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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Efnb1tm1.1Sor
targeted mutation 1.1, Philippe Soriano
MGI:3039290
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Efnb1tm1.1Sor/Efnb1tm1.1Sor involves: 129S4/SvJaeSor MGI:3511848
ht2
 		Efnb1tm1.1Sor/Efnb1+ involves: 129S4/SvJaeSor MGI:3511851
ht3
 		Efnb1tm1.1Sor/Efnb1+ involves: 129S4/SvJaeSor * C57BL/6 MGI:3717637
cx4
 		Efnb1tm1.1Sor/Y
Efnb2tm2Sor/Efnb2tm2Sor 		involves: 129S4/SvJaeSor * C57BL/6 MGI:3717639
cx5
 		Efnb1tm1.1Sor/Efnb1+
Efnb2tm2Sor/Efnb2tm2Sor 		involves: 129S4/SvJaeSor * C57BL/6 MGI:3717638
cx6
 		Efnb1tm1.1Sor/Efnb1+
Efnb2tm2Sor/Efnb2+ 		involves: 129S4/SvJaeSor * C57BL/6J MGI:3829204
cx7
 		Efnb1tm1.1Sor/Y
Efnb2tm2Sor/Efnb2+ 		involves: 129S4/SvJaeSor * C57BL/6J MGI:3829203
ot8
 		Efnb1tm1.1Sor/Y involves: 129S4/SvJaeSor MGI:3850144


Genotype
MGI:3511848
hm1
Allelic
Composition		 Efnb1tm1.1Sor/Efnb1tm1.1Sor
Genetic
Background		 involves: 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1tm1.1Sor mutation (0 available); any Efnb1 mutation (15 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
absent palatal shelf ( J:89008 )
• as early as E13.5
cleft secondary palate ( J:89008 , J:150043 )
• in 30% of mice (J:89008)
• mice are often born with a cleft secondary palate (J:150043)

hearing/vestibular/ear
abnormal tympanic ring morphology ( J:89008 , J:150043 )
• bilaterally defective (J:89008)
• in some mice (J:150043)

skeleton
abnormal rib morphology ( J:150043 )
• mice are often born with rib pairing defects

nervous system
abnormal corpus callosum morphology ( J:150043 )
• the corpus callosum tract axons project ventrally along the ipsilateral septum unlike in wild-type mice
absent corpus callosum ( J:150043 )
• Background Sensitivity: all mice lack a corpus callosum unlike when mice are on a mixed 129S4 background where corpus callosum formation is normal
abnormal cranial ganglia morphology ( J:89008 )
• cranial ganglia exhibits defects in fasciculation and branching

digestive/alimentary system
absent palatal shelf ( J:89008 )
• as early as E13.5
cleft secondary palate ( J:89008 , J:150043 )
• in 30% of mice (J:89008)
• mice are often born with a cleft secondary palate (J:150043)

embryo
abnormal cardiac neural crest cell migration ( J:89008 )
• cardiac neural crest cells (NCCs) exhibit a wandering behavior compared to wild-type cells
• NCCs invade tissues normally devoid of crest cells
abnormal cranial neural crest cell migration ( J:89008 )
• cranial NCCs exhibit a wandering behavior compared to wild-type cells
• NCCs invade tissues normally devoid of crest cells

cellular
abnormal cardiac neural crest cell migration ( J:89008 )
• cardiac neural crest cells (NCCs) exhibit a wandering behavior compared to wild-type cells
• NCCs invade tissues normally devoid of crest cells
abnormal cranial neural crest cell migration ( J:89008 )
• cranial NCCs exhibit a wandering behavior compared to wild-type cells
• NCCs invade tissues normally devoid of crest cells

growth/size/body
absent palatal shelf ( J:89008 )
• as early as E13.5
cleft secondary palate ( J:89008 , J:150043 )
• in 30% of mice (J:89008)
• mice are often born with a cleft secondary palate (J:150043)




Genotype
MGI:3511851
ht2
Allelic
Composition		 Efnb1tm1.1Sor/Efnb1+
Genetic
Background		 involves: 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1tm1.1Sor mutation (0 available); any Efnb1 mutation (15 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial

limbs/digits/tail

nervous system
abnormal axon morphology ( J:176056 )
• some mice exhibit ventral-temporal (VT) retinal ganglion cell axon mapping defects compared with control mice

skeleton




Genotype
MGI:3717637
ht3
Allelic
Composition		 Efnb1tm1.1Sor/Efnb1+
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1tm1.1Sor mutation (0 available); any Efnb1 mutation (15 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
frontal bone foramen ( J:115952 )
• at 16.5, osteroblastic differentiation is delayed

skeleton
frontal bone foramen ( J:115952 )
• at 16.5, osteroblastic differentiation is delayed

nervous system
nervous system phenotype ( J:150043 )
N
• Background Sensitivity: mice exhibit normal corpus callosum development unlike on a 129S4 background

integument
abnormal vibrissa morphology ( J:115952 )
• abnormal alignment of the vibrissae buds

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
craniofrontonasal syndrome DOID:14737 OMIM:304110
 J:115952




Genotype
MGI:3717639
cx4
Allelic
Composition		 Efnb1tm1.1Sor/Y
Efnb2tm2Sor/Efnb2tm2Sor
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1tm1.1Sor mutation (0 available); any Efnb1 mutation (15 available)
Efnb2tm2Sor mutation (1 available); any Efnb2 mutation (29 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
craniofacial phenotype ( J:115952 )
N
• calvaria development is normal




Genotype
MGI:3717638
cx5
Allelic
Composition		 Efnb1tm1.1Sor/Efnb1+
Efnb2tm2Sor/Efnb2tm2Sor
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1tm1.1Sor mutation (0 available); any Efnb1 mutation (15 available)
Efnb2tm2Sor mutation (1 available); any Efnb2 mutation (29 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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:3829204
cx6
Allelic
Composition		 Efnb1tm1.1Sor/Efnb1+
Efnb2tm2Sor/Efnb2+
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1tm1.1Sor mutation (0 available); any Efnb1 mutation (15 available)
Efnb2tm2Sor mutation (1 available); any Efnb2 mutation (29 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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

endocrine/exocrine glands
small salivary gland ( J:143845 )
• about 40% smaller than in wild type controls

skeleton




Genotype
MGI:3829203
cx7
Allelic
Composition		 Efnb1tm1.1Sor/Y
Efnb2tm2Sor/Efnb2+
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1tm1.1Sor mutation (0 available); any Efnb1 mutation (15 available)
Efnb2tm2Sor mutation (1 available); any Efnb2 mutation (29 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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

endocrine/exocrine glands
small salivary gland ( J:143845 )
• about 40% smaller than in wild type controls

skeleton




Genotype
MGI:3850144
ot8
Allelic
Composition		 Efnb1tm1.1Sor/Y
Genetic
Background		 involves: 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1tm1.1Sor mutation (0 available); any Efnb1 mutation (15 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
skeleton
abnormal rib morphology ( J:150043 )
• mice are often born with rib pairing defects

nervous system
abnormal corpus callosum morphology ( J:150043 )
• the corpus callosum tract axons project ventrally along the ipsilateral septum unlike in wild-type mice
absent corpus callosum ( J:150043 )
• Background Sensitivity: all mice lack a corpus callosum unlike when mice are on a mixed 129S4 background where corpus callosum formation is normal
abnormal axon morphology ( J:176056 )
• some mice exhibit ventral-temporal (VT) retinal ganglion cell axon mapping defects compared with control mice

hearing/vestibular/ear

craniofacial
cleft secondary palate ( J:150043 )
• mice are often born with a cleft secondary palate

digestive/alimentary system
cleft secondary palate ( J:150043 )
• mice are often born with a cleft secondary palate

growth/size/body
cleft secondary palate ( J:150043 )
• mice are often born with a cleft secondary palate




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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory