Phenotypes associated with this allele

• Allele Symbol: En1^{tm1(PDGFB)Nist}
• Allele Name: targeted mutation 1, Monica Nister
• Allele ID: MGI:3047856
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	En1^tm1(PDGFB)Nist/En1^tm1(PDGFB)Nist	involves: 129/Sv * C57BL/6	MGI:3050207
ht2	En1^tm1(PDGFB)Nist/En1^+	involves: 129/Sv * C57BL/6	MGI:3050208

Genotype
MGI:3050207

hm1

• Allelic Composition: En1^{tm1(PDGFB)Nist}/En1^{tm1(PDGFB)Nist}
• Genetic Background: involves: 129/Sv * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:90898 )

• homozygotes die at birth

Genotype
MGI:3050208

ht2

• Allelic Composition: En1^{tm1(PDGFB)Nist}/En1⁺
• Genetic Background: involves: 129/Sv * C57BL/6

behavior/neurological

behavior/neurological phenotype ( J:90898 )

N • no behavioral abnormalities are seen

cardiovascular system

abnormal brain vasculature morphology ( J:90898 )

• the number of small vessels is increased about 40% around the fusion area of the cerebellum

cellular

abnormal cell migration ( J:90898 )

• meningeal cells from the rostral part of the cerebellum appear to migrate into the cerebellar tissue

nervous system

abnormal brain vasculature morphology ( J:90898 )

• the number of small vessels is increased about 40% around the fusion area of the cerebellum

abnormal cerebellum development ( J:90898 )

• at E16 - E17 midline fusion of the cerebellar primordium is abnormal with cells from the posterior cerebellar surface invaginated and establishing centrally located structures