All Phenotypes Efnb2<tm1Henk> MGI Mouse

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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 (29 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 (29 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 (29 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 (29 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 )

• 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

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 (29 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 (29 available)
Efnb2^tm2.1Henk mutation (0 available); any Efnb2 mutation (29 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 (29 available)
Efnb2^tm3.1Henk mutation (0 available); any Efnb2 mutation (29 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 (29 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 (29 available)
Ephb2^tm2Paw mutation (0 available); any Ephb2 mutation (68 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 (29 available)
Ephb2^tm1Paw mutation (1 available); any Ephb2 mutation (68 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)

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