Phenotypes Associated with This Genotype

Genotype
MGI:3826852

• Allelic Composition: Bsnd^tm1Tjj/Bsnd^tm1Tjj; Tg(Sox10-cre)1Wdr/0
• Genetic Background: involves: 129/Sv * 129X1/SvJ * C57BL/6

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

hearing/vestibular/ear

abnormal vestibuloocular dark reflex ( J:143314 )

• mice exhibit abnormal gain and phase of angular vestibulo ocular reflexes (VOR) in the dark compared to wild-type mice

• however, VORs in the light are normal

cochlear outer hair cell degeneration ( J:143314 )

• after 3 weeks, outer hair cells in the basal turn begin to degenerate

abnormal stria vascularis morphology ( J:143314 )

• as the stria vascularis degenerates it loses the normal interdigitation of marginal and intermediate cells

• however, all cell types are retained

stria vascularis degeneration ( J:143314 )

thin stria vascularis ( J:143314 )

• at 2 weeks, the width of the stria vascularis is reduced by 30% to 50% compared to in wild-type mice

decreased endocochlear potential ( J:143314 )

• between P20 and P30

increased or absent threshold for auditory brainstem response ( J:143314 )

• at 3 weeks, mice exhibit hearing loss of about 60 dB as measured by auditory brainstem response that is less severe than in Slc12a2^tm2Bhk homozygotes

absent distortion product otoacoustic emissions ( J:143314 )

• at 3 to 4 weeks

behavior/neurological

abnormal vestibuloocular dark reflex ( J:143314 )

• mice exhibit abnormal gain and phase of angular vestibulo ocular reflexes (VOR) in the dark compared to wild-type mice

• however, VORs in the light are normal

nervous system

cochlear outer hair cell degeneration ( J:143314 )

• after 3 weeks, outer hair cells in the basal turn begin to degenerate

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bartter disease type 4a		DOID:0110145	OMIM:602522	J:143314