Phenotypes Associated with This Genotype

Genotype
MGI:3582554

• Allelic Composition: Sox2^ysb/Sox2^ysb
• Genetic Background: involves: C57BL/6 * CBA

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

behavior/neurological

abnormal pinna reflex ( J:77358 )

• weak Preyer reflex

impaired righting response ( J:77358 )

abnormal placing response ( J:77358 )

• abnormal reach response

impaired swimming ( J:77358 )

head tossing ( J:77358 )

circling ( J:77358 )

hearing/vestibular/ear

abnormal inner ear morphology ( J:98458 )

dilated cochlea ( J:98458 )

• occasional swollen appearance

abnormal cochlear hair cell morphology ( J:98458 )

• basal regions of the cochlea contained patches of hair cells with no distinction between inner and outer hair cell types

• apical regions had irregular but continuous rows of hair cells

• hair cells survived until at least P30 with some function

decreased cochlea coiling ( J:98458 )

• undercoiled cochlea

absent vestibular hair cells ( J:98458 )

• absent from utricle

abnormal semicircular canal morphology ( J:98458 )

• truncated semicircular canals

abnormal sulcus ampullaris morphology ( J:98458 )

• absent anterior and lateral ampullae

decreased cochlear nerve compound action potential ( J:77358 )

• responses were seen only at 80-90dB sound pressure level compared to controls at 40dB

deafness ( J:77358 )

pigmentation

yellow coat color ( J:77358 )

• absence of black awls, agouti awls contained long pheomelanin bands and short bands were nearly undetectable

nervous system

abnormal cochlear hair cell morphology ( J:98458 )

• basal regions of the cochlea contained patches of hair cells with no distinction between inner and outer hair cell types

• apical regions had irregular but continuous rows of hair cells

• hair cells survived until at least P30 with some function

absent vestibular hair cells ( J:98458 )

• absent from utricle

decreased cochlear nerve compound action potential ( J:77358 )

• responses were seen only at 80-90dB sound pressure level compared to controls at 40dB

integument

abnormal auchene hair morphology ( J:77358 )

• slight increase in the total number of auchene hairs

• unchanged number of monotrich hairs with unchanged color

abnormal awl hair morphology ( J:77358 )

• significant decrease in the total numbers of awl hairs

yellow coat color ( J:77358 )

• absence of black awls, agouti awls contained long pheomelanin bands and short bands were nearly undetectable

abnormal zigzag hair morphology ( J:77358 )

• significantly greater numbers of zigzag hairs