Phenotypes associated with this allele

• Allele Symbol: Chd7^tm1.1Dmm
• Allele Name: targeted mutation 1.1, Donna M Martin
• Allele ID: MGI:4835266
• Summary: 15 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Chd7^Gt(S20-7E1)Sor/Chd7^tm1.1Dmm	involves: 129 * C57BL/6 * Swiss Webster	MGI:4835274
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	Chd7^Gt(S20-7E1)Sor/Chd7^tm1.1Dmm Foxg1^tm1(cre)Skm/Foxg1^+	involves: 129 * C57BL/6 * Swiss Webster	MGI:4835272
cn4	Chd7^tm1.1Dmm/Chd7^+ Foxg1^tm1(cre)Skm/Foxg1^+	involves: 129 * C57BL/6 * Swiss Webster	MGI:4835273
cn5	Chd7^tm1.1Dmm/Chd7^tm1.1Dmm Foxg1^tm1(cre)Skm/Foxg1^+	involves: 129P2/OlaHsd * 129S6/SvEvTac	MGI:5807348
cn6	Chd7^tm1.1Dmm/Chd7^tm1.1Dmm Tg(Pax2-cre)1Akg/0	involves: 129S1/SvImJ * 129S6/SvEvTac * C57BL/6	MGI:7518606
cn7	Chd7^tm1.1Dmm/Chd7^tm1.1Dmm Gt(ROSA)26Sor^tm6(CAG-ZsGreen1)Hze/Gt(ROSA)26Sor^+ Shh^tm1(EGFP/cre)Cjt/Shh^+	involves: 129S1/SvlmJ * 129S6/SvEvTac * C57BL/6J * SJL/J	MGI:7518701
cn8	Chd7^tm1.1Dmm/Chd7^tm1.1Dmm Olig1^tm1(cre)Rth/Olig1^+	involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6	MGI:6117077
cn9	Chd7^tm1.1Dmm/Chd7^tm1.1Dmm Tg(rx3-icre)1Mjam/0	involves: 129S6/SvEvTac	MGI:5774845
cn10	Chd7^tm1.1Dmm/Chd7^+ Tg(rx3-icre)1Mjam/0	involves: 129S6/SvEvTac	MGI:5774943
cn11	Chd7^tm1.1Dmm/Chd7^tm1.1Dmm Tg(Pdgfra-cre/ERT)467Dbe/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:7494131
cn12	Chd7^tm1.1Dmm/Chd7^tm1.1Dmm Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S6/SvEvTac * FVB	MGI:5807349
cn13	Chd7^Gt(S20-7E1)Sor/Chd7^tm1.1Dmm Tg(T-cre)1Lwd/0	involves: 129S * C3H * C57BL/6	MGI:7518601
cn14	Chd7^Gt(S20-7E1)Sor/Chd7^tm1.1Dmm Tg(Pax2-cre)1Akg/0	involves: 129S * C57BL/6	MGI:7518554
cn15	Chd7^Gt(S20-7E1)Sor/Chd7^tm1.1Dmm Gt(ROSA)26Sor^tm6(CAG-ZsGreen1)Hze/Gt(ROSA)26Sor^+ Tg(Neurog1-cre)1Jejo/0	involves: 129S * C57BL/6 * SJL/J	MGI:7518675

Genotype
MGI:4835274

ht1

• Allelic Composition: Chd7^{Gt(S20-7E1)Sor}/Chd7^tm1.1Dmm
• Genetic Background: involves: 129 * C57BL/6 * Swiss Webster

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

hearing/vestibular/ear

decreased lateral semicircular canal size ( J:164582 )

• truncated or hypoplastic

Genotype
MGI:7518647

cn2

• 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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:310063 )

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

Genotype
MGI:4835272

cn3

• Allelic Composition: Chd7^{Gt(S20-7E1)Sor}/Chd7^tm1.1Dmm; Foxg1^tm1(cre)Skm/Foxg1⁺
• Genetic Background: involves: 129 * C57BL/6 * Swiss Webster

mortality/aging

neonatal lethality, complete penetrance ( J:164582 )

• die within 1 day of birth with no obvious milk in the stomach

hearing/vestibular/ear

abnormal ear development ( J:164582 )

• reductions in cellular proliferation at E10.5 in both the otic epithelium and the vestibulocochlear ganglion

abnormal cochlea morphology ( J:164582 )

• severe defects in cochlear structures

• severely hypoplastic

abnormal cochlear sensory epithelium morphology ( J:310063 )

• undulating appearance in the middle turn of the cochlea

increased cochlear outer hair cell number ( J:310063 )

• supernumerary rows of outer hair cells in the apical cochlea at P1

• occasional extra rows of outer hair cells n the middle turn

• basal turn also shows supernumerary hair cells

decreased cochlea coiling ( J:164582 )

• undercoiled with abnormal twisting at the apex

absent lateral semicircular canal ( J:164582 )

absent posterior semicircular canal ( J:164582 )

abnormal crista ampullaris morphology ( J:164582 )

• absent cristae

decreased superior semicircular canal size ( J:164582 )

• hypoplastic

abnormal inner ear vestibule morphology ( J:164582 )

• severe defects in vestibular structures

absent utricle ( J:164582 )

absent vestibular saccule ( J:164582 )

small endolymphatic duct ( J:164582 )

• hypoplastic

nervous system

abnormal neuronal precursor proliferation ( J:164582 )

• reductions in cellular proliferation at E10.5 in both the otic epithelium and the vestibulocochlear ganglion

increased cochlear outer hair cell number ( J:310063 )

• supernumerary rows of outer hair cells in the apical cochlea at P1

• occasional extra rows of outer hair cells n the middle turn

• basal turn also shows supernumerary hair cells

abnormal vestibulocochlear ganglion morphology ( J:164582 , J:310063 )

• about 1.5 fold smaller at E10.5-E12.5 compared to heterozygous and wild-type controls (J:164582)

• reduction in cellular proliferation at E10.5 in the vestibulocochlear ganglion (J:164582)

• neurites extending away from the hair cells show abnormal looping in the apex at P1 (J:310063)

• abnormal neuritic projections in the middle turn (J:310063)

• disorganized and misrouted neurites in the basal turn (J:310063)

abnormal neuronal precursor cell number ( J:164582 )

• severe reduction in the number of neuroblasts in the otic epithelium and vestibulocochlear ganglion at E9.5, E10.5 and E11.5

craniofacial

short snout ( J:164582 )

• at E12.5

vision/eye

ocular hypertelorism ( J:164582 )

• medially displaced eyes at E12.5

behavior/neurological

abnormal suckling behavior ( J:164582 )

• die within 1 day of birth with no obvious milk in the stomach

cellular

abnormal neuronal precursor proliferation ( J:164582 )

• reductions in cellular proliferation at E10.5 in both the otic epithelium and the vestibulocochlear ganglion

growth/size/body

short snout ( J:164582 )

• at E12.5

Genotype
MGI:4835273

cn4

• Allelic Composition: Chd7^tm1.1Dmm/Chd7⁺; Foxg1^tm1(cre)Skm/Foxg1⁺
• Genetic Background: involves: 129 * C57BL/6 * Swiss Webster

hearing/vestibular/ear

abnormal ear development ( J:164582 )

• decrease in the number of proliferating cells in the otic epithelium at E10.5

decreased lateral semicircular canal size ( J:164582 )

• truncated or hypoplastic

nervous system

abnormal vestibulocochlear ganglion morphology ( J:164582 )

• decrease in the number of proliferating cells at E9.5 but not at E10.5

Genotype
MGI:5807348

cn5

• Allelic Composition: Chd7^tm1.1Dmm/Chd7^tm1.1Dmm; Foxg1^tm1(cre)Skm/Foxg1⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac

vision/eye

abnormal lens development ( J:231044 )

• optic vesicle is present and appears normal at E9.5, however no progression toward formation of optic cup or lens structures is seen even as late as E12.5

absent optic cup ( J:231044 )

• optic vesicle is present and appears normal at E9.5, however no progression toward formation of optic cup or lens structures is seen even as late as E12.5

Genotype
MGI:7518606

cn6

• Allelic Composition: Chd7^tm1.1Dmm/Chd7^tm1.1Dmm; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129S1/SvImJ * 129S6/SvEvTac * C57BL/6

hearing/vestibular/ear

abnormal cochlea morphology ( J:310063 )

• 57% shorter compared to controls

abnormal cochlear sensory epithelium morphology ( J:310063 )

• region specific defects in innervation and patterning of the sensory epithelium

• in the middle region there is a narrowing of the epithelium with missing outer hair cells and a bifurcation of the direction of neuritic projections, with most neurites projecting towards the apex rather than the base

• severity of the phenotype in the middle region varies widely in severity

• some show undulating epithelium

increased cochlear hair cell number ( J:310063 )

• abundant supernumerary hair cells in the apex

• less frequent supernumerary hair cells in the middle section

• rarely see supernumerary hair cells in the base

nervous system

increased cochlear hair cell number ( J:310063 )

• abundant supernumerary hair cells in the apex

• less frequent supernumerary hair cells in the middle section

• rarely see supernumerary hair cells in the base

abnormal vestibulocochlear ganglion morphology ( J:310063 )

• disorganized spiral ganglion neurite projections in the apex of the cochlea

Genotype
MGI:7518701

cn7

• Allelic Composition: Chd7^tm1.1Dmm/Chd7^tm1.1Dmm; Gt(ROSA)26Sor^{tm6(CAG-ZsGreen1)Hze}/Gt(ROSA)26Sor⁺; Shh^{tm1(EGFP/cre)Cjt}/Shh⁺
• Genetic Background: involves: 129S1/SvlmJ * 129S6/SvEvTac * C57BL/6J * SJL/J

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:310063 )

N • normal hair cells and neurites at P1 in the cochlea

Genotype
MGI:6117077

cn8

• Allelic Composition: Chd7^tm1.1Dmm/Chd7^tm1.1Dmm; Olig1^tm1(cre)Rth/Olig1⁺
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

nervous system

decreased oligodendrocyte number ( J:234565 )

• decrease in the number of MBP+ oligodendrocytes in the spinal cord

• decrease in the number of CC1+ oligodendrocytes and oligodendrocyte lineage cells in the cortices

• number of CC1+ oligodendrocytes increases with age, eventually reaching control levels in the spinal cord

decreased myelin sheath thickness ( J:234565 )

• at P28 in the optic nerve

dysmyelination ( J:234565 )

• decrease in the number of myelinated axons at P14 in the optic nerve

• degree of hypomyelination decreases with age with no difference detected in the spinal cord at P60

Genotype
MGI:5774845

cn9

• Allelic Composition: Chd7^tm1.1Dmm/Chd7^tm1.1Dmm; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S6/SvEvTac

vision/eye

small lens ( J:231044 )

• lens structures are either very small or not apparent

abnormal eye development ( J:231044 )

• eye morphogenesis is severely disrupted at E12.5

abnormal optic cup morphology ( J:231044 )

• phenotypes range from highly dysmorphic optic cups in moderately affected eyes to complete absence of discernable optic cup structures in severely affected eyes

absent optic cup ( J:231044 )

• severely affected eyes show complete absence of discernable optic cup structures

coloboma ( J:231044 )

• mice show full-depth colobomas at E12.5 with complete penetrance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CHARGE syndrome		DOID:0050834	OMIM:214800	J:231044

Genotype
MGI:5774943

cn10

• Allelic Composition: Chd7^tm1.1Dmm/Chd7⁺; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S6/SvEvTac

vision/eye

coloboma ( J:231044 )

• mice show full-depth colobomas at E12.5 with complete penetrance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CHARGE syndrome		DOID:0050834	OMIM:214800	J:231044

Genotype
MGI:7494131

cn11

• Allelic Composition: Chd7^tm1.1Dmm/Chd7^tm1.1Dmm; Tg(Pdgfra-cre/ERT)467Dbe/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

nervous system

decreased oligodendrocyte progenitor number ( J:264451 )

• decrease in the number of oligodendrocyte precursor cells in the corpus callosum and cortex at P7

• however, proliferation of oligodendrocyte precursor cells is similar to controls

abnormal oligodendrocyte physiology ( J:234565 , J:264451 )

• marked reduction in differentiating oligodendrocytes in cortical regions at 11 days after induction of cre expression (J:234565)

• while the recruitment of oligodendrocyte precursors to sites of lysolecithin-induced demyelination is similar to controls, the number of oligodendrocyte lineage cells are substantially reduced at these sites resulting in reduced remyelination (J:234565)

• decrease in the number of immature oligodendrocytes and expression changes indicates impaired ability to begin differentiation (J:264451)

abnormal oligodendrocyte apoptosis ( J:264451 )

• apoptotic oligodendrocyte precursor cells are seen in P7 brains but are rarely seen in controls

cellular

decreased oligodendrocyte progenitor number ( J:264451 )

• decrease in the number of oligodendrocyte precursor cells in the corpus callosum and cortex at P7

• however, proliferation of oligodendrocyte precursor cells is similar to controls

abnormal oligodendrocyte apoptosis ( J:264451 )

• apoptotic oligodendrocyte precursor cells are seen in P7 brains but are rarely seen in controls

Genotype
MGI:5807349

cn12

• Allelic Composition: Chd7^tm1.1Dmm/Chd7^tm1.1Dmm; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S6/SvEvTac * FVB

vision/eye

small lens ( J:231044 )

• lenses at E12.5 are smaller but appear normal

• however, mice show well-formed eye structures at E12.5, the presence of optic cup and stalk, and the emerging retinal and pigmented epithelial layers from the optic cup appear normal and mice do not exhibit coloboma

Genotype
MGI:7518601

cn13

• Allelic Composition: Chd7^{Gt(S20-7E1)Sor}/Chd7^tm1.1Dmm; Tg(T-cre)1Lwd/0
• Genetic Background: involves: 129S * C3H * C57BL/6

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:310063 )

N • normal vestibular and cochlear morphologies

Genotype
MGI:7518554

cn14

• Allelic Composition: Chd7^{Gt(S20-7E1)Sor}/Chd7^tm1.1Dmm; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129S * C57BL/6

hearing/vestibular/ear

abnormal cochlea morphology ( J:310063 )

• severely malformed and hypoplastic

absent lateral semicircular canal ( J:310063 )

absent superior semicircular canal ( J:310063 )

Genotype
MGI:7518675

cn15

• Allelic Composition: Chd7^{Gt(S20-7E1)Sor}/Chd7^tm1.1Dmm; Gt(ROSA)26Sor^{tm6(CAG-ZsGreen1)Hze}/Gt(ROSA)26Sor⁺; Tg(Neurog1-cre)1Jejo/0
• Genetic Background: involves: 129S * C57BL/6 * SJL/J

nervous system

abnormal vestibulocochlear ganglion morphology ( J:310063 )

• in the apical region of the cochlea aberrant axonal projections that cross, loop, and extend beyond the epithelium are seen

• at P1 total area of the spiral ganglion is reduced