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

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

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/body

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