Phenotypes Associated with This Genotype

Genotype
MGI:5527171

• Allelic Composition: Tecta^tm3.1Gpr/Tecta⁺
• Genetic Background: involves: 129S/SvEv

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

hearing/vestibular/ear

abnormal cochlear hair cell stereociliary bundle morphology ( J:203482 )

• reduced hair-bundle attachment with imprints not observed in the apical, low-frequency regions and are only apparent in more basal regions

abnormal Hensen stripe morphology ( J:203482 )

• Hensen's stripe not as prominent as in wild-type mice

• Hensen's stripe lacks typical V-shape

abnormal tectorial membrane morphology ( J:203482 )

• distorted cross-sectional profile with the limbal zone not extending fully across the surface of the spiral limbus in the medial direction, disrupted marginal band, and not as prominent Hensen's stripe as in wild-type mice

• the covernet is hard to discern with reduced fibril diameter with the presence of exceptionally large diameter fibrils

abnormal tectorial membrane covernet morphology ( J:203482 )

abnormal tectorial membrane marginal band morphology ( J:203482 )

• disrupted marginal band

increased or absent threshold for auditory brainstem response ( J:203482 )

• less severe hearing loss than in Tecta^tm4.1Gpr or Tecta^tm5.1Gpr heterozygotes

• however, increase is stable with time

impaired hearing ( J:203482 )

• less severe hearing loss than in Tecta^tm4.1Gpr or Tecta^tm5.1Gpr heterozygotes

behavior/neurological

audiogenic seizures ( J:203482 )

• preceded by wild running

nervous system

audiogenic seizures ( J:203482 )

• preceded by wild running

abnormal cochlear hair cell stereociliary bundle morphology ( J:203482 )

• reduced hair-bundle attachment with imprints not observed in the apical, low-frequency regions and are only apparent in more basal regions

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant nonsyndromic deafness 12		DOID:0110544	OMIM:601543	J:203482