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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Efnb2tm1Henk
targeted mutation 1, Mark Henkemeyer
MGI:3051214
Summary 11 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Efnb2tm1Henk/Efnb2tm1Henk either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1) MGI:3051575
hm2
Efnb2tm1Henk/Efnb2tm1Henk involves: 129 * CD-1 MGI:3697652
ht3
Efnb2tm1Henk/Efnb2+ either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1) MGI:3051576
ht4
Efnb2tm1Henk/Efnb2+ involves: 129 * CD-1 MGI:3697650
ht5
Efnb2tm1Henk/Efnb2+ Not Specified MGI:5306610
ht6
Efnb2tm1Henk/Efnb2tm2.1Henk involves: 129 * CD-1 MGI:5085265
ht7
Efnb2tm1Henk/Efnb2tm3.1Henk involves: 129S1/Sv * 129X1/SvJ * CD-1 MGI:5085273
cn8
Efnb2tm1Henk/Efnb2tm1Henk
Tbx4tm1(cre)Tmj/Tbx4+
involves: 129S1/Sv * 129X1/SvJ MGI:5298191
cx9
Efnb2tm1Henk/Efnb2+
Ephb2tm2Paw/Ephb2tm2Paw
either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1) MGI:3051581
cx10
Efnb2tm1Henk/Efnb2+
Ephb2tm2Paw/Ephb2tm2Paw
Ephb3tm1Kln/Ephb3+
either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1) MGI:3051580
cx11
Efnb2tm1Henk/Efnb2+
Ephb2tm1Paw/Ephb2+
involves: 129S1/Sv * 129X1/SvJ * CD-1 MGI:3697651


Genotype
MGI:3051575
hm1
Allelic
Composition
Efnb2tm1Henk/Efnb2tm1Henk
Genetic
Background
either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2tm1Henk mutation (0 available); any Efnb2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• surprisingly, the remaning 50% of homozygotes survive embryonic development and are live born, but die within 24 hrs after birth from cardiac abnormalities (J:91492)
• ~50% of homozygotes exhibit peri-implantation lethality, possibly due to placentation defects

digestive/alimentary system
• the anal pit does not form a connection with the rectum
• the rectum is connected to the neck of the bladder in males or the vagina and neck of the bladder in females forming a single tube

renal/urinary system
• the rectum is connected to the neck of the bladder in males or the vagina and neck of the bladder in females forming a single tube
• the external urethra is untubularized
• males have severe hypospadia

reproductive system
• the rectum is connected to the neck of the bladder in males or the vagina and neck of the bladder in females forming a single tube
• females display a splayed clitoris

cardiovascular system
N
• at E9 until birth, homozygotes are grossly normal and exhibit none of the early vascular defects observed in Efnb2tm1.1Henk homozygotes
• homozygotes exhibit an overall normal chamber formation and vascular connections but show thickened cardiac valves
• at E18 and P0, homozygotes exhibit slightly hyperplastic mitral valve leaflets with ~30% more mesenchymal cells relative to wild-type mice
• in contrast, tricuspid valves show no significant changes in leaflet size
• at E18 and P0, all homozygotes display significantly enlarged aortic valves
• at E18 and P0, all homozygotes display hyperplastic (thickened) aortic valves, with nearly twice as many mesenchymal cells relative to wild-type mice
• at E18 and P0
• at E18 and P0, all homozygotes display significantly enlarged pulmonary valves
• at E18 and P0, all homozygotes display hyperplastic (thickened) pulmonary valves, with nearly twice as many mesenchymal cells relative to wild-type mice
• at E18 and P0

nervous system
• at E16, all homozygotes display defective pathfinding of axons that form a major forebrain commissure, the posterior tract of the anterior commissure
• at E16, formation of the posterior tract of the anterior commissure, a major forebrain commissure that connects the two temporal lobes of the cortex, is severely impaired

embryo
• at E11 a complete lack of septation of the cloaca is seen
• at E13 endoderm is not partitioned into the hindgut by epithelial cells

cellular
• at E16, all homozygotes display defective pathfinding of axons that form a major forebrain commissure, the posterior tract of the anterior commissure




Genotype
MGI:3697652
hm2
Allelic
Composition
Efnb2tm1Henk/Efnb2tm1Henk
Genetic
Background
involves: 129 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2tm1Henk mutation (0 available); any Efnb2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all die within hours of birth

hearing/vestibular/ear
• 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
• non-circling newborn homozygotes show a reduction in diameter of the common crus
• non-circling newborn homozygotes exhibit an enlarged and misshapen endolymphatic duct
• non-circling newborn homozygotes exhibit an enlarged and misshapen endolymphatic sac
• 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
• severe cleft palate in 26% of mice

digestive/alimentary system
• severe cleft palate in 26% of mice
• 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
• 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
• severe cleft palate in 26% of mice




Genotype
MGI:3051576
ht3
Allelic
Composition
Efnb2tm1Henk/Efnb2+
Genetic
Background
either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2tm1Henk mutation (0 available); any Efnb2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• the perineal area is reduced

renal/urinary system
• 28% of males have a ventrally flattened hypospadic penis
• hypospadia can be seen by E16

reproductive system
• the perineal area is reduced
• 28% of males have a ventrally flattened hypospadic penis
• some females display a splayed clitoris
• males with an abnormal penis are unable to copulate

embryo
• at E16 - E17 incomplete or reduced septation of the cloaca is seen with the perineum remaining open at the midline




Genotype
MGI:3697650
ht4
Allelic
Composition
Efnb2tm1Henk/Efnb2+
Genetic
Background
involves: 129 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2tm1Henk mutation (0 available); any Efnb2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• on a >75% CD-1 background (2 or more backcross generations), 20.5% of adult heterozygotes exhibit rapid head bobbing
• on a >75% CD-1 background (2 or more backcross generations), 20.5% of adult heterozygotes exhibit continuous, hyperactive circling
• Background Sensitivity: less than 1% of adult heterozygotes circle on a mixed 129 x C57BL/6 genetic background

hearing/vestibular/ear
• on a CD-1 background, adult heterozygotes show a >50% decrease in the mean cross-sectional area of posterior vertical canals relative to wild-type
• on a CD-1 background, adult heterozygotes show a >50% decrease in the mean cross-sectional area of anterior vertical canals relative to wild-type
• on a CD-1 background, endolymph-filled membranous ducts are severely reduced
• on a CD-1 background, reduced endolymph-filled lumens lead to a significant reduction in the flow of endolymph fluid through the semicircular canals
• [K+] is significantly reduced from a mean of 118 mM in wild-type mice to 61 mM in heterozygotes
• on a CD-1 background, transepithelial utricular potential (UP) of the vestibular endolymph is significantly reduced from a mean of 0.4 mV in wild-type mice to -5.7 mV in heterozygotes
• on a CD-1 background, heterozygotes fail to properly regulate the ionic homeostasis of the vestibular endolymph
• however, blood hematocrit, [K+], and osmolarity appear to be nomal

craniofacial
• severe cleft palate in 7% of mice

digestive/alimentary system
• severe cleft palate in 7% of mice

growth/size/body
• severe cleft palate in 7% of mice




Genotype
MGI:5306610
ht5
Allelic
Composition
Efnb2tm1Henk/Efnb2+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2tm1Henk mutation (0 available); any Efnb2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• some mice exhibit ventral-temporal (VT) retinal ganglion cell axon mapping defects compared with control mice




Genotype
MGI:5085265
ht6
Allelic
Composition
Efnb2tm1Henk/Efnb2tm2.1Henk
Genetic
Background
involves: 129 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2tm1Henk mutation (0 available); any Efnb2 mutation (29 available)
Efnb2tm2.1Henk mutation (0 available); any Efnb2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• seen in 71% of mice




Genotype
MGI:5085273
ht7
Allelic
Composition
Efnb2tm1Henk/Efnb2tm3.1Henk
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2tm1Henk mutation (0 available); any Efnb2 mutation (29 available)
Efnb2tm3.1Henk mutation (0 available); any Efnb2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• seen in 86% of mice

nervous system
• some mice exhibit dorsal and ventral-temporal (VT) retinal ganglion cell axon mapping defects compared with control mice




Genotype
MGI:5298191
cn8
Allelic
Composition
Efnb2tm1Henk/Efnb2tm1Henk
Tbx4tm1(cre)Tmj/Tbx4+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2tm1Henk mutation (0 available); any Efnb2 mutation (29 available)
Tbx4tm1(cre)Tmj mutation (0 available); any Tbx4 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• mice exhibit normal motor neuron specification and initial phases of motor axon extension




Genotype
MGI:3051581
cx9
Allelic
Composition
Efnb2tm1Henk/Efnb2+
Ephb2tm2Paw/Ephb2tm2Paw
Genetic
Background
either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2tm1Henk mutation (0 available); any Efnb2 mutation (29 available)
Ephb2tm2Paw mutation (0 available); any Ephb2 mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• an increased incidence of hypospadia compared to Efnb2tm1Henk heterozygotes is seen




Genotype
MGI:3051580
cx10
Allelic
Composition
Efnb2tm1Henk/Efnb2+
Ephb2tm2Paw/Ephb2tm2Paw
Ephb3tm1Kln/Ephb3+
Genetic
Background
either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2tm1Henk mutation (0 available); any Efnb2 mutation (29 available)
Ephb2tm2Paw mutation (0 available); any Ephb2 mutation (68 available)
Ephb3tm1Kln mutation (1 available); any Ephb3 mutation (52 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• an increased incidence of hypospadia compared to Efnb2tm1Henk heterozygotes is seen




Genotype
MGI:3697651
cx11
Allelic
Composition
Efnb2tm1Henk/Efnb2+
Ephb2tm1Paw/Ephb2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2tm1Henk mutation (0 available); any Efnb2 mutation (29 available)
Ephb2tm1Paw mutation (1 available); any Ephb2 mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• on a ~94% CD-1 background (4 backcross generations), 69% of adult double heterozygotes display a hyperactive circling locomotion versus 13% of single Efnb2tm1Henk heterozygotes (>5-fold increase)





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last database update
10/22/2024
MGI 6.24
The Jackson Laboratory