Phenotypes Associated with This Genotype

Genotype
MGI:3028973

• Allelic Composition: Shh^tm1Chg/Shh^tm1Chg
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

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

hearing/vestibular/ear

abnormal otic vesicle development ( J:79100 )

• a delay in resorption of epithelia in the prospective superior and posterior semicircular canals is observed at E12.5

• absence of Shh affects development of periotic and condensing mesenchyme during otic vesicle development

absent scala media ( J:79100 )

• completely absent from inner ear at E15.5; in place of this structure is a rudimentary structure resembling the otocyst

absent lateral semicircular canal ( J:79100 )

• lateral canal is absent at E15.5

abnormal posterior semicircular canal morphology ( J:79100 )

• canal is poorly formed at E15.5

• ampulla is not developed

abnormal superior semicircular canal morphology ( J:79100 )

• canal is poorly formed at E15.5

• ampulla is not developed

absent utricle ( J:79100 )

• no distinct development is noted at E15.5

absent vestibular saccule ( J:79100 )

• no distinct development is noted at E15.5

absent endolymphatic duct ( J:79100 )

• absent at E15.5

nervous system

absent vestibulocochlear ganglion ( J:79100 )

• fails to form in mutants