Phenotypes associated with this allele

• Allele Symbol: Efnb2^tm2Sor
• Allele Name: targeted mutation 2, Philippe Soriano
• Allele ID: MGI:3526818
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Efnb2^tm2Sor/Efnb2^tm2Sor	involves: 129S4/SvJaeSor	MGI:3795154
hm2	Efnb2^tm2Sor/Efnb2^tm2Sor	involves: 129S4/SvJaeSor * C57BL/6J	MGI:3829202
cx3	Efnb1^tm1.1Sor/Efnb1^+ Efnb2^tm2Sor/Efnb2^tm2Sor	involves: 129S4/SvJaeSor * C57BL/6	MGI:3717638
cx4	Efnb1^tm1.1Sor/Y Efnb2^tm2Sor/Efnb2^tm2Sor	involves: 129S4/SvJaeSor * C57BL/6	MGI:3717639
cx5	Efnb1^tm1.1Sor/Efnb1^+ Efnb2^tm2Sor/Efnb2^+	involves: 129S4/SvJaeSor * C57BL/6J	MGI:3829204
cx6	Efnb1^tm1.1Sor/Y Efnb2^tm2Sor/Efnb2^+	involves: 129S4/SvJaeSor * C57BL/6J	MGI:3829203

Genotype
MGI:3795154

hm1

• Allelic Composition: Efnb2^tm2Sor/Efnb2^tm2Sor
• Genetic Background: involves: 129S4/SvJaeSor

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

mortality/aging

embryonic lethality, complete penetrance ( J:115952 )

• early embryonic lethality occurs in all homozygotes

Genotype
MGI:3829202

hm2

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

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

Genotype
MGI:3717638

cx3

• Allelic Composition: Efnb1^tm1.1Sor/Efnb1⁺; Efnb2^tm2Sor/Efnb2^tm2Sor
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6

craniofacial

abnormal coronal suture morphology ( J:115952 )

♀ • at E15.5, bone fronts are unable to extend towards each other at the coronal suture

♀ • at E18.5, the frontal bone never overlaps at the coronal suture

abnormal frontal bone morphology ( J:115952 )

♀ • at E15.5, bone fronts are unable to extend towards each other at the coronal suture

♀ • at 16.5, osteroblastic differentiation is delayed

♀ • at E18.5, the frontal bone never overlaps at the coronal suture

skeleton

abnormal coronal suture morphology ( J:115952 )

♀ • at E15.5, bone fronts are unable to extend towards each other at the coronal suture

♀ • at E18.5, the frontal bone never overlaps at the coronal suture

abnormal frontal bone morphology ( J:115952 )

♀ • at E15.5, bone fronts are unable to extend towards each other at the coronal suture

♀ • at 16.5, osteroblastic differentiation is delayed

♀ • at E18.5, the frontal bone never overlaps at the coronal suture

Genotype
MGI:3717639

cx4

• Allelic Composition: Efnb1^tm1.1Sor/Y; Efnb2^tm2Sor/Efnb2^tm2Sor
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6

craniofacial

craniofacial phenotype ( J:115952 )

♂N • calvaria development is normal

Genotype
MGI:3829204

cx5

• Allelic Composition: Efnb1^tm1.1Sor/Efnb1⁺; Efnb2^tm2Sor/Efnb2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

digestive/alimentary system

small salivary gland ( J:143845 )

♀ • about 40% smaller than in wild type controls

vision/eye

failure of eyelid fusion ( J:143845 )

♀ • at E18.5 eyelids are not fused

respiratory system

abnormal tracheal cartilage morphology ( J:143845 )

♀

endocrine/exocrine glands

small salivary gland ( J:143845 )

♀ • about 40% smaller than in wild type controls

skeleton

abnormal tracheal cartilage morphology ( J:143845 )

♀

Genotype
MGI:3829203

cx6

• Allelic Composition: Efnb1^tm1.1Sor/Y; Efnb2^tm2Sor/Efnb2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

digestive/alimentary system

small salivary gland ( J:143845 )

♂ • about 40% smaller than in wild type controls

vision/eye

failure of eyelid fusion ( J:143845 )

♂ • at E18.5 eyelids are not fused

respiratory system

abnormal tracheal cartilage morphology ( J:143845 )

♂

endocrine/exocrine glands

small salivary gland ( J:143845 )

♂ • about 40% smaller than in wild type controls

skeleton

abnormal tracheal cartilage morphology ( J:143845 )

♂