Phenotypes associated with this allele

• Allele Symbol: Eya4^tm1Jse
• Allele Name: targeted mutation 1, Jonathan G Seidman
• Allele ID: MGI:3775095
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Eya4^tm1Jse/Eya4^tm1Jse	129S6/SvEvTac-Eya4^tm1Jse	MGI:3776754
hm2	Eya4^tm1Jse/Eya4^tm1Jse	involves: 129S6/SvEvTac * CBA/J	MGI:3776413

Genotype
MGI:3776754

hm1

• Allelic Composition: Eya4^tm1Jse/Eya4^tm1Jse
• Genetic Background: 129S6/SvEvTac-Eya4^tm1Jse

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

mortality/aging

postnatal lethality, complete penetrance ( J:131873 )

• Background Sensitivity: all mice on the 129S6 background die shortly after birth

Genotype
MGI:3776413

hm2

• Allelic Composition: Eya4^tm1Jse/Eya4^tm1Jse
• Genetic Background: involves: 129S6/SvEvTac * CBA/J

Middle ear pathology shows that Eya4^tm1Jse/Eya4^tm1Jse mice develop otitis media

cellular

increased middle ear goblet cell number ( J:131873 )

• middle ear cavity epithelium of young mice has increased numbers of goblet cells

mortality/aging

postnatal lethality, complete penetrance ( J:131873 )

• Background Sensitivity: no homozygous pups are recovered at weaning when parental animals are backcrossed 2 or less generations to CBA/J; from the F3 generation onward on a 129S6-CBA/J mixed background, most animals survive to 21 days of age

homeostasis/metabolism

middle ear effusion ( J:131873 )

• middle ear effusions with or without air bubbles are observed through the ear drum of mutants at postnatal days 14-16

• 3-week old mice show middle ear effusions, consistent with otitis media; mice show serous effusions with few granulocytes, while older mice have more purulent effusions with abundant granulocytes

growth/size/body

abnormal palate bone morphology ( J:131873 )

• incomplete fusion of palatal bones is seen in skulls of newborn mutants

decreased body weight ( J:131873 )

• mutant and wild-type body weights are comparable at birth, but adult mutants weigh 25% less than wild-type littermates and at 10 months of age, average weight is significantly lower than wild-type

hearing/vestibular/ear

abnormal auditory tube morphology ( J:131873 )

• eustachian tube's medial osseus segment and opening within the tympanic cavity (OpTC) are abnormal and diminuitive, being about half the size of wild-type

• opening within the tympanic cavity (OpTC) is narrowed and abnormally positioned at the anterior perimeter of the middle ear

• some mice have a polyp obstructing the OpTC

abnormal middle ear epithelium morphology ( J:131873 )

• middle ear cavity epithelium of young mice is swollen

• by 16 months, cilia density is diminished and epithelial swelling is more pronounced

increased middle ear goblet cell number ( J:131873 )

• middle ear cavity epithelium of young mice has increased numbers of goblet cells

abnormal tympanic cavity morphology ( J:131873 )

• at postnatal days 11-12, middle ear cavity of mutants remains full of mesenchyme whereas middle ear cavity of wild-type mice is largely aerated with mesenchymal cells found only near ossicles

middle ear effusion ( J:131873 )

• middle ear effusions with or without air bubbles are observed through the ear drum of mutants at postnatal days 14-16

• 3-week old mice show middle ear effusions, consistent with otitis media; mice show serous effusions with few granulocytes, while older mice have more purulent effusions with abundant granulocytes

abnormal tympanic membrane morphology ( J:131873 )

• 3-week old mice all display hypervascularity of the tympanic membrane along the manubrium of the malleus

tympanic membrane retraction ( J:131873 )

• tympanic membrane retraction is observed at postnatal days 14-16

• at 3 weeks all mutants display marked tympanic membrane retraction with hypervascularity

middle ear polyps ( J:131873 )

• some mice have a polyp obstructing the OpTC

abnormal auditory brainstem response ( J:131873 )

• 10-week old mice show significant functional loss in peripheral auditory sensitivity relative to wild-type

abnormal distortion product otoacoustic emission ( J:131873 )

• 10-week old mice show significant functional loss in peripheral auditory sensitivity relative to wild-type

increased susceptibility to otitis media ( J:131873 )

• all mice show similar degree of bilateral otitis media with effusion when allele is on CBA/J, C57BL/6, BALB/c, and Swiss Webster backgrounds, whereas wild-type mice of those strains show no signs of inflammation

reproductive system

male infertility ( J:131873 )

♂ • homozygous males are sterile or have severely diminished fertility; only 2 litters were produced by 13 homozygous males of reproductive age compared to normal fertility of wild-type and heterozygous males

craniofacial

abnormal palate bone morphology ( J:131873 )

• incomplete fusion of palatal bones is seen in skulls of newborn mutants

digestive/alimentary system

abnormal palate bone morphology ( J:131873 )

• incomplete fusion of palatal bones is seen in skulls of newborn mutants

immune system

increased susceptibility to otitis media ( J:131873 )

• all mice show similar degree of bilateral otitis media with effusion when allele is on CBA/J, C57BL/6, BALB/c, and Swiss Webster backgrounds, whereas wild-type mice of those strains show no signs of inflammation

skeleton

abnormal palate bone morphology ( J:131873 )

• incomplete fusion of palatal bones is seen in skulls of newborn mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
otitis media		DOID:10754		J:131873