Phenotypes associated with this allele

• Allele Symbol: Isl1^Drsh
• Allele Name: dearisch
• Allele ID: MGI:5523699
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Isl1^Drsh/Isl1^Drsh	C3HeB/FeJ-Isl1^Drsh	MGI:5523700
ht2	Isl1^Drsh/Isl1^+	C3HeB/FeJ-Isl1^Drsh	MGI:5523701

Genotype
MGI:5523700

hm1

• Allelic Composition: Isl1^Drsh/Isl1^Drsh
• Genetic Background: C3HeB/FeJ-Isl1^Drsh

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

mortality/aging

embryonic lethality, complete penetrance ( J:202214 )

• only 1 immature and abnormal mouse is recovered at E9.5

Genotype
MGI:5523701

ht2

• Allelic Composition: Isl1^Drsh/Isl1⁺
• Genetic Background: C3HeB/FeJ-Isl1^Drsh

growth/size/body

excessive cerumen ( J:202214 )

• excessive cerumen in the external ear canal (12 of 14)

homeostasis/metabolism

middle ear effusion ( J:202214 )

• fluid in the middle ear (11 of 14)

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:202214 )

N • the inner are appears grossly normal

abnormal malleus morphology ( J:202214 )

• crystalline deposits around the malleus (in 6 of 14 mice)

fusion of middle ear ossicles ( J:202214 )

• bony outgrowths that sometimes include fusion of ossicles (in 9 of 14 mice)

excessive cerumen ( J:202214 )

• excessive cerumen in the external ear canal (12 of 14)

abnormal auditory bulla morphology ( J:202214 )

• white bony bulla instead of translucent bone (in 12 of 14 mice) and abnormally vascularized bulla (5 of 14)

middle ear effusion ( J:202214 )

• fluid in the middle ear (11 of 14)

abnormal tympanic membrane morphology ( J:202214 )

• vascularized tympanic membrane (in 5 of 14 mice)

increased or absent threshold for auditory brainstem response ( J:202214 )

• from 3 weeks of age that does not progress with age

impaired hearing ( J:202214 )

• from 3 weeks of age that does not progress with age likely due to chronic otitis media

increased susceptibility to otitis media ( J:202214 )

• chronic otitis media of varying severity in the middle ear with intact tympanic membrane, white bony bulla instead of translucent bone (in 12 of 14 mice), abnormally vascularized bulla (5 of 14), vascularized tympanic membrane (5 of 14), fluid in the middle ear (11 of 14), mucosal edema (6 of 14), crystalline deposits around the malleus (6 of 14), bony outgrowths that sometimes include fusion of ossicles (9 of 14) and excessive cerumen in the external ear canal (12 of 14)

craniofacial

abnormal malleus morphology ( J:202214 )

• crystalline deposits around the malleus (in 6 of 14 mice)

fusion of middle ear ossicles ( J:202214 )

• bony outgrowths that sometimes include fusion of ossicles (in 9 of 14 mice)

excessive cerumen ( J:202214 )

• excessive cerumen in the external ear canal (12 of 14)

behavior/neurological

absent pinna reflex ( J:202214 )

• from several months of age

immune system

increased susceptibility to otitis media ( J:202214 )

• chronic otitis media of varying severity in the middle ear with intact tympanic membrane, white bony bulla instead of translucent bone (in 12 of 14 mice), abnormally vascularized bulla (5 of 14), vascularized tympanic membrane (5 of 14), fluid in the middle ear (11 of 14), mucosal edema (6 of 14), crystalline deposits around the malleus (6 of 14), bony outgrowths that sometimes include fusion of ossicles (9 of 14) and excessive cerumen in the external ear canal (12 of 14)

skeleton

abnormal malleus morphology ( J:202214 )

• crystalline deposits around the malleus (in 6 of 14 mice)

fusion of middle ear ossicles ( J:202214 )

• bony outgrowths that sometimes include fusion of ossicles (in 9 of 14 mice)