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Phenotypes Associated with This Genotype
Genotype
MGI:3575317
Allelic
Composition
Efna5tm1Ddmo/Efna5tm1Ddmo
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efna5tm1Ddmo mutation (1 available); any Efna5 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most null mice with craniofacial malformations die shortly after birth
• mice with less severe craniofacial defects survive longer

craniofacial
• null mice sometimes exhibit cleft nose and palate

nervous system
• 17% of null mice display neural tube defects caused by the failure of the neural folds to fuse in the dorsal midline
• failure to close the cranial neural tube
• although the neural folds become juxtaposed in the dorsal midline, they fail to fuse in some embryos and continued cell proliferation leads to eversion of the neural folds
• most null mice with craniofacial malformations lack a brain
• although arborization of nasal axons is normal, more anterior arborization is also seen
• some null mice display anencephaly

digestive/alimentary system
• null mice sometimes exhibit cleft nose and palate

embryo
• cells from the edges of the cranial neural folds showed a significant decrease in adhesion to Epha7 coated dishes compared to wild-type cells
• 17% of null mice display neural tube defects caused by the failure of the neural folds to fuse in the dorsal midline
• failure to close the cranial neural tube
• although the neural folds become juxtaposed in the dorsal midline, they fail to fuse in some embryos and continued cell proliferation leads to eversion of the neural folds

growth/size/body
• null mice sometimes exhibit cleft nose and palate

Mouse Models of Human Disease
OMIM ID Ref(s)
Anencephaly 206500 J:77779


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory