Phenotypes Associated with This Genotype

Genotype
MGI:3829202

• Allelic Composition: Efnb2^tm2Sor/Efnb2^tm2Sor
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:143845 )

• die at about E10.5

embryo

increased cranial neural crest cell apoptosis ( J:143845 )

• increase in cell death accompanies reduction in neural crest cell numbers

abnormal cranial neural crest cell migration ( J:143845 )

• the streams of cells migrating towards the first and second branchial arches are reduced in size

abnormal trunk neural crest cell migration ( J:143845 )

• disruption of trunk migration with scattered migration pattern and loss of normal segmented migration

• in the trunk neural crest cells invade the posterior part of somites

small first pharyngeal arch ( J:143845 )

• often smaller and hypoplastic

• in 12 of 21 embryos there is a severe reduction in the size of the first branchial arch

decreased cranial neural crest cell number ( J:143845 )

• selective reduction in cranial neural crest cells

abnormal somite development ( J:143845 )

• impaired differentiation

abnormal rostral-caudal patterning of the somites ( J:143845 )

• GFP expression indicates that cells normally confined to the caudal part of the somite are present in the rostral part

• expression analysis suggests a defect in somite patterning

abnormal dorsal-ventral polarity of the somites ( J:143845 )

• expression analysis suggests a defect in somite patterning

nervous system

decreased cranial neural crest cell number ( J:143845 )

• selective reduction in cranial neural crest cells

small trigeminal ganglion ( J:143845 )

craniofacial

small first pharyngeal arch ( J:143845 )

• often smaller and hypoplastic

• in 12 of 21 embryos there is a severe reduction in the size of the first branchial arch

cellular

increased cranial neural crest cell apoptosis ( J:143845 )

• increase in cell death accompanies reduction in neural crest cell numbers

abnormal cranial neural crest cell migration ( J:143845 )

• the streams of cells migrating towards the first and second branchial arches are reduced in size

abnormal trunk neural crest cell migration ( J:143845 )

• disruption of trunk migration with scattered migration pattern and loss of normal segmented migration

• in the trunk neural crest cells invade the posterior part of somites