Phenotypes Associated with This Genotype

Genotype
MGI:3717773

• Allelic Composition: Grxcr1^pi/Grxcr1^pi
• Genetic Background: B6.C3-Grxcr1^pi/J

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

hearing/vestibular/ear

abnormal cochlear hair bundle tip links morphology ( J:94385 )

• inner hair cell stereicilia tip links are not seen

abnormal cochlear inner hair cell morphology ( J:94385 )

• each inner hair cell and type I vestibular hair cell contained an actin bundle that spans from the region of the cuticular plate to the basal end of the cell, then extends along with cytoplasm and membrane, towards the basement membrane

• these abnormal structure was named cytocauds

abnormal inner hair cell stereociliary bundle morphology ( J:94385 )

• appear disorganized at P30

• typical two-row organization and height gradation is absent

• tip-links and kinocilia are not seen

absent inner hair cell kinocilia ( J:94385 )

decreased inner hair cell stereocilia number ( J:94385 )

• the number of the stereocilia on each cell appear smaller

short inner hair cell stereocilia ( J:94385 )

• appear short at P30

abnormal type I vestibular cell ( J:94385 )

• each inner hair cell and type I vestibular hair cell contained an actin bundle that spans from the region of the cuticular plate to the basal end of the cell, then extends along with cytoplasm and membrane, towards the basement membrane

• abnormal contact with the basement membrane

• these abnormal structure was named cytocauds

increased or absent threshold for auditory brainstem response ( J:94385 )

• responses were only obtained at 8 kHz between 14 and 28 days to a significantly increase level of stimuli of 90 dB SPL or higher

• after 28 days, no response at any stimulus was observed at any frequency

deafness ( J:94385 )

• profound deafness based on ABR threshold of mutant mice at several developmental stages

nervous system

abnormal cochlear hair bundle tip links morphology ( J:94385 )

• inner hair cell stereicilia tip links are not seen

abnormal cochlear inner hair cell morphology ( J:94385 )

• each inner hair cell and type I vestibular hair cell contained an actin bundle that spans from the region of the cuticular plate to the basal end of the cell, then extends along with cytoplasm and membrane, towards the basement membrane

• these abnormal structure was named cytocauds

abnormal inner hair cell stereociliary bundle morphology ( J:94385 )

• appear disorganized at P30

• typical two-row organization and height gradation is absent

• tip-links and kinocilia are not seen

absent inner hair cell kinocilia ( J:94385 )

decreased inner hair cell stereocilia number ( J:94385 )

• the number of the stereocilia on each cell appear smaller

short inner hair cell stereocilia ( J:94385 )

• appear short at P30

abnormal type I vestibular cell ( J:94385 )

• each inner hair cell and type I vestibular hair cell contained an actin bundle that spans from the region of the cuticular plate to the basal end of the cell, then extends along with cytoplasm and membrane, towards the basement membrane

• abnormal contact with the basement membrane

• these abnormal structure was named cytocauds

cellular

absent inner hair cell kinocilia ( J:94385 )