Phenotypes Associated with This Genotype

Genotype
MGI:2668352

• Allelic Composition: Celsr1^Crsh/Celsr1⁺
• Genetic Background: involves: 101/H * BALB/c * C3H/HeH

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

behavior/neurological

head shaking ( J:84285 , J:216413 )

• Background Sensitivity: shaky-head behavior is more penetrant, seen in 68% of mice, compared to mice on a congenic C3H/HeH background in which 32% exhibit this phenotype (J:216413)

spinning ( J:84285 )

• heterozygotes exhibit belly curling and spinning during tail suspension

• however, no obvious peripheral vestibular defects are detected in adulthood

hearing/vestibular/ear

abnormal cochlear sensory epithelium morphology ( J:84285 )

• heterozygotes exhibit a positive Preyer's reflex in response to a 20 kHz, 90 dB SPL tone burst, indicating that they are not profoundly deaf

• however, heterozygotes show mild defects in planar cell polarity of the sensory epithelium

abnormal orientation of outer hair cell stereociliary bundles ( J:84285 )

• adult heterozygotes display mildly misoriented OHC stereociliary bundles in the apical cochlear relative to Celsr1^Scy heterozygotes, with fewer OHCs being affected

• in contrast, IHC stereociliary bundle orientation remains unaffected

nervous system

abnormal orientation of outer hair cell stereociliary bundles ( J:84285 )

• adult heterozygotes display mildly misoriented OHC stereociliary bundles in the apical cochlear relative to Celsr1^Scy heterozygotes, with fewer OHCs being affected

• in contrast, IHC stereociliary bundle orientation remains unaffected