Phenotypes Associated with This Genotype

Genotype
MGI:2684771

• Allelic Composition: Chd7^Edy/Chd7⁺
• Genetic Background: involves: BALB/c * C3H/HeN

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

behavior/neurological

head tossing ( J:75619 )

• described as head weaving

circling ( J:63816 )

growth/size/body

decreased body size ( J:75619 )

• described as small in size

hearing/vestibular/ear

abnormal incus morphology ( J:75619 )

• incomplete penetrance, 91% of bones; pointed or bobble-shaped end of the incudomalleal articulatory area; also seen in control mice at lower incidence (56%)

abnormal malleus morphology ( J:75619 )

• incomplete penetrance, 11% of bones; abnormal incudomalleal joint

abnormal stapes morphology ( J:75619 )

• incomplete penetrance, 64% of bones; malformed stirrup and/or abnormal crura

abnormal stapes crus morpholgy ( J:75619 )

• thin or skewed crura

abnormal lateral semicircular canal morphology ( J:75619 )

• truncation of lateral canal with occasional absence of lateral ampulla

abnormal posterior semicircular canal morphology ( J:75619 )

• variable penetrance of defects including small or absent canal and ampullae; variability often noted within left and right ears of same animal

decreased cochlear nerve compound action potential ( J:75619 )

• slight increase in CAP thresholds in mutant mice at various ages

• normal endocochlear potentials are seen

skeleton

abnormal incus morphology ( J:75619 )

• incomplete penetrance, 91% of bones; pointed or bobble-shaped end of the incudomalleal articulatory area; also seen in control mice at lower incidence (56%)

abnormal malleus morphology ( J:75619 )

• incomplete penetrance, 11% of bones; abnormal incudomalleal joint

abnormal stapes morphology ( J:75619 )

• incomplete penetrance, 64% of bones; malformed stirrup and/or abnormal crura

abnormal stapes crus morpholgy ( J:75619 )

• thin or skewed crura

abnormal incudomalleolar joint morphology ( J:75619 )

• defects involving the incudomalleal articulatory area varying from complete absence to a pointed or bobble-shaped end

nervous system

decreased cochlear nerve compound action potential ( J:75619 )

• slight increase in CAP thresholds in mutant mice at various ages

• normal endocochlear potentials are seen

craniofacial

abnormal incus morphology ( J:75619 )

• incomplete penetrance, 91% of bones; pointed or bobble-shaped end of the incudomalleal articulatory area; also seen in control mice at lower incidence (56%)

abnormal malleus morphology ( J:75619 )

• incomplete penetrance, 11% of bones; abnormal incudomalleal joint

abnormal stapes morphology ( J:75619 )

• incomplete penetrance, 64% of bones; malformed stirrup and/or abnormal crura

abnormal stapes crus morpholgy ( J:75619 )

• thin or skewed crura