Phenotypes Associated with This Genotype

Genotype
MGI:3055562

• Allelic Composition: Hmx2^tm2Tlu/Hmx2^tm2Tlu; Hmx3^tm4(Hmx)Tlu/Hmx3^tm4(Hmx)Tlu
• Genetic Background: either: (involves: 129) or (involves: 129 * C57BL/6J)

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

behavior/neurological

head tilt ( J:92940 )

• behavior associated with vestibular defects is seen with variable penetrance from 2 weeks of age

hyperactivity ( J:92940 )

• behavior associated with vestibular defects is seen with variable penetrance from 2 weeks of age

circling ( J:92940 )

• behavior associated with vestibular defects is seen with variable penetrance from 2 weeks of age

growth/size/body

postnatal growth retardation ( J:92940 )

• homozygotes display growth retardation but at a later age than seen in Hmx3/Hmx2^tm3Tlu homozygotes

hearing/vestibular/ear

abnormal semicircular canal morphology ( J:92940 )

• in mutants with weak penetrance, the semicircular canals are replaced by primordium diverticula

decreased lateral semicircular canal size ( J:92940 )

• in mutants with strong penetrance, the lateral semicircular canal is shortened and its ampulla reduced in size

absent posterior semicircular canal ( J:92940 )

• in mutants with strong penetrance, in place of the posterior semicircular canal is a large vesicle that connects the superior and lateral canals

abnormal crista ampullaris morphology ( J:92940 )

• the cristae ampullaris are absent

abnormal superior semicircular canal morphology ( J:92940 )

• in mutants with strong penetrance, the superior semicircular canal is fully developed however its ampulla is absent

abnormal utricular macula morphology ( J:92940 )

• the utricle forms, however the sensory epithelium fails to fully develop

absent endolymphatic duct ( J:92940 )

• in mutants with weak penetrance, the endolymphatic duct fails to form