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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Efna5tm1Ddmo
targeted mutation 1, Dennis D M O'Leary
MGI:2182573
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Efna5tm1Ddmo/Efna5tm1Ddmo involves: 129S1/Sv * 129X1/SvJ MGI:3575317
cx2
Efna2tm1Jgf/Efna2tm1Jgf
Efna5tm1Ddmo/Efna5tm1Ddmo
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ MGI:3689619
cx3
Efna2tm1Jgf/Efna2+
Efna5tm1Ddmo/Efna5+
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ MGI:3689620
cx4
Efna3tm1Rax/Efna3tm1Rax
Efna5tm1Ddmo/Efna5tm1Ddmo
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 MGI:3605232
cx5
Efna2tm1Jgf/Efna2tm1Jgf
Efna3tm1Rax/Efna3tm1Rax
Efna5tm1Ddmo/Efna5tm1Ddmo
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 MGI:3605233


Genotype
MGI:3575317
hm1
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 (15 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




Genotype
MGI:3689619
cx2
Allelic
Composition
Efna2tm1Jgf/Efna2tm1Jgf
Efna5tm1Ddmo/Efna5tm1Ddmo
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efna2tm1Jgf mutation (1 available); any Efna2 mutation (10 available)
Efna5tm1Ddmo mutation (1 available); any Efna5 mutation (15 available)
phenotype observed in females
phenotype observed in males
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




Genotype
MGI:3689620
cx3
Allelic
Composition
Efna2tm1Jgf/Efna2+
Efna5tm1Ddmo/Efna5+
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efna2tm1Jgf mutation (1 available); any Efna2 mutation (10 available)
Efna5tm1Ddmo mutation (1 available); any Efna5 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• single ectopic arborizations of temporal axons from the retina but normal nasal arborizations




Genotype
MGI:3605232
cx4
Allelic
Composition
Efna3tm1Rax/Efna3tm1Rax
Efna5tm1Ddmo/Efna5tm1Ddmo
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efna3tm1Rax mutation (0 available); any Efna3 mutation (4 available)
Efna5tm1Ddmo mutation (1 available); any Efna5 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• diminished survival to weaning but sufficient survivors for study

behavior/neurological
• females fail to nurse young

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




Genotype
MGI:3605233
cx5
Allelic
Composition
Efna2tm1Jgf/Efna2tm1Jgf
Efna3tm1Rax/Efna3tm1Rax
Efna5tm1Ddmo/Efna5tm1Ddmo
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efna2tm1Jgf mutation (1 available); any Efna2 mutation (10 available)
Efna3tm1Rax mutation (0 available); any Efna3 mutation (4 available)
Efna5tm1Ddmo mutation (1 available); any Efna5 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• localization of innervations from the optic nerve to the dorsal lateral geniculate body are defective





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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory