Phenotypes Associated with This Genotype

Genotype
MGI:2668356

• Allelic Composition: Celsr1^Scy/Celsr1^Scy
• Genetic Background: involves: BALB/cAnN * C3H/He * C3H/HeH

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

mortality/aging

perinatal lethality, complete penetrance ( J:84285 )

• homozygotes die perinatally, as a result of craniorachischisis

nervous system

abnormal outer hair cell kinocilium location or orientation ( J:84285 )

• in the apex at E16.5, the kinocilium is found in abnormal positions

incomplete rostral neuropore closure ( J:84285 )

• at E8.5 (~10 somite stage), homozygotes fail to initiate neural tube closure in the prospective cervical region (closure-1)

• however, neural tube closure in the forebrain and rostral midbrain occurs normally

craniorachischisis ( J:84285 )

• at E12.5, the neural tube is open from the midbrain/hindbrain boundary throughout the spine

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

• at E18.5, homozygotes display extensive rotation of OHC stereociliary bundles along the entire length of the cochlear duct

• orientation of OHC bundles is random, including some bundles with a rotation of ~180 relative to the normal plane of orientation

• in the apex, OHC bundle misorientation is noted as early as E16.5

• in contrast, IHC stereociliary bundle orientation remains unaffected

hearing/vestibular/ear

abnormal cochlear sensory epithelium morphology ( J:84285 )

• homozygotes exhibit severe defects in planar cell polarity of the sensory epithelium

abnormal outer hair cell kinocilium location or orientation ( J:84285 )

• in the apex at E16.5, the kinocilium is found in abnormal positions

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

• at E18.5, homozygotes display extensive rotation of OHC stereociliary bundles along the entire length of the cochlear duct

• orientation of OHC bundles is random, including some bundles with a rotation of ~180 relative to the normal plane of orientation

• in the apex, OHC bundle misorientation is noted as early as E16.5

• in contrast, IHC stereociliary bundle orientation remains unaffected

vision/eye

absent eyelids ( J:84285 )

• homozygous fetuses often exhibit a delay or failure of eyelid closure

• at E17.5, homozygotes exhibit absence of eyelids

embryo

incomplete rostral neuropore closure ( J:84285 )

• at E8.5 (~10 somite stage), homozygotes fail to initiate neural tube closure in the prospective cervical region (closure-1)

• however, neural tube closure in the forebrain and rostral midbrain occurs normally

craniorachischisis ( J:84285 )

• at E12.5, the neural tube is open from the midbrain/hindbrain boundary throughout the spine

cellular

abnormal outer hair cell kinocilium location or orientation ( J:84285 )

• in the apex at E16.5, the kinocilium is found in abnormal positions