Mouse Genome Informatics
hm1
    Efna5tm1Ddmo/Efna5tm1Ddmo
involves: 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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

embryogenesis
• 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

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


Mouse Genome Informatics
cx2
    Efna2tm1Jgf/Efna2tm1Jgf
Efna5tm1Ddmo/Efna5tm1Ddmo

involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• ectopic arborization of both retinal temporal axons and nasal axons are more sever than in singly homozygous mice
• usually multiple ectopic arborizations are seen
• normal arborization sometimes lost


Mouse Genome Informatics
cx3
    Efna2tm1Jgf/Efna2+
Efna5tm1Ddmo/Efna5+

involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• single ectopic arborizations of temporal axons from the retina but normal nasal arborizations


Mouse Genome Informatics
cx4
    Efna3tm1Rax/Efna3tm1Rax
Efna5tm1Ddmo/Efna5tm1Ddmo

involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• diminished survival to weaning but sufficient survivors for study

behavior/neurological
• females fail to nurse young (J:101720)

growth/size

nervous system
• SR1 glomeruli shifted posteriorly by about 20% of the length of the bulb and slightly ventrally on the medial aspect
• P2 glomeruli shifted somewhat posteriorly and shifted dorsally on the medial aspect


Mouse Genome Informatics
cx5
    Efna2tm1Jgf/Efna2tm1Jgf
Efna3tm1Rax/Efna3tm1Rax
Efna5tm1Ddmo/Efna5tm1Ddmo

involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• localization of innervations from the optic nerve to the dorsal lateral geniculate body are defective