Bfri/0
Genetic Background	involves: C57BL/6 * C57BL/6J * C57BL/6N * CBA
Cell Lines	EPD0019_1_D07

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7^{tm2c(EUCOMM)Wtsi} mutation (0 available); any Chd7 mutation (138 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)

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

nervous system

increased neuron apoptosis ( J:242933 )

• increased granule cell precursor apoptosis in both the cerebellar vermis and hemispheres at P7, but is only statistically significant in the hemispheres

decreased cerebellar granule cell precursor proliferation ( J:242933 )

• in vermis lobules I - VIII at early postnatal stages, but not in the hemispheres

cochlear inner hair cell degeneration ( J:314588 )

• 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

cochlear outer hair cell degeneration ( J:314588 )

• degeneration of outer hair cells is slower than that of inner hair cells

abnormal cerebellar foliation ( J:242933 )

• irregular

• delayed initiation of foliation in the vermis becomes evident at E17.5

abnormal cerebellar hemisphere morphology ( J:242933 )

• hypoplasia in the hemispheres evident by P7

abnormal Purkinje cell morphology ( J:242933 )

• 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

decreased Purkinje cell number ( J:242933 )

• in the cerebella at P21

• decrease is due to reduction in the number of cells in lobules I-VII

abnormal cerebellum vermis lobule morphology ( J:242933 )

• vermis folia IV-V and IX extend abnormally into the hemispheres

cerebellum vermis hypoplasia ( J:242933 )

• becomes evident at E18.5

cerebellum hypoplasia ( J:242933 )

• 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

behavior/neurological

behavior/neurological phenotype ( J:242933 )

N	• no differences in vocalization, social investigation or olfactory discrimination

impaired righting response ( J:242933 )

• delay in acquiring the righting reflex

impaired coordination ( J:242933 )

• males but not females perform worse in a rotarod assay compared to sex-matched control littermates

behavioral developmental delay ( J:242933 )

• delay in acquiring the righting reflex. negative geotaxis, ability to reach out toward an object

cellular

increased cellular sensitivity to oxidative stress ( J:314588 )

• 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

increased neuron apoptosis ( J:242933 )

• increased granule cell precursor apoptosis in both the cerebellar vermis and hemispheres at P7, but is only statistically significant in the hemispheres

decreased cerebellar granule cell precursor proliferation ( J:242933 )

• in vermis lobules I - VIII at early postnatal stages, but not in the hemispheres

hearing/vestibular/ear

cochlear inner hair cell degeneration ( J:314588 )

• 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

cochlear outer hair cell degeneration ( J:314588 )

• degeneration of outer hair cells is slower than that of inner hair cells

increased or absent threshold for auditory brainstem response ( J:314588 )

• most (6 of 7) display severe-profound hearing loss across all frequencies at 4 and 8 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CHARGE syndrome		DOID:0050834	OMIM:214800	J:314588

Allelic Composition	Chd7^{tm2c(EUCOMM)Wtsi}/Chd7^{tm2c(EUCOMM)Wtsi} Tg(Atoh1-cre)1Bfri/0 Tg(Nes-Reln)#Cur/0
Genetic Background	involves: C57BL/6 * C57BL/6J * C57BL/6N * CBA * FVB
Cell Lines	EPD0019_1_D07

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7^{tm2c(EUCOMM)Wtsi} mutation (0 available); any Chd7 mutation (138 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)
Tg(Nes-Reln)#Cur mutation (0 available)

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

nervous system

nervous system phenotype ( J:242933 )

N	• overexpression of Reln fully corrects the decrease in granule cell precursors seen in mutant mice without the Reln transgene at P1

abnormal cerebellar lobule formation ( J:242933 )

• 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

Allelic Composition	Chd7^{tm2c(EUCOMM)Wtsi}/Chd7^{tm2c(EUCOMM)Wtsi} Tg(Atoh1-cre)1Bfri/0
Genetic Background	involves: C57BL/6 * C57BL/6N * CBA
Cell Lines	EPD0019_1_D07

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7^{tm2c(EUCOMM)Wtsi} mutation (0 available); any Chd7 mutation (138 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)

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

nervous system

increased neuron apoptosis ( J:243947 )

• increase in apoptosis in the external granule cell layer at postnatal stages

premature neuronal precursor differentiation ( J:243947 )

• granule neuron progenitors show impaired cell cycle exit

abnormal cerebellum morphology ( J:243947 )

• cerebellar defects are more prominent in the anterior lobe

abnormal cerebellar foliation ( J:243947 )

• severe defects in folia formation at P0 and older, especially in the vermis

abnormal Purkinje cell morphology ( J:243947 )

• abnormal Purkinje cell distribution from P0 onwards, especially at the anterior lobe of the cerebellum

decreased cerebellar granule cell number ( J:243947 )

• in the internal granule cell layer

cerebellum hypoplasia ( J:243947 )

• at P0 and older but not at E15.5, especially in the vermis

cellular

increased neuron apoptosis ( J:243947 )

• increase in apoptosis in the external granule cell layer at postnatal stages

premature neuronal precursor differentiation ( J:243947 )

• granule neuron progenitors show impaired cell cycle exit

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CHARGE syndrome		DOID:0050834	OMIM:214800	J:243947

Allelic Composition	Tubb4a^Jit/Tubb4a^{tm1c(EUCOMM)Hmgu} Tg(Atoh1-cre)1Bfri/0
Genetic Background	involves: C57BL/6 * C57BL/6N * CBA * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Atoh1-cre)1Bfri mutation (1 available)
Tubb4a^Jit mutation (0 available); any Tubb4a mutation (30 available)
Tubb4a^{tm1c(EUCOMM)Hmgu} mutation (0 available); any Tubb4a mutation (30 available)

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

nervous system

abnormal cerebellar granule cell morphology ( J:321692 )

• loss of granule cell neurons

• however, no reduction of myelination levels is seen

Allelic Composition	Pelo^tm1Slac/Pelo^tm1Slac Tg(Atoh1-cre)1Bfri/0
Genetic Background	involves: C57BL/6J * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pelo^tm1Slac mutation (0 available); any Pelo mutation (15 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)

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

nervous system

increased neuronal precursor proliferation ( J:306384 )

• reduced fraction of granule cell precursors exiting the cell cycle in the anterior lobes of the cerebellum

abnormal cerebellum external granule cell layer morphology ( J:306384 )

• no clear separation of the inner and outer external granule cell layer

decreased cerebellar granule cell number ( J:306384 )

• at P6 in the inner granule layer

abnormal cerebellum anterior lobe morphology ( J:306384 )

• reduced length with failure of Purkinje cells to form a monolayer

• however, the posterior lobes are normal

cellular

increased neuronal precursor proliferation ( J:306384 )

• reduced fraction of granule cell precursors exiting the cell cycle in the anterior lobes of the cerebellum

Allelic Composition	Capzb^{tm1c(EUCOMM)Wtsi}/Capzb^{tm1c(EUCOMM)Wtsi} Tg(Atoh1-cre)1Bfri/0
Genetic Background	involves: C57BL/6N * CBA * SJL
Cell Lines	EPD0105_5_A09

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Capzb^{tm1c(EUCOMM)Wtsi} mutation (0 available); any Capzb mutation (80 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)

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

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:246055 )

absent distortion product otoacoustic emissions ( J:246055 )

abnormal vestibular system physiology ( J:246055 )

• strongly reduced vestibular function

absent linear vestibular evoked potential ( J:246055 )

• undetectable in 4 of 5 mice

behavior/neurological

head shaking ( J:246055 )

• progressively worse after weaning

• however, mice do not exhibit circling

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