Phenotypes Associated with This Genotype

Genotype
MGI:3789305

• Allelic Composition: En1^tm2Alj/En1⁺; En2^tm2Alj/En2^tm2Alj
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * Swiss Webster

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

mortality/aging

mortality/aging ( J:134516 )

N • mutants survive to adulthood

nervous system

abnormal tectum morphology ( J:134516 )

• severely truncated in one mutant and fused with folia I-V remnants

absent inferior colliculus ( J:134516 )

• at E18.5, absent in 1 mutant

decreased inferior colliculus size ( J:134516 )

• at E18.5, structure is absent (1 mutant) or only small amount of tissue is present

• partially truncated in adults

small tectum ( J:134516 )

• at E11.5, truncation of tectum is greater than in En2^tm2Alj homozygotes

abnormal cerebellum morphology ( J:134516 )

• in posterior hemisphere crusil and paramedian folia are fused; in one embryo, a partial fissure separating crusil and paramedian folia is observed at E18.5

• hemispheres are reduced in size compared to En2^tm2Alj adult homozygotes

abnormal cerebellar foliation ( J:134516 )

• delay in cerebellum foliation is more severe than in En2^tm2Alj homozygotes

• there are more foliation defects adults than in En2^tm2Alj adult homozygotes or or En1^tm2Alj / En2^tm2Alj adult double heterozygotes

• in most mutants, the five anterior-most folia (I-V) are replaced by a single fold

abnormal cerebellum anterior vermis morphology ( J:134516 )

• only 1 distinct folium is present in anterior vermis

abnormal cerebellum posterior vermis morphology ( J:134516 )

• substantial deletion of folium VIII is detected in adults

• in some mutants, folium VIII is absent or reduced in size and misaligned with folium IX; in one mutant folia I-V are almost completely absent and fused to profoundly truncated tectum

absent cerebellum vermis ( J:134516 )

• in one mutant at E18.5

absent cerebellum ( J:134516 )

• at E18.5, no cerebellum is observed in some mutants

small cerebellum ( J:134516 )

• reduced in overall size by half at E18.5 in some mutants

• size reduction in adults is greater than in En2^tm2Alj or En1^tm2Alj / En2^tm2Alj adult heterozygotes

• size reduction at E11.5 is greater than in En2^tm2Alj homozygotes