Phenotypes Associated with This Genotype

Genotype
MGI:5527173

• Allelic Composition: Tecta^tm4.1Gpr/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 only apparent in apical, lower-frequency regions

abnormal Hensen stripe morphology ( J:203482 )

• Hensen's stripe is no longer attached directly to the tectorial membrane

abnormal tectorial membrane morphology ( J:203482 )

• hump-backed tectorial membrane with reduced extent of the limbal zone and medially displaced marginal band

• most apparent changes are in the cross-sectional profile and the extent of limbal attachment

• the dense matrix is mostly missing from the severely reduced limbal zone

• collagen fibrils erupt form the upper surface of the tectorial membrane in the inner sulcal region and occasionally extend out from the lower surface in the sulcal region immediately adjacent to the limbal attachment point

abnormal Kimura membrane morphology ( J:203482 )

• Kimura's membrane is delaminated and fenestrated

abnormal tectorial membrane covernet morphology ( J:203482 )

• covernet fibrils are reduced in numbers, more convoluted and run both longitudinally and radially across the surface of the tectorial membrane compared to in wild-type mice

• covernet fibrils in the sulcal and more medial regions are less tightly associated with the main body of the tectorial membrane

abnormal tectorial membrane striated-sheet matrix morphology ( J:203482 )

• the striated-sheet matrix is restricted to the lateral part of the tectorial membrane

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

• intermediate hearing loss between that observed in Tecta^tm3.1Gpr and Tecta^tm5.1Gpr heterozygotes

impaired hearing ( J:203482 )

• however, increase is stable with time

• intermediate hearing loss between that observed in Tecta^tm3.1Gpr and 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 only apparent in apical, lower-frequency regions

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