All Phenotypes Efnb2<tm1Henk> MGI Mouse

About Help FAQ

Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Efnb2^tm1Henk
targeted mutation 1, Mark Henkemeyer
MGI:3051214

Summary

11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Efnb2^tm1Henk/Efnb2^tm1Henk	either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)	MGI:3051575
hm2	Efnb2^tm1Henk/Efnb2^tm1Henk	involves: 129 * CD-1	MGI:3697652
ht3	Efnb2^tm1Henk/Efnb2⁺	either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)	MGI:3051576
ht4	Efnb2^tm1Henk/Efnb2⁺	involves: 129 * CD-1	MGI:3697650
ht5	Efnb2^tm1Henk/Efnb2⁺	Not Specified	MGI:5306610
ht6	Efnb2^tm1Henk/Efnb2^tm2.1Henk	involves: 129 * CD-1	MGI:5085265
ht7	Efnb2^tm1Henk/Efnb2^tm3.1Henk	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:5085273
cn8	Efnb2^tm1Henk/Efnb2^tm1Henk Tbx4^tm1(cre)Tmj/Tbx4⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:5298191
cx9	Efnb2^tm1Henk/Efnb2⁺ Ephb2^tm2Paw/Ephb2^tm2Paw	either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)	MGI:3051581
cx10	Efnb2^tm1Henk/Efnb2⁺ Ephb2^tm2Paw/Ephb2^tm2Paw Ephb3^tm1Kln/Ephb3⁺	either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)	MGI:3051580
cx11	Efnb2^tm1Henk/Efnb2⁺ Ephb2^tm1Paw/Ephb2⁺	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:3697651

Allelic Composition	Efnb2^tm1Henk/Efnb2^tm1Henk
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:
Efnb2^tm1Henk mutation (0 available); any Efnb2 mutation (28 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:91491 , J:91492 )

• 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)

embryonic lethality between implantation and placentation, incomplete penetrance ( J:91492 )

• ~50% of homozygotes exhibit peri-implantation lethality, possibly due to placentation defects

digestive/alimentary system

anal atresia ( J:91491 )

• the anal pit does not form a connection with the rectum

persistent cloaca ( J:91491 )

• 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

persistent cloaca ( J:91491 )

• 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

abnormal urethra morphology ( J:91491 )

• the external urethra is untubularized

hypospadia ( J:91491 )

• males have severe hypospadia

reproductive system

persistent cloaca ( J:91491 )

• 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

splayed clitoris ( J:91491 )

• females display a splayed clitoris

cardiovascular system

cardiovascular system phenotype ( J:91492 )

N	• at E9 until birth, homozygotes are grossly normal and exhibit none of the early vascular defects observed in Efnb2^tm1.1Henk homozygotes

abnormal heart valve morphology ( J:91492 )

• homozygotes exhibit an overall normal chamber formation and vascular connections but show thickened cardiac valves

thick mitral valve cusps ( J:91492 )

• 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

enlarged aortic valve ( J:91492 )

• at E18 and P0, all homozygotes display significantly enlarged aortic valves

aortic valve hyperplasia ( J:91492 )

• at E18 and P0, all homozygotes display hyperplastic (thickened) aortic valves, with nearly twice as many mesenchymal cells relative to wild-type mice

thick aortic valve ( J:91492 )

• at E18 and P0

enlarged pulmonary valve ( J:91492 )

• at E18 and P0, all homozygotes display significantly enlarged pulmonary valves

pulmonary valve hyperplasia ( J:91492 )

• at E18 and P0, all homozygotes display hyperplastic (thickened) pulmonary valves, with nearly twice as many mesenchymal cells relative to wild-type mice

thick pulmonary valve ( J:91492 )

• at E18 and P0

nervous system

abnormal axon guidance ( J:91492 )

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

abnormal anterior commissure pars posterior morphology ( J:91492 )

• 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

abnormal septation of the cloaca ( J:91491 )

• 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

abnormal axon guidance ( J:91492 )

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2^tm1Henk mutation (0 available); any Efnb2 mutation (28 available)

♀	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

Allelic Composition	Efnb2^tm1Henk/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:
Efnb2^tm1Henk mutation (0 available); any Efnb2 mutation (28 available)

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

digestive/alimentary system

abnormal anogenital distance ( J:91491 )

• the perineal area is reduced

renal/urinary system

abnormal penis morphology ( J:91491 )

• 28% of males have a ventrally flattened hypospadic penis

hypospadia ( J:91491 )

• hypospadia can be seen by E16

reproductive system

abnormal anogenital distance ( J:91491 )

• the perineal area is reduced

abnormal penis morphology ( J:91491 )

• 28% of males have a ventrally flattened hypospadic penis

splayed clitoris ( J:91491 )

• some females display a splayed clitoris

male infertility ( J:91491 )

• males with an abnormal penis are unable to copulate

embryo

abnormal septation of the cloaca ( J:91491 )

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2^tm1Henk mutation (0 available); any Efnb2 mutation (28 available)

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

behavior/neurological

head bobbing ( J:116671 )

• on a >75% CD-1 background (2 or more backcross generations), 20.5% of adult heterozygotes exhibit rapid head bobbing

circling ( J:116671 )

• 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

decreased posterior semicircular canal size ( J:116671 )

• 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

decreased superior semicircular canal size ( J:116671 )

• 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

small endolymphatic duct ( J:116671 )

• on a CD-1 background, endolymph-filled membranous ducts are severely reduced

abnormal endolymph physiology ( J:116671 )

• [K⁺] is significantly reduced from a mean of 118 mM in wild-type mice to 61 mM in heterozygotes

• on a CD-1 background, reduced endolymph-filled lumens lead to a significant reduction in the flow of endolymph fluid through the semicircular canals

abnormal vestibular endolymph physiology ( J:116671 )

• 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

abnormal vestibular endolymph ionic homeostasis ( J:116671 )

• 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

cleft palate ( J:173636 )

• severe cleft palate in 7% of mice

digestive/alimentary system

cleft palate ( J:173636 )

• severe cleft palate in 7% of mice

growth/size/body

cleft palate ( J:173636 )

• severe cleft palate in 7% of mice

Allelic Composition	Efnb2^tm1Henk/Efnb2⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2^tm1Henk mutation (0 available); any Efnb2 mutation (28 available)

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

nervous system

abnormal axon morphology ( J:176056 )

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

Allelic Composition	Efnb2^tm1Henk/Efnb2^tm2.1Henk
Genetic Background	involves: 129 * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2^tm1Henk mutation (0 available); any Efnb2 mutation (28 available)
Efnb2^tm2.1Henk mutation (0 available); any Efnb2 mutation (28 available)

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

renal/urinary system

hypospadia ( J:173636 )

• seen in 71% of mice

Allelic Composition	Efnb2^tm1Henk/Efnb2^tm3.1Henk
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2^tm1Henk mutation (0 available); any Efnb2 mutation (28 available)
Efnb2^tm3.1Henk mutation (0 available); any Efnb2 mutation (28 available)

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

renal/urinary system

hypospadia ( J:173636 )

• seen in 86% of mice

nervous system

abnormal axon morphology ( J:176056 )

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

Allelic Composition	Efnb2^tm1Henk/Efnb2^tm1Henk Tbx4^tm1(cre)Tmj/Tbx4⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2^tm1Henk mutation (0 available); any Efnb2 mutation (28 available)
Tbx4^tm1(cre)Tmj mutation (0 available); any Tbx4 mutation (23 available)

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

nervous system

nervous system phenotype ( J:176643 )

N	• mice exhibit normal motor neuron specification and initial phases of motor axon extension

Allelic Composition	Efnb2^tm1Henk/Efnb2⁺ Ephb2^tm2Paw/Ephb2^tm2Paw
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:
Efnb2^tm1Henk mutation (0 available); any Efnb2 mutation (28 available)
Ephb2^tm2Paw mutation (0 available); any Ephb2 mutation (66 available)

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

renal/urinary system

hypospadia ( J:91491 )

• an increased incidence of hypospadia compared to Efnb2^tm1Henk heterozygotes is seen

Allelic Composition	Efnb2^tm1Henk/Efnb2⁺ Ephb2^tm2Paw/Ephb2^tm2Paw Ephb3^tm1Kln/Ephb3⁺
Genetic Background	either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)

Find Mice

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

renal/urinary system

hypospadia ( J:91491 )

• an increased incidence of hypospadia compared to Efnb2^tm1Henk heterozygotes is seen

Allelic Composition	Efnb2^tm1Henk/Efnb2⁺ Ephb2^tm1Paw/Ephb2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2^tm1Henk mutation (0 available); any Efnb2 mutation (28 available)
Ephb2^tm1Paw mutation (1 available); any Ephb2 mutation (66 available)

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

behavior/neurological

circling ( J:116671 )

• on a ~94% CD-1 background (4 backcross generations), 69% of adult double heterozygotes display a hyperactive circling locomotion versus 13% of single Efnb2^tm1Henk heterozygotes (>5-fold increase)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23