Phenotypes Associated with This Genotype

Genotype
MGI:4881776

• Allelic Composition: Triobp^tm1Tbf/Triobp^tm1Tbf
• Genetic Background: C57BL/6-Triobp^tm1Tbf

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:167947 )

N • inner ear morphology is grossly normal

N • hair cells exhibit normal mechano-electrical transduction

abnormal cochlear hair cell development ( J:167947 )

• between P1 and P16, stereocilia rootlets do not form unlike in wild-type mice

• however, stereocilia length is normal

abnormal inner hair cell stereociliary bundle morphology ( J:167947 )

• as early as P1, mice exhibit defects in stereocilia bundles with peripheral stereocilia deviating outward compared with wild-type mice

fused inner hair cell stereocilia ( J:167947 )

abnormal outer hair cell stereociliary bundle morphology ( J:167947 )

• as early as P1, mice exhibit defects in stereocilia bundles with peripheral stereocilia deviating outward compared with wild-type mice

fused outer hair cell stereocilia ( J:167947 )

decreased cochlear hair cell stereocilia number ( J:167947 )

• by P16, mice exhibit progressive stereocilia degeneration unlike in wild-type mice

abnormal cochlear hair cell physiology ( J:167947 )

• stereocilia are twice as flexible as in wild-type stereocilia with a 4-fold increase in deflection by fluid-jet stimuli

• stereocilia pivot stiffness is decreased before and after a large stimulus or BAPTA treatment unlike in wild-type mice

• stereocilia are more fragile than in wild-type mice

increased or absent threshold for auditory brainstem response ( J:167947 )

deafness ( J:167947 )

• profound

nervous system

abnormal cochlear hair cell development ( J:167947 )

• between P1 and P16, stereocilia rootlets do not form unlike in wild-type mice

• however, stereocilia length is normal

abnormal inner hair cell stereociliary bundle morphology ( J:167947 )

• as early as P1, mice exhibit defects in stereocilia bundles with peripheral stereocilia deviating outward compared with wild-type mice

fused inner hair cell stereocilia ( J:167947 )

abnormal outer hair cell stereociliary bundle morphology ( J:167947 )

• as early as P1, mice exhibit defects in stereocilia bundles with peripheral stereocilia deviating outward compared with wild-type mice

fused outer hair cell stereocilia ( J:167947 )

decreased cochlear hair cell stereocilia number ( J:167947 )

• by P16, mice exhibit progressive stereocilia degeneration unlike in wild-type mice

abnormal cochlear hair cell physiology ( J:167947 )

• stereocilia are twice as flexible as in wild-type stereocilia with a 4-fold increase in deflection by fluid-jet stimuli

• stereocilia pivot stiffness is decreased before and after a large stimulus or BAPTA treatment unlike in wild-type mice

• stereocilia are more fragile than in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 28		DOID:0110486	OMIM:609823	J:167947