Phenotypes associated with this allele

• Allele Symbol: En1^{tm1(Otx2)Wrst}
• Allele Name: targeted mutation 1, Wolfgang Wurst
• Allele ID: MGI:1889804
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	En1^tm1(Otx2)Wrst/En1^+	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)	MGI:2175846
ht2	En1^tm1(Otx2)Wrst/En1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1	MGI:3717686

Genotype
MGI:2175846

ht1

• 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

Genotype
MGI:3717686

ht2

• Allelic Composition: En1^{tm1(Otx2)Wrst}/En1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1

nervous system

abnormal neuron morphology ( J:88192 )

ectopic dopaminergic neuron ( J:88192 )

• dopaminergic domain expanded posteriorly at E12.5, E15.5, and in adults

abnormal serotonergic neuron morphology ( J:88192 )

• serotonergic neuron domain is shifted caudally and reduced at E12.5, E15.5, and adults

• primarily affects the dorsal raphe

homeostasis/metabolism

increased dopamine level ( J:88192 )

• significantly increased concentrations in the striatum

decreased serotonin level ( J:88192 )

• serotonin concentration in the striatum is significantly reduced

behavior/neurological

increased locomotor activity ( J:88192 )

• enhanced locomotion in adults