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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/Efna2+
Efna5tm1Ddmo/Efna5+
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ MGI:3689620
cx3
Efna2tm1Jgf/Efna2tm1Jgf
Efna5tm1Ddmo/Efna5tm1Ddmo
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ MGI:3689619
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 (28 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

growth/size/body
• null mice sometimes exhibit cleft nose and palate
• in females, absolute body weight is 20% lower than in wild-type females at P23
• however, no differences in body weight are observed at P60 or P120

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

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

reproductive system
N
• ovary to body weight ratio is normal at P23, P60, and P120
• after treatment with eCG followed by hCG, ovaries show a 1.5-fold increase in the number of oocytes aberrantly retained in the corpora lutea
• however, the total number of corpora lutea per mouse is normal
• after treatment with eCG followed by hCG, ovaries show a 2.6-fold increase in the number of follicles that have undergone cumulus expansion
• adult ovaries show a 4-fold increase in multioocyte follicles (MOFs)
• however, no difference in MOF number is detected at 3 weeks of age, suggesting follicle merging
• after gonadotropin stimulation, ovaries exhibit granulosa cell and follicular fluid emboli and fibrin thrombi in blood vessels
• after gonadotropin stimulation, ovaries exhibit interstitial hemorrhage near the site of nonapical follicle rupture
• after gonadotropin stimulation, ovarian mRNA levels of several luteinizing hormone (LH)-responsive genes are reduced, suggesting a partially attenuated response to LH
• after gonadotropin stimulation, ovaries exhibit nonapical follicle rupture resulting in interstitial and intraluminal cumulus oocyte complex (COC) release, as well as a 50% increase in the number of oocytes trapped within luteinized follicles
• however, no differences in serum estradiol and progesterone levels are observed in response to gonadotropin stimulation and both Lhcgr and Fshr mRNA levels are normal
• after treatment of P23-P25 females with equine chorionic gonadotropin (eCG) followed by human CG (hCG), average oocyte yield is 38% lower than for wild-type females
• adult females are subfertile
• in a continuous breeding study, females produced 40% smaller litters than wild-type females
• however, average number of days between litters is normal

cardiovascular system
• after gonadotropin stimulation, ovaries exhibit interstitial hemorrhage near the site of nonapical follicle rupture

endocrine/exocrine glands
• after treatment with eCG followed by hCG, ovaries show a 1.5-fold increase in the number of oocytes aberrantly retained in the corpora lutea
• however, the total number of corpora lutea per mouse is normal
• after treatment with eCG followed by hCG, ovaries show a 2.6-fold increase in the number of follicles that have undergone cumulus expansion
• adult ovaries show a 4-fold increase in multioocyte follicles (MOFs)
• however, no difference in MOF number is detected at 3 weeks of age, suggesting follicle merging
• after gonadotropin stimulation, ovaries exhibit granulosa cell and follicular fluid emboli and fibrin thrombi in blood vessels
• after gonadotropin stimulation, ovaries exhibit interstitial hemorrhage near the site of nonapical follicle rupture

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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
anencephaly DOID:0060668 OMIM:206500
J:77779




Genotype
MGI:3689620
cx2
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 (17 available)
Efna5tm1Ddmo mutation (1 available); any Efna5 mutation (28 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:3689619
cx3
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 (17 available)
Efna5tm1Ddmo mutation (1 available); any Efna5 mutation (28 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: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 (10 available)
Efna5tm1Ddmo mutation (1 available); any Efna5 mutation (28 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 (17 available)
Efna3tm1Rax mutation (0 available); any Efna3 mutation (10 available)
Efna5tm1Ddmo mutation (1 available); any Efna5 mutation (28 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
11/12/2024
MGI 6.24
The Jackson Laboratory