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Symbol
Name
ID
Efnb1
ephrin B1
MGI:102708
Phenotype annotations related to skeleton
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Frontal bossing
Brachycephaly
Craniosynostosis
Coronal craniosynostosis
Plagiocephaly
Microcephaly
Short neck
Clinodactyly of the 5th finger
Camptodactyly of finger
Hand polydactyly
Broad hallux phalanx
Broad hallux
Sandal gap
Toe syndactyly
Brachydactyly
Finger syndactyly
3-4 finger syndactyly
Hemihypotrophy of lower limb
Axillary pterygium
Joint hypermobility
Congenital pseudoarthrosis of the clavicle
Down-sloping shoulders
Abnormal clavicle morphology
Abnormal rib cage morphology
Sprengel anomaly
Pectus excavatum
Scoliosis
Disease(s) Associated with EFNB1
craniofrontonasal syndrome

Mouse Phenotypes
skeleton phenotype
decreased cranium height
abnormal frontal bone morphology
frontal bone foramen
abnormal carpal bone morphology
fused carpal bones
abnormal sternebra morphology
sternebra fusion
asymmetric sternocostal joints
short sternum
abnormal axial skeleton morphology
asymmetric rib joints
abnormal rib morphology
abnormal cartilage development
abnormal perichondrium morphology
abnormal bone ossification
Availability Mouse Genotype
Efnb1tm1.1Rha/Efnb1tm1.1Rha
Efnb1tm1.1Sor/Efnb1tm1.1Sor
Efnb1tm2.2Sor/Efnb1tm2.2Sor *
Efnb1tm3.2Sor/Efnb1tm3.2Sor *
Efnb1tm4.2Sor/Efnb1tm4.2Sor *
Efnb1tm1.1Sor/Efnb1+
Efnb1tm1Rha/Efnb1+
Efnb1tm2.2Sor/Efnb1+ *
Efnb1tm3.2Sor/Efnb1+ *
Efnb1tm4.2Sor/Efnb1+ *
Efnb1tm1.1Sor/Y
Efnb1tm2.2Sor/Y *
Efnb1tm3.2Sor/Y *
Efnb1tm4.2Sor/Y *
Efnb1tm1Rha/Efnb1+
Tg(Pgk1-cre)1Lni/?  (conditional)
Efnb1tm1Sor/Efnb1+
Meox2tm1(cre)Sor/Meox2+  (conditional)
Efnb1tm1Rha/Y
Tg(Pgk1-cre)1Lni/?  (conditional)

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