Phenotypes associated with this allele

• Allele Symbol: Vasp^tm1Ref
• Allele Name: targeted mutation 1, Reinhard Fassler
• Allele ID: MGI:3764987
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vasp^tm1Ref/Vasp^tm1Ref	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3764999
cn2	Enah^tm2.1Fbg/Enah^tm2.1Fbg Vasp^tm1Ref/Vasp^tm1Ref	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ	MGI:5449745
cx3	Enah^tm1Fbg/Enah^tm1Fbg Evl^tm1Fbg/Evl^tm1Fbg Vasp^tm1Ref/Vasp^tm1Ref	involves: 129 * BALB/c * C57BL/6	MGI:3764997
cx4	Enah^tm1Fbg/Enah^+ Evl^tm1Fbg/Evl^tm1Fbg Vasp^tm1Ref/Vasp^tm1Ref	involves: 129 * BALB/c * C57BL/6	MGI:3764998

Genotype
MGI:3764999

hm1

• Allelic Composition: Vasp^tm1Ref/Vasp^tm1Ref
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

hematopoietic system

hematopoietic system phenotype ( J:51905 )

N • platelet number and bleed time, and intestinal and vascular smooth muscle are normal

abnormal platelet physiology ( J:51905 )

• activated platelets bind more fibrinogen than wild-type platelets and pretreatment with 100 uM 8-pCPT-cGMP or 110 uM Sp-5,6-DCL-cBIMPS does not reduce fibrinogen binding as it does in wild-type mice

increased platelet aggregation ( J:51905 )

• collagen-induced aggregatory response is accelerated such that platelets reach 50% of maximum aggregatory response to 5 ug/ml collagen in 89+/-4 s compared to 106+/-4 s for wild-type mice

• inhibition of aggregation induced by 10, 20 or 100 uM 8-pCPT-cGMP is reduced (percent inhibition at 50 uM, 21.6% compared to 77.8% in wild-type platelets)

• inhibition of aggregation induced by 6 and 10 uM Sp-5,6-DCL-cBIMPS is reduced (percent inhibition at 6 uM, 30.6% compared to 73.6% in wild-type platelets)

homeostasis/metabolism

abnormal platelet physiology ( J:51905 )

• activated platelets bind more fibrinogen than wild-type platelets and pretreatment with 100 uM 8-pCPT-cGMP or 110 uM Sp-5,6-DCL-cBIMPS does not reduce fibrinogen binding as it does in wild-type mice

increased platelet aggregation ( J:51905 )

• collagen-induced aggregatory response is accelerated such that platelets reach 50% of maximum aggregatory response to 5 ug/ml collagen in 89+/-4 s compared to 106+/-4 s for wild-type mice

• inhibition of aggregation induced by 10, 20 or 100 uM 8-pCPT-cGMP is reduced (percent inhibition at 50 uM, 21.6% compared to 77.8% in wild-type platelets)

• inhibition of aggregation induced by 6 and 10 uM Sp-5,6-DCL-cBIMPS is reduced (percent inhibition at 6 uM, 30.6% compared to 73.6% in wild-type platelets)

Genotype
MGI:5449745

cn2

• Allelic Composition: Enah^tm2.1Fbg/Enah^tm2.1Fbg; Vasp^tm1Ref/Vasp^tm1Ref
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

cellular

abnormal cell adhesion ( J:190748 )

• after infection with cre-expressing adenovirus, cultured fibroblasts fail to exhibit localization of integrin alpha 5 in central fibrillar adhesion-like adhesions unlike in control cells

Genotype
MGI:3764997

cx3

• Allelic Composition: Enah^tm1Fbg/Enah^tm1Fbg; Evl^tm1Fbg/Evl^tm1Fbg; Vasp^tm1Ref/Vasp^tm1Ref
• Genetic Background: involves: 129 * BALB/c * C57BL/6

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:127447 )

• mice die between E16.5 and P0 with a number of defects including intraamniotic hemorrhage, hydrops fetalis and frequent exencephaly

nervous system

abnormal radial glial cell morphology ( J:127447 )

• aberrant extensions of radial processes into ectopic growths are observed

abnormal cortical intermediate zone morphology ( J:127447 )

• mice lack uDTI staining in the intermediate zone (IZ) indicating an absence of organized axon tracts

• the IZ is thinner than in wild-type mice

• IZ cortices are nearly devoid of neurofilament protein + axons Tau-1 staining is reduced

abnormal cortical plate morphology ( J:127447 )

• the cortices show cortical neurons pouring through gaps in the pial membrane and spreading tangentially within the subarachnoid space compared to the well organized cortical plate and intact pial membrane in wild-type mice

• however, laminin staining surrounding ectopias is normal and in regions without ectopias cortical plate architecture is preserved

hydrocephaly ( J:127447 )

• mice display hydrocephalus ex vacuo

enlarged brain ventricles ( J:127447 )

• at E18.5, mice display enlarged ventricle size

abnormal brain white matter morphology ( J:127447 )

• all cortical fiber tracts are missing from the brain, including all major forebrain commissures and the internal capsule

absent brain internal capsule ( J:127447 )

abnormal brain pia mater morphology ( J:127447 )

• gaps in the pial membrane allow spread of cortical neurons into the subarachnoid space

abnormal subarachnoid space morphology ( J:127447 )

• contains ectopic cortical neurons

exencephaly ( J:127447 )

• between E16.5 and P0, mice frequently display exenchephaly

abnormal neurite morphology ( J:127447 )

• after 48 hours in culture, 74% of neuritis are at stage 2 of neuritogenesis with only 2% at stage 3 compared to 10% of wild-type cells at stage 1 and 69% at stage 3

• however, axonal polarization is normal

ectopic cortical neuron ( J:127447 )

• at E18.5, mice exhibit cortical ectopias

homeostasis/metabolism

hydrops fetalis ( J:127447 )

• between E16.5 and P0

cardiovascular system

hemorrhage ( J:127447 )

• between E16.5 and P0 mice exhibit intraaminotic hemorrhage

cellular

abnormal radial glial cell morphology ( J:127447 )

• aberrant extensions of radial processes into ectopic growths are observed

Genotype
MGI:3764998

cx4

• Allelic Composition: Enah^tm1Fbg/Enah⁺; Evl^tm1Fbg/Evl^tm1Fbg; Vasp^tm1Ref/Vasp^tm1Ref
• Genetic Background: involves: 129 * BALB/c * C57BL/6

mortality/aging

lethality during fetal growth through weaning, incomplete penetrance ( J:127447 )

• while mice are present at E16.5, fewer than expected are recovered at P10