Phenotypes Associated with This Genotype

Genotype
MGI:3818653

• Allelic Composition: Strc^tm1Ugds/Strc^tm1Ugds
• Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * C57BL/6J

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

hearing/vestibular/ear

abnormal outer hair cell stereociliary bundle morphology ( J:141421 )

• hair-bundle imprints corresponding to the anchoring points of the tallest outer hair cell stereocilia are absent

• the tops of the stereocilia rows in all outer hair cells, but not inner hair cells, are not as clearly aligned as in wild-type mice

abnormal hearing electrophysiology ( J:141421 )

• at P14, simultaneous masking of CAP is weakened compared to in wild-type mice

• at P60, mice exhibit an increase in compound auditory potential (CAP) threshold compared to in wild-type mice due to loss of functional mechanoelectrical transducer channels

abnormal cochlear microphonics ( J:141421 )

• from P15 to P60, the amplitude of cochlear microphonic response decreased compared to in wild-type mice indicating a loss of mechanoelectrical transducer channels

• however, cochlear microphonic waves have the same phase as in wild-type mice

absent distortion product otoacoustic emissions ( J:141421 )

• up to 80 db from P14 onward

impaired hearing ( J:141421 )

• from P15

nervous system

abnormal outer hair cell stereociliary bundle morphology ( J:141421 )

• hair-bundle imprints corresponding to the anchoring points of the tallest outer hair cell stereocilia are absent

• the tops of the stereocilia rows in all outer hair cells, but not inner hair cells, are not as clearly aligned as in wild-type mice

abnormal cochlear microphonics ( J:141421 )

• from P15 to P60, the amplitude of cochlear microphonic response decreased compared to in wild-type mice indicating a loss of mechanoelectrical transducer channels

• however, cochlear microphonic waves have the same phase as in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 16		DOID:0110471	OMIM:603720	J:141421