Phenotypes Associated with This Genotype

Genotype
MGI:6101180

• Allelic Composition: Nisch^edsn/Nisch^edsn
• Genetic Background: C3H.B6-Nisch^edsn

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:244907 )

• likely due to lung defects

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:244907 )

N • no obvious abnormalities observed in the cochlea with no hair cell damage or loss

abnormal middle ear ossicle morphology ( J:244907 )

• cavity is filled with cellular exudate and thickened mucoperiosteum due to inflammation

abnormal tympanic membrane morphology ( J:244907 )

• inflammed

increased or absent threshold for auditory brainstem response ( J:244907 )

• at 3 weeks and progressively worsening with age

impaired hearing ( J:244907 )

increased susceptibility to otitis media ( J:244907 )

• from 3 weeks onward beginning as unilateral and progressing to bilateral at 20 weeks in some mice

• inflamed mucoperiosteum and tympanic membrane, increased mucosal thickness, increased macrophage infiltration, and exudate with enlarged foamy macrophages containing coarsely granular material

respiratory system

abnormal lung-associated mesenchyme development ( J:244907 )

• thickened with smaller airspaces at E16.5, E18.5 and P0 in some mice

emphysema ( J:244907 )

• enlarged airspaces with accumulation of enlarged alveolar macrophage containing coarsely granular material in adult mice

• severity corresponds to severity of otitis media

growth/size/body

short snout ( J:244907 )

decreased body size ( J:244907 )

• at 20 weeks in female and male mice

decreased body weight ( J:244907 )

• at 20 weeks in female and male mice

postnatal growth retardation ( J:244907 )

craniofacial

abnormal middle ear ossicle morphology ( J:244907 )

• cavity is filled with cellular exudate and thickened mucoperiosteum due to inflammation

short snout ( J:244907 )

immune system

increased susceptibility to otitis media ( J:244907 )

• from 3 weeks onward beginning as unilateral and progressing to bilateral at 20 weeks in some mice

• inflamed mucoperiosteum and tympanic membrane, increased mucosal thickness, increased macrophage infiltration, and exudate with enlarged foamy macrophages containing coarsely granular material

skeleton

abnormal middle ear ossicle morphology ( J:244907 )

• cavity is filled with cellular exudate and thickened mucoperiosteum due to inflammation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
otitis media		DOID:10754		J:244907