Phenotypes Associated with This Genotype

Genotype
MGI:2175846

• Allelic Composition: En1^{tm1(Otx2)Wrst}/En1⁺
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

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

nervous system

abnormal brain morphology ( J:57538 )

abnormal brain commissure morphology ( J:57538 )

• cerebellar commissure ectopically relocated to the surface of the posterior vermis

abnormal corpora quadrigemina morphology ( J:57538 )

increased inferior colliculus size ( J:57538 )

• enlarged and shifted posteriorly

• significantly heavier than controls

increased superior colliculus size ( J:57538 )

• enlarged and shifted posteriorly

abnormal cerebellum morphology ( J:57538 )

• fissures separating the vermis from the lateral hemispheres are missing

abnormal cerebellar lobule formation ( J:57538 )

• lobules are unfused in the midline

• longitudinal rather than transverse fissures are present

absent cerebellar lobules ( J:57538 )

• only posterior lobules (VIII, IX, X) are present

abnormal cerebellum vermis morphology ( J:57538 )

• reduced in size

• not fused in the midline

decreased anterior vermis size ( J:57538 )

• most of the anterior vermis is missing

behavior/neurological

impaired coordination ( J:57538 )

• poor performance in a horizontal thin rod test, improving slightly with practice

• poor performance in a stationary rotarod test, improving slightly with practice

• poor performance in a running rotarod test which does not improve with practice

abnormal locomotor coordination ( J:57538 )

ataxia ( J:57538 )

• gait ataxia

abnormal gait ( J:57538 )

• gait ataxia