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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 (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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory