All Phenotypes Efnb2<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Efnb2⁺
wild type
MGI:2176537

Summary

12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Efnb2^tm1.1Henk/Efnb2⁺	either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)	MGI:3051577
ht2	Efnb2^tm1Henk/Efnb2⁺	either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)	MGI:3051576
ht3	Efnb2^tm1Henk/Efnb2⁺	involves: 129 * CD-1	MGI:3697650
ht4	Efnb2^tm1.1Henk/Efnb2⁺	involves: 129 * CD-1	MGI:3697649
ht5	Efnb2^tm3.1Henk/Efnb2⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:5306608
ht6	Efnb2^tm1Henk/Efnb2⁺	Not Specified	MGI:5306610
cx7	Efnb2^tm1Henk/Efnb2⁺ Ephb2^tm2Paw/Ephb2^tm2Paw Ephb3^tm1Kln/Ephb3⁺	either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)	MGI:3051580
cx8	Efnb2^tm1Henk/Efnb2⁺ Ephb2^tm2Paw/Ephb2^tm2Paw	either: 129 or (involves: 129 * C57BL/6) or (involves: 129 * CD-1)	MGI:3051581
cx9	Efnb2^tm1Henk/Efnb2⁺ Ephb2^tm1Paw/Ephb2⁺	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:3697651
cx10	Efnb2^tm1And/Efnb2⁺ Rbpj^tm1Kyo/Rbpj^tm1Kyo	involves: 129S2/SvPas * 129S7/SvEvBrd	MGI:3056464
cx11	Efnb1^tm1.1Sor/Y Efnb2^tm2Sor/Efnb2⁺	involves: 129S4/SvJaeSor * C57BL/6J	MGI:3829203
cx12	Efnb1^tm1.1Sor/Efnb1⁺ Efnb2^tm2Sor/Efnb2⁺	involves: 129S4/SvJaeSor * C57BL/6J	MGI:3829204

Allelic Composition	Efnb2^tm1.1Henk/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^tm1.1Henk mutation (0 available); any Efnb2 mutation (27 available)

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

reproductive system

reproductive system phenotype ( J:91491 )

N	• males do not have hypospadia unlike Efnb2^tm1Henk heterozygotes

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 (27 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 (27 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^tm1.1Henk/Efnb2⁺
Genetic Background	involves: 129 * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2^tm1.1Henk mutation (0 available); any Efnb2 mutation (27 available)

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

behavior/neurological

head bobbing ( J:116671 )

• on a ~87.5% CD-1 background (3 backcross generations), 13.5% of adult heterozygotes exhibit rapid head bobbing

circling ( J:116671 )

• on a ~87.5% CD-1 background (3 backcross generations), 13.5% of adult heterozygotes exhibit continuous, hyperactive circling

• waltzing is first apparent at ~P10, i.e. when locomotion begins

• Background Sensitivity: on a 129 or C57BL/6 background, adult heterozygotes appear normal with no vestibular dysfunction

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2^tm3.1Henk mutation (0 available); any Efnb2 mutation (27 available)

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

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⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2^tm1Henk mutation (0 available); any Efnb2 mutation (27 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⁺ Ephb2^tm2Paw/Ephb2^tm2Paw Ephb3^tm1Kln/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:
Efnb2^tm1Henk mutation (0 available); any Efnb2 mutation (27 available)
Ephb2^tm2Paw mutation (0 available); any Ephb2 mutation (68 available)
Ephb3^tm1Kln mutation (1 available); any Ephb3 mutation (52 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
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 (27 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)

Allelic Composition	Efnb2^tm1And/Efnb2⁺ Rbpj^tm1Kyo/Rbpj^tm1Kyo
Genetic Background	involves: 129S2/SvPas * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb2^tm1And mutation (3 available); any Efnb2 mutation (27 available)
Rbpj^tm1Kyo mutation (1 available); any Rbpj mutation (191 available)

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

cardiovascular system

abnormal vascular development ( J:93125 )

• arterial specification of developing blood vessels is lost

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1^tm1.1Sor mutation (0 available); any Efnb1 mutation (15 available)
Efnb2^tm2Sor mutation (1 available); any Efnb2 mutation (27 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

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 )

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

Find Mice

♀	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

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 )

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