Phenotypes associated with this allele
hearing/vestibular/ear
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• truncated or hypoplastic
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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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mortality/aging
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• die within 1 day of birth with no obvious milk in the stomach
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hearing/vestibular/ear
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• reductions in cellular proliferation at E10.5 in both the otic epithelium and the vestibulocochlear ganglion
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• severe defects in cochlear structures
• severely hypoplastic
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• undulating appearance in the middle turn of the cochlea
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• 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
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• undercoiled with abnormal twisting at the apex
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• severe defects in vestibular structures
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nervous system
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• reductions in cellular proliferation at E10.5 in both the otic epithelium and the vestibulocochlear ganglion
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• 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
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• 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)
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• severe reduction in the number of neuroblasts in the otic epithelium and vestibulocochlear ganglion at E9.5, E10.5 and E11.5
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craniofacial
vision/eye
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• medially displaced eyes at E12.5
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behavior/neurological
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• die within 1 day of birth with no obvious milk in the stomach
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cellular
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• reductions in cellular proliferation at E10.5 in both the otic epithelium and the vestibulocochlear ganglion
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growth/size/body
hearing/vestibular/ear
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• decrease in the number of proliferating cells in the otic epithelium at E10.5
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• truncated or hypoplastic
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nervous system
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• decrease in the number of proliferating cells at E9.5 but not at E10.5
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vision/eye
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• 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
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• 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
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7tm1.1Dmm mutation
(1 available);
any
Chd7 mutation
(136 available)
Tg(Pax2-cre)1Akg mutation
(2 available)
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hearing/vestibular/ear
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• 57% shorter compared to controls
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• 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
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• abundant supernumerary hair cells in the apex
• less frequent supernumerary hair cells in the middle section
• rarely see supernumerary hair cells in the base
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nervous system
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• abundant supernumerary hair cells in the apex
• less frequent supernumerary hair cells in the middle section
• rarely see supernumerary hair cells in the base
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• disorganized spiral ganglion neurite projections in the apex of the cochlea
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hearing/vestibular/ear
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N |
• normal hair cells and neurites at P1 in the cochlea
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nervous system
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• 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
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• at P28 in the optic nerve
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• 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
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7tm1.1Dmm mutation
(1 available);
any
Chd7 mutation
(136 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
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vision/eye
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• lens structures are either very small or not apparent
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• eye morphogenesis is severely disrupted at E12.5
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• phenotypes range from highly dysmorphic optic cups in moderately affected eyes to complete absence of discernable optic cup structures in severely affected eyes
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• severely affected eyes show complete absence of discernable optic cup structures
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• mice show full-depth colobomas at E12.5 with complete penetrance
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7tm1.1Dmm mutation
(1 available);
any
Chd7 mutation
(136 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
|
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vision/eye
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• mice show full-depth colobomas at E12.5 with complete penetrance
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7tm1.1Dmm mutation
(1 available);
any
Chd7 mutation
(136 available)
Tg(Pdgfra-cre/ERT)467Dbe mutation
(1 available)
|
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nervous system
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• 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
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• 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)
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• apoptotic oligodendrocyte precursor cells are seen in P7 brains but are rarely seen in controls
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cellular
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• 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
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• apoptotic oligodendrocyte precursor cells are seen in P7 brains but are rarely seen in controls
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7tm1.1Dmm mutation
(1 available);
any
Chd7 mutation
(136 available)
Tg(Pax6-cre,GFP)1Pgr mutation
(2 available)
|
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vision/eye
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• 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
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hearing/vestibular/ear
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N |
• normal vestibular and cochlear morphologies
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hearing/vestibular/ear
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• severely malformed and hypoplastic
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nervous system
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• 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
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Analysis Tools
