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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Chd7Edy
eddy
MGI:1862012
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Chd7Edy/Chd7+ involves: BALB/c * C3H/HeN MGI:2684771


Genotype
MGI:2684771
ht1
Allelic
Composition
Chd7Edy/Chd7+
Genetic
Background
involves: BALB/c * C3H/HeN
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7Edy mutation (2 available); any Chd7 mutation (138 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• described as head weaving

growth/size/body
• described as small in size

hearing/vestibular/ear
• incomplete penetrance, 91% of bones; pointed or bobble-shaped end of the incudomalleal articulatory area; also seen in control mice at lower incidence (56%)
• incomplete penetrance, 11% of bones; abnormal incudomalleal joint
• incomplete penetrance, 64% of bones; malformed stirrup and/or abnormal crura
• thin or skewed crura
• truncation of lateral canal with occasional absence of lateral ampulla
• variable penetrance of defects including small or absent canal and ampullae; variability often noted within left and right ears of same animal
• slight increase in CAP thresholds in mutant mice at various ages
• normal endocochlear potentials are seen

skeleton
• incomplete penetrance, 91% of bones; pointed or bobble-shaped end of the incudomalleal articulatory area; also seen in control mice at lower incidence (56%)
• incomplete penetrance, 11% of bones; abnormal incudomalleal joint
• incomplete penetrance, 64% of bones; malformed stirrup and/or abnormal crura
• thin or skewed crura
• defects involving the incudomalleal articulatory area varying from complete absence to a pointed or bobble-shaped end

nervous system
• slight increase in CAP thresholds in mutant mice at various ages
• normal endocochlear potentials are seen

craniofacial
• incomplete penetrance, 91% of bones; pointed or bobble-shaped end of the incudomalleal articulatory area; also seen in control mice at lower incidence (56%)
• incomplete penetrance, 11% of bones; abnormal incudomalleal joint
• incomplete penetrance, 64% of bones; malformed stirrup and/or abnormal crura
• thin or skewed crura





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory