Phenotypes Associated with This Genotype

Genotype
MGI:3697652

• Allelic Composition: Efnb2^tm1Henk/Efnb2^tm1Henk
• Genetic Background: involves: 129 * CD-1

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality, complete penetrance ( J:173636 )

• all die within hours of birth

hearing/vestibular/ear

abnormal semicircular canal morphology ( J:116671 )

• non-circling newborn homozygotes show a reduction in diameter of lumens of the semicircular canals

• histology confirms near absence of endolymph-filled lumens in semicircular canals

abnormal common crus morphology ( J:116671 )

• non-circling newborn homozygotes show a reduction in diameter of the common crus

dilated endolymphatic duct ( J:116671 )

• non-circling newborn homozygotes exhibit an enlarged and misshapen endolymphatic duct

dilated endolymphatic sac ( J:116671 )

• non-circling newborn homozygotes exhibit an enlarged and misshapen endolymphatic sac

decreased endolymph production ( J:116671 )

• even on a 129 x CD-1 mixed non-circling background, newborn homozygotes display a severe reduction of endolymph fluid production relative to wild-type newborns

craniofacial

cleft palate ( J:173636 )

• severe cleft palate in 26% of mice

digestive/alimentary system

cleft palate ( J:173636 )

• severe cleft palate in 26% of mice

tracheoesophageal fistula ( J:173636 )

• common, unseptated foregut at E18 indicating defects in tracheoesophageal septation

• septation defect is variable from moderate, in which a septum is visible but had fails to extend to the rostral apex, to severe, in which no septum is detected

• septation defects are detectable at E10.5 and E14.5

respiratory system

tracheoesophageal fistula ( J:173636 )

• common, unseptated foregut at E18 indicating defects in tracheoesophageal septation

• septation defect is variable from moderate, in which a septum is visible but had fails to extend to the rostral apex, to severe, in which no septum is detected

• septation defects are detectable at E10.5 and E14.5

growth/size/body

cleft palate ( J:173636 )

• severe cleft palate in 26% of mice