About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory