Phenotypes associated with this allele

• Allele Symbol: Grxcr1^pi
• Allele Name: pirouette
• Allele ID: MGI:1856991
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Grxcr1^pi/Grxcr1^pi	B6.C3-Grxcr1^pi/J	MGI:3717773
hm2	Grxcr1^pi/Grxcr1^pi	involves: C3H	MGI:3717772

Genotype
MGI:3717773

hm1

• 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 )

Genotype
MGI:3717772

hm2

• Allelic Composition: Grxcr1^pi/Grxcr1^pi
• Genetic Background: involves: C3H

behavior/neurological

abnormal reflex ( J:13131 )

• no evidence of auditory response at 21 to 30 days of age to sound

impaired swimming ( J:13131 )

• can not swim on the surface of water or in a coordinated manner

head bobbing ( J:13131 )

• vertical movement of head with the nose maintained high momentarily

bidirectional circling ( J:13131 )

• whirling rapidly in circles of small diameter continuously for a long time by approximately 14 days of age

• no pronounced preference for right or left turning

increased stereotypic behavior ( J:13131 )

• beginning at approximately 10 days of age mutant mice first display backing or crab-like movements

• occasional running in circles

• figure eight movements

hearing/vestibular/ear

cochlear hair cell degeneration ( J:13130 )

• the hair cells and the supporting cells start to degenerate by two weeks of age

organ of Corti degeneration ( J:13130 )

• although the organ of Corti develops normally, degeneration is found by the second week of life

stria vascularis degeneration ( J:13130 )

• after two month

abnormal tectorial membrane morphology ( J:13130 )

• the tectorial membrane is thickened at 12 days of age

abnormal crista ampullaris morphology ( J:13130 )

• cristae ampullares degenerate after eight months of age

vestibular saccular macula degeneration ( J:13130 )

• by 6 th weeks

• macula of the utriculus remains unaffected

deafness ( J:13130 )

abnormal vestibular system physiology ( J:13131 )

• cyclostat assessment suggests that these mutants do not develop rotational dizziness

nervous system

cochlear hair cell degeneration ( J:13130 )

• the hair cells and the supporting cells start to degenerate by two weeks of age

cochlear ganglion degeneration ( J:13130 )

• by four weeks of age

abnormal vestibular ganglion morphology ( J:13130 )

• a reduction of the average cell size in mice older than 200 days

• contains about the same number of cells and the range of cell sizes, however, there are much less large and more small cells